Variant report

Variant	nsv911278
Chromosome Location	chr19:18526536-18550276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2651)
CpG islands
(count:2505)
Chromatin interactive
region (count:107)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2651 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18527122-18528092	K562	blood:	n/a	n/a
2	ARID3A	chr19:18530070-18530263	K562	blood:	n/a	n/a
3	ARID3A	chr19:18528424-18528556	K562	blood:	n/a	n/a
4	ARID3A	chr19:18531045-18531134	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:18549523-18549785	K562	blood:	n/a	n/a
6	ATF1	chr19:18527103-18527505	K562	blood:	n/a	n/a
7	ATF2	chr19:18544905-18545251	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr19:18527085-18527512	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:18527039-18527516	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:18543709-18544259	GM12878	blood:	n/a	n/a
11	BACH1	chr19:18528382-18528417	K562	blood:	n/a	n/a
12	BACH1	chr19:18549641-18549706	K562	blood:	n/a	n/a
13	BACH1	chr19:18529476-18531104	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:18544044-18544213	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr19:18528824-18529105	K562	blood:	n/a	n/a
16	BACH1	chr19:18547891-18549817	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr19:18543901-18543906	K562	blood:	n/a	n/a
18	BACH1	chr19:18529383-18530041	K562	blood:	n/a	n/a
19	BACH1	chr19:18548533-18548595	K562	blood:	n/a	n/a
20	BACH1	chr19:18527264-18529274	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL3	chr19:18543538-18544439	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
22	BCL3	chr19:18547430-18548093	K562	blood:	n/a	chr19:18548049-18548062 chr19:18548023-18548032
23	BCL3	chr19:18548354-18549192	K562	blood:	n/a	chr19:18548925-18548934 chr19:18548987-18548996 chr19:18548921-18548934 chr19:18549103-18549112
24	BCL3	chr19:18548654-18549317	GM12878	blood:	n/a	chr19:18548925-18548934 chr19:18548987-18548996 chr19:18548921-18548934 chr19:18549103-18549112 chr19:18549238-18549251
25	BCL3	chr19:18544467-18546028	K562	blood:	n/a	chr19:18544746-18544759 chr19:18544747-18544760
26	BCL3	chr19:18548335-18548754	A549	lung:	n/a	n/a
27	BCL3	chr19:18543616-18544387	K562	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
28	BCL3	chr19:18544513-18544852	GM12878	blood:	n/a	chr19:18544746-18544759 chr19:18544747-18544760
29	BCL3	chr19:18544799-18545228	K562	blood:	n/a	n/a
30	BCL3	chr19:18545624-18545919	K562	blood:	n/a	n/a
31	BCLAF1	chr19:18543880-18544417	K562	blood:	n/a	chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
32	BCLAF1	chr19:18543571-18544241	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544100-18544113
33	BCLAF1	chr19:18528000-18528798	K562	blood:	n/a	chr19:18528537-18528546 chr19:18528689-18528698
34	BCLAF1	chr19:18543587-18544362	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
35	BHLHE40	chr19:18525998-18526538	K562	blood:	n/a	n/a
36	BHLHE40	chr19:18549477-18549903	K562	blood:	n/a	chr19:18549680-18549696
37	BHLHE40	chr19:18549072-18549226	K562	blood:	n/a	n/a
38	BHLHE40	chr19:18543847-18544297	GM12878	blood:	n/a	chr19:18544163-18544179
39	BHLHE40	chr19:18547894-18548070	K562	blood:	n/a	n/a
40	BHLHE40	chr19:18548436-18548675	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:18527651-18529195	GM12878	blood:	n/a	chr19:18528334-18528350 chr19:18527725-18527741
42	BHLHE40	chr19:18528743-18529129	HepG2	liver:	n/a	n/a
43	BHLHE40	chr19:18529862-18530729	GM12878	blood:	n/a	chr19:18530260-18530276 chr19:18530431-18530447
44	BHLHE40	chr19:18548418-18548754	K562	blood:	n/a	n/a
45	BHLHE40	chr19:18527096-18530332	K562	blood:	n/a	chr19:18528334-18528350 chr19:18530260-18530276 chr19:18527725-18527741
46	BHLHE40	chr19:18547325-18547605	K562	blood:	n/a	n/a
47	BHLHE40	chr19:18530911-18531214	HepG2	liver:	n/a	chr19:18531047-18531063
48	BHLHE40	chr19:18530947-18531153	GM12878	blood:	n/a	chr19:18531047-18531063
49	BHLHE40	chr19:18543877-18544227	K562	blood:	n/a	chr19:18544163-18544179
50	BRCA1	chr19:18530731-18530970	Hela-S3	cervix:	n/a	n/a

(count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18549689-18549739	HAEpiC	amniotic membrane:	n/a
2	chr19:18542171-18542221	IMR90	lung:	fetal
3	chr19:18549274-18549324	ovcar-3	ovarian:	n/a
4	chr19:18548845-18548895	SKMC	muscle:	n/a
5	chr19:18549689-18549739	HAEpiC	amniotic membrane:	n/a
6	chr19:18542171-18542221	IMR90	lung:	fetal
7	chr19:18549274-18549324	ovcar-3	ovarian:	n/a
8	chr19:18548845-18548895	SKMC	muscle:	n/a
9	chr19:18544419-18544469	HL-60	blood:	n/a
10	chr19:18549134-18549184	MCF-7	breast:	n/a
11	chr19:18540208-18540258	Hepatocyte	liver:	n/a
12	chr19:18529846-18529896	IMR90	lung:	fetal
13	chr19:18546719-18546769	HL-60	blood:	n/a
14	chr19:18531353-18531403	HepG2	liver:	n/a
15	chr19:18543829-18543879	Jurkat	blood:	n/a
16	chr19:18547070-18547120	BJ	skin:	n/a
17	chr19:18528152-18528202	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:18549134-18549184	GM06990	blood:	n/a
19	chr19:18539841-18539891	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:18529121-18529171	HCPEpiC	choroid plexus:	n/a
21	chr19:18539756-18539806	Hepatocyte	liver:	n/a
22	chr19:18549134-18549184	GM19239	blood:	n/a
23	chr19:18531353-18531403	AG09309	skin:	n/a
24	chr19:18545062-18545112	PANC-1	pancreas:	n/a
25	chr19:18548015-18548065	AG09309	skin:	n/a
26	chr19:18549274-18549324	PrEC	prostate:	n/a
27	chr19:18530401-18530451	AG09319	gingival:	n/a
28	chr19:18549131-18549181	IMR90	lung:	fetal
29	chr19:18539841-18539891	PFSK-1	brain:	n/a
30	chr19:18530207-18530257	PFSK-1	brain:	n/a
31	chr19:18530207-18530257	A549	lung:	n/a
32	chr19:18547358-18547408	CMK	blood:	n/a
33	chr19:18544419-18544469	ovcar-3	ovarian:	n/a
34	chr19:18548015-18548065	GM06990	blood:	n/a
35	chr19:18540330-18540380	MCF-7	breast:	n/a
36	chr19:18548964-18549014	NHBE	bronchial:	n/a
37	chr19:18547358-18547408	NHDF-neo	bronchial:	n/a
38	chr19:18546047-18546097	U87	brain:	n/a
39	chr19:18546047-18546097	NH-A	brain:	n/a
40	chr19:18549136-18549186	ProgFib	skin:	n/a
41	chr19:18529846-18529896	NHBE	bronchial:	n/a
42	chr19:18545568-18545618	HCM	heart:	n/a
43	chr19:18549134-18549184	HUVEC	blood vessel:	n/a
44	chr19:18529339-18529389	NHBE	bronchial:	n/a
45	chr19:18548004-18548054	HNPCEpiC	eye:	n/a
46	chr19:18530207-18530257	NH-A	brain:	n/a
47	chr19:18540330-18540380	HCF	heart:	n/a
48	chr19:18537374-18537424	HepG2	liver:	n/a
49	chr19:18549131-18549181	BJ	skin:	n/a
50	chr19:18549134-18549184	ECC-1	luminal epithelium:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:18537918..18539910-chr19:18546510..18549015,3	MCF-7	breast:
2	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
3	chr19:18547268..18549412-chr19:18631404..18632910,2	K562	blood:
4	chr19:18450514..18452261-chr19:18530273..18532416,2	K562	blood:
5	chr19:18540459..18542781-chr19:18632920..18634658,2	K562	blood:
6	chr19:18507454..18509649-chr19:18542288..18544063,2	K562	blood:
7	chr19:18451193..18453522-chr19:18547468..18550080,2	K562	blood:
8	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
9	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
10	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
11	chr19:18263382..18266326-chr19:18527834..18529427,2	K562	blood:
12	chr19:18496287..18498156-chr19:18525962..18527694,2	MCF-7	breast:
13	chr19:18483533..18485446-chr19:18527365..18529374,2	K562	blood:
14	chr19:18534646..18537206-chr19:18547129..18549034,2	MCF-7	breast:
15	chr11:133446628..133447627-chr19:18526800..18527688,2	HCT-116	colon:
16	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
17	chr19:18527888..18529469-chr19:18682713..18684941,2	K562	blood:
18	chr19:18338900..18340811-chr19:18525374..18527248,2	K562	blood:
19	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:
20	chr19:18389169..18391132-chr19:18534059..18535898,2	K562	blood:
21	chr19:18549183..18551304-chr19:18943433..18945285,2	MCF-7	breast:
22	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
23	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
24	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
25	chr19:18549229..18551891-chr19:18947314..18949690,2	K562	blood:
26	chr19:18449803..18452751-chr19:18530696..18534160,4	MCF-7	breast:
27	chr19:18533307..18535604-chr19:18555300..18557971,2	MCF-7	breast:
28	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
29	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
30	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
31	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
32	chr12:49760185..49761113-chr19:18527723..18528583,2	Hela-S3	cervix:
33	chr19:18314746..18317215-chr19:18546753..18549806,3	K562	blood:
34	chr19:18547378..18549702-chr19:18699788..18702900,3	K562	blood:
35	chr19:18531274..18534025-chr19:18699060..18700939,2	K562	blood:
36	chr19:18548890..18552469-chr19:18555256..18558580,5	MCF-7	breast:
37	chr19:18546792..18548978-chr19:18667741..18669982,2	K562	blood:
38	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
39	chr19:18534817..18537045-chr19:18704121..18707068,2	MCF-7	breast:
40	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
41	chr19:18431922..18434766-chr19:18532298..18535226,2	MCF-7	breast:
42	chr19:18424650..18427071-chr19:18525382..18527314,2	K562	blood:
43	chr19:18385704..18387487-chr19:18538825..18541635,2	K562	blood:
44	chr12:44200151..44200658-chr19:18528720..18529353,2	Hela-S3	cervix:
45	chr19:18536175..18537815-chr19:18653605..18655763,2	MCF-7	breast:
46	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
47	chr19:18528980..18530981-chr19:18532630..18535154,2	MCF-7	breast:
48	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
49	chr19:18391389..18392894-chr19:18547544..18549932,2	MCF-7	breast:
50	chr19:18527420..18529466-chr19:49466752..49468633,2	K562	blood:

No data

Variant related genes	Relation type
SSBP4	TF binding region
ISYNA1	TF binding region
ENSG00000268199	TF binding region
SSBP4	CpG island
ISYNA1	CpG island
ENSG00000268199	CpG island
ENSG00000151239	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000221167	chromatin interactions
ENSG00000130518	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000267898	chromatin interactions
ENSG00000130520	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000105669	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000006015	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000221983	chromatin interactions
ENSG00000185842	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000241464	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000254858	chromatin interactions
ENSG00000267533	chromatin interactions
ENSG00000268650	chromatin interactions
ENSG00000141076	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000105701	chromatin interactions
ENSG00000168802	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000105649	chromatin interactions
ENSG00000268173	chromatin interactions

Extended variants
information (count: 1030 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1030 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28706490	chr19:18526536-18526537	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567741976	chr19:18526546-18526547	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs189602391	chr19:18526578-18526579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs550377219	chr19:18526595-18526596	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs528398454	chr19:18526763-18526764	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs115510422	chr19:18526782-18526783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs539248234	chr19:18526808-18526809	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs183331137	chr19:18526810-18526811	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs74180881	chr19:18526842-18526843	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs566242887	chr19:18526856-18526857	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs371997780	chr19:18526918-18526919	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs541247990	chr19:18526927-18526928	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs186098951	chr19:18526974-18526975	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs543139838	chr19:18526978-18526979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs377123477	chr19:18526998-18526999	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs190514341	chr19:18527056-18527057	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs576589463	chr19:18527094-18527095	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs8102195	chr19:18527110-18527111	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559595121	chr19:18527133-18527134	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs528416826	chr19:18527170-18527171	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs183423809	chr19:18527231-18527232	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs561157042	chr19:18527239-18527240	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs530140936	chr19:18527251-18527252	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs142017169	chr19:18527253-18527254	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs7257932	chr19:18527257-18527258	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs532702767	chr19:18527407-18527408	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs548283452	chr19:18527527-18527528	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
28	rs150685722	chr19:18527550-18527551	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
29	rs376623798	chr19:18527661-18527662	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs566353088	chr19:18527747-18527748	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
31	rs535041132	chr19:18527770-18527771	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
32	rs554526119	chr19:18527777-18527778	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs369850662	chr19:18527856-18527857	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
34	rs536658732	chr19:18527860-18527861	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs563678447	chr19:18527862-18527863	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
36	rs12984422	chr19:18527863-18527864	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
37	rs556593492	chr19:18527871-18527872	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
38	rs576577506	chr19:18527873-18527874	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
39	rs539240775	chr19:18527895-18527896	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs552929460	chr19:18527904-18527905	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs573073323	chr19:18527908-18527909	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs541732069	chr19:18527997-18527998	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs532524259	chr19:18527998-18527999	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs545339680	chr19:18528019-18528020	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs562033886	chr19:18528071-18528072	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
46	rs574842796	chr19:18528143-18528144	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs79121331	chr19:18528144-18528145	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs200816545	chr19:18528197-18528198	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
49	rs73923112	chr19:18528201-18528202	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369899555	chr19:18528211-18528212	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3170 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18521600-18527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18524800-18527200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:18524800-18527400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr19:18524800-18527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18524800-18527800	Flanking Active TSS	K562	blood
6	chr19:18524800-18528000	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:18525000-18527200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr19:18525000-18527200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:18525000-18527400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:18525000-18527400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr19:18525000-18527400	Enhancers	Stomach Mucosa	stomach
12	chr19:18525000-18527600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:18525000-18527800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:18525000-18528000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:18525000-18528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:18525000-18529600	Enhancers	Liver	Liver
17	chr19:18525000-18529600	Enhancers	Spleen	Spleen
18	chr19:18525200-18526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:18525200-18526800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr19:18525200-18526800	Flanking Active TSS	Osteobl	bone
21	chr19:18525200-18527200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr19:18525200-18527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:18525200-18527400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:18525200-18527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:18525200-18527400	Enhancers	HMEC	breast
26	chr19:18525200-18527400	Enhancers	NH-A	brain
27	chr19:18525200-18528000	Enhancers	Brain Angular Gyrus	brain
28	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:18525400-18526600	Flanking Active TSS	HSMM	muscle
30	chr19:18525400-18526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:18525400-18526800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:18525400-18526800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18525400-18526800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:18525400-18527000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:18525400-18527400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr19:18525400-18527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:18525400-18527400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:18525400-18527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:18525400-18528000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr19:18525400-18528000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:18525400-18529600	Enhancers	Lung	lung
42	chr19:18525600-18526600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:18525600-18526600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr19:18525600-18526600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr19:18525600-18526600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr19:18525600-18526600	Weak transcription	Small Intestine	intestine
47	chr19:18525600-18526800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18525600-18526800	Flanking Active TSS	Fetal Stomach	stomach
49	chr19:18525600-18526800	Flanking Active TSS	Dnd41	blood
50	chr19:18525600-18527200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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