Variant report

Variant	esv3391441
Chromosome Location	chr19:18529402-18531925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:573)
CpG islands
(count:305)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18530070-18530263	K562	blood:	n/a	n/a
2	ARID3A	chr19:18531045-18531134	HepG2	liver:	n/a	n/a
3	BACH1	chr19:18529476-18531104	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:18529383-18530041	K562	blood:	n/a	n/a
5	BHLHE40	chr19:18527096-18530332	K562	blood:	n/a	chr19:18528334-18528350 chr19:18530260-18530276 chr19:18527725-18527741
6	BHLHE40	chr19:18529862-18530729	GM12878	blood:	n/a	chr19:18530260-18530276 chr19:18530431-18530447
7	BHLHE40	chr19:18530947-18531153	GM12878	blood:	n/a	chr19:18531047-18531063
8	BHLHE40	chr19:18530911-18531214	HepG2	liver:	n/a	chr19:18531047-18531063
9	BRCA1	chr19:18530061-18530231	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr19:18530731-18530970	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr19:18530462-18530501	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr19:18530672-18530988	GM12878	blood:	n/a	n/a
13	BRCA1	chr19:18530696-18531051	HepG2	liver:	n/a	n/a
14	BRCA1	chr19:18530462-18531037	H1-hESC	embryonic stem cell:	n/a	n/a
15	CBX3	chr19:18529191-18530413	K562	blood:	n/a	n/a
16	CCNT2	chr19:18529650-18530946	K562	blood:	n/a	chr19:18530526-18530535 chr19:18530532-18530541
17	CEBPB	chr19:18529478-18529776	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr19:18529465-18529796	K562	blood:	n/a	n/a
19	CEBPB	chr19:18530058-18530195	HepG2	liver:	n/a	n/a
20	CEBPD	chr19:18530887-18531164	HepG2	liver:	n/a	n/a
21	CEBPD	chr19:18530921-18531156	HepG2	liver:	n/a	n/a
22	CEBPD	chr19:18529855-18530362	HepG2	liver:	n/a	n/a
23	CHD1	chr19:18530067-18530236	GM12878	blood:	n/a	n/a
24	CHD2	chr19:18529803-18531018	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr19:18530594-18531048	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr19:18529474-18531203	K562	blood:	n/a	n/a
27	CHD2	chr19:18530127-18531226	HepG2	liver:	n/a	n/a
28	CHD2	chr19:18529816-18531079	GM12878	blood:	n/a	n/a
29	CHD2	chr19:18530348-18530375	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr19:18529374-18529621	A549	lung:	n/a	n/a
31	CREB1	chr19:18529848-18530509	A549	lung:	n/a	n/a
32	CTCF	chr19:18530216-18530405	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:18530180-18530330	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr19:18530220-18530370	GM12874	blood:	n/a	n/a
35	CTCF	chr19:18530280-18530430	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr19:18530133-18530375	A549	lung:	n/a	n/a
37	CTCF	chr19:18530240-18530390	GM12869	blood:	n/a	n/a
38	CTCF	chr19:18530203-18530204	GM10248	blood:	n/a	n/a
39	CTCF	chr19:18530206-18530436	K562	blood:	n/a	n/a
40	CTCF	chr19:18530110-18530517	K562	blood:	n/a	n/a
41	CTCF	chr19:18530940-18531090	GM12871	blood:	n/a	n/a
42	CTCF	chr19:18530143-18530351	A549	lung:	n/a	n/a
43	CTCF	chr19:18530155-18530499	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr19:18529724-18529799	GM19239	blood:	n/a	n/a
45	CTCF	chr19:18530222-18530430	GM10266	blood:	n/a	n/a
46	CTCF	chr19:18530260-18530410	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr19:18530200-18530350	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr19:18530260-18530410	GM12867	blood:	n/a	n/a
49	CTCF	chr19:18530175-18530496	LNCaP	prostate:	n/a	n/a
50	CTCF	chr19:18530180-18530330	AG04449	skin:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18530207-18530257	AoSMC	blood vessel:	n/a
2	chr19:18529846-18529896	HCT-116	colon:	n/a
3	chr19:18531353-18531403	IMR90	lung:	fetal
4	chr19:18530207-18530257	GM06990	blood:	n/a
5	chr19:18530401-18530451	HEK293	kidney:	embryo
6	chr19:18530207-18530257	SKMC	muscle:	n/a
7	chr19:18531111-18531161	HepG2	liver:	n/a
8	chr19:18531111-18531161	PFSK-1	brain:	n/a
9	chr19:18530401-18530451	LNCaP	prostate:	n/a
10	chr19:18530401-18530451	SK-N-SH	brain:	n/a
11	chr19:18530401-18530451	NH-A	brain:	n/a
12	chr19:18530401-18530451	HRE	kidney:	n/a
13	chr19:18531111-18531161	ProgFib	skin:	n/a
14	chr19:18529846-18529896	CMK	blood:	n/a
15	chr19:18530401-18530451	ovcar-3	ovarian:	n/a
16	chr19:18529846-18529896	AoSMC	blood vessel:	n/a
17	chr19:18529846-18529896	HIPEpiC	eye:	n/a
18	chr19:18531353-18531403	HEEpiC	esophagus:	n/a
19	chr19:18530401-18530451	SK-N-SH_RA	brain:	n/a
20	chr19:18529846-18529896	NT2-D1	testis:	n/a
21	chr19:18529846-18529896	ProgFib	skin:	n/a
22	chr19:18530207-18530257	AG10803	skin:	n/a
23	chr19:18531353-18531403	Hepatocyte	liver:	n/a
24	chr19:18531353-18531403	AG09309	skin:	n/a
25	chr19:18529846-18529896	HAEpiC	amniotic membrane:	n/a
26	chr19:18530401-18530451	AG09319	gingival:	n/a
27	chr19:18529846-18529896	BJ	skin:	n/a
28	chr19:18529846-18529896	NHBE	bronchial:	n/a
29	chr19:18530401-18530451	GM19239	blood:	n/a
30	chr19:18531111-18531161	ovcar-3	ovarian:	n/a
31	chr19:18531111-18531161	NH-A	brain:	n/a
32	chr19:18529846-18529896	NHDF-neo	bronchial:	n/a
33	chr19:18531111-18531161	GM12891	blood:	n/a
34	chr19:18531111-18531161	NT2-D1	testis:	n/a
35	chr19:18530401-18530451	Caco-2	colon:	n/a
36	chr19:18529846-18529896	IMR90	lung:	fetal
37	chr19:18530401-18530451	BJ	skin:	n/a
38	chr19:18531353-18531403	A549	lung:	n/a
39	chr19:18530207-18530257	NB4	blood:	n/a
40	chr19:18530207-18530257	ECC-1	luminal epithelium:	n/a
41	chr19:18530207-18530257	NHBE	bronchial:	n/a
42	chr19:18529846-18529896	U87	brain:	n/a
43	chr19:18531353-18531403	CMK	blood:	n/a
44	chr19:18530401-18530451	RPTEC	kidney:	n/a
45	chr19:18531111-18531161	H1-hESC	embryonic stem cell:	embryo
46	chr19:18529846-18529896	AG04449	skin:	fetal
47	chr19:18529846-18529896	SK-N-MC	brain:	n/a
48	chr19:18531353-18531403	MCF-7	breast:	n/a
49	chr19:18529846-18529896	BE2_C	brain:	n/a
50	chr19:18530207-18530257	HepG2	liver:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
2	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
3	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
4	chr19:18531228..18534737-chr19:18549514..18551818,3	MCF-7	breast:
5	chr19:18220149..18221787-chr19:18528170..18529964,2	K562	blood:
6	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
7	chr19:18527544..18530023-chr19:18699407..18700970,2	K562	blood:
8	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
9	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
10	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
11	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
12	chr19:18263382..18266326-chr19:18527834..18529427,2	K562	blood:
13	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
14	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
15	chr19:18527420..18529466-chr19:49466752..49468633,2	K562	blood:
16	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
17	chr19:18527987..18529989-chr19:18630753..18632961,2	K562	blood:
18	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
19	chr19:18313264..18315629-chr19:18528906..18531425,2	MCF-7	breast:
20	chr19:18527888..18529469-chr19:18682713..18684941,2	K562	blood:
21	chr19:18396145..18399548-chr19:18528063..18530226,4	K562	blood:
22	chr19:18449803..18452751-chr19:18530696..18534160,4	MCF-7	breast:
23	chr19:18531274..18534025-chr19:18699060..18700939,2	K562	blood:
24	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
25	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
26	chr19:18530114..18532262-chr19:18631255..18634040,2	MCF-7	breast:
27	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
28	chr19:18450514..18452261-chr19:18530273..18532416,2	K562	blood:
29	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
30	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
31	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
32	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

No data

Variant related genes	Relation type
SSBP4	TF binding region
SSBP4	CpG island
ENSG00000268650	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000267898	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000221167	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000105649	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000241464	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000006015	chromatin interactions
ENSG00000221983	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000130518	chromatin interactions
ENSG00000105656	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184915240	chr19:18529421-18529422	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
2	rs189446042	chr19:18529555-18529556	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs139597256	chr19:18529557-18529558	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs558105212	chr19:18529653-18529654	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs577128884	chr19:18529716-18529717	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs546754959	chr19:18529726-18529727	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs569331958	chr19:18529727-18529728	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs192309998	chr19:18529747-18529748	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs542042665	chr19:18529776-18529777	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs376537660	chr19:18529781-18529782	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs561973751	chr19:18529813-18529814	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs531033289	chr19:18529815-18529816	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs185100431	chr19:18529830-18529831	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs564452095	chr19:18529858-18529859	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs538212095	chr19:18530042-18530043	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs546618712	chr19:18530064-18530065	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs370995719	chr19:18530067-18530068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs111522724	chr19:18530090-18530091	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs143412704	chr19:18530113-18530114	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs529016026	chr19:18530133-18530134	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs28375303	chr19:18530161-18530162	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148868540	chr19:18530172-18530173	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs538053479	chr19:18530217-18530218	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs558043524	chr19:18530256-18530257	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs571565582	chr19:18530284-18530285	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs539441578	chr19:18530298-18530299	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs11556485	chr19:18530407-18530408	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs28485917	chr19:18530494-18530495	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573235736	chr19:18530615-18530616	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs541895805	chr19:18530621-18530622	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs566217267	chr19:18530662-18530663	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs555458958	chr19:18530685-18530686	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs368825098	chr19:18530692-18530693	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs575396508	chr19:18530697-18530698	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs544407215	chr19:18530736-18530737	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs112955510	chr19:18530745-18530746	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs377571205	chr19:18530765-18530766	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs535265327	chr19:18530792-18530793	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs564433934	chr19:18530887-18530888	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs533718489	chr19:18530911-18530912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs539830005	chr19:18530934-18530935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs113898508	chr19:18530946-18530947	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs189953471	chr19:18530980-18530981	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs111652589	chr19:18531008-18531009	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs111767087	chr19:18531048-18531049	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs528902749	chr19:18531076-18531077	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs549064160	chr19:18531077-18531078	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs568983420	chr19:18531138-18531139	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs374251083	chr19:18531143-18531144	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs181349341	chr19:18531151-18531152	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18525000-18529600	Enhancers	Liver	Liver
2	chr19:18525000-18529600	Enhancers	Spleen	Spleen
3	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:18525400-18529600	Enhancers	Lung	lung
5	chr19:18527200-18530000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:18527200-18530200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:18527400-18529800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr19:18527400-18530000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:18527400-18530000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:18527400-18530000	Flanking Active TSS	Right Ventricle	heart
13	chr19:18527400-18530200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr19:18527600-18529600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:18527600-18530000	Active TSS	Fetal Kidney	kidney
16	chr19:18527600-18530000	Enhancers	Small Intestine	intestine
17	chr19:18528000-18530200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr19:18528000-18532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:18528200-18529600	Enhancers	Fetal Brain Male	brain
20	chr19:18528200-18529600	Enhancers	HMEC	breast
21	chr19:18528400-18529600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:18528400-18529600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:18528400-18529600	Bivalent Enhancer	Fetal Thymus	thymus
24	chr19:18528400-18529600	Enhancers	Left Ventricle	heart
25	chr19:18528400-18529600	Weak transcription	HSMMtube	muscle
26	chr19:18528400-18529800	Bivalent Enhancer	Fetal Heart	heart
27	chr19:18528400-18529800	Enhancers	HUVEC	blood vessel
28	chr19:18528400-18529800	Enhancers	NHDF-Ad	bronchial
29	chr19:18528400-18530000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:18528400-18530400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr19:18528600-18529800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:18528600-18530000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:18528600-18530000	Flanking Active TSS	A549	lung
34	chr19:18528800-18529600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:18528800-18529600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:18528800-18529600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr19:18528800-18529600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr19:18528800-18529600	Enhancers	Psoas Muscle	Psoas
39	chr19:18528800-18529800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr19:18528800-18529800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:18528800-18529800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:18528800-18529800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr19:18528800-18530000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr19:18528800-18530000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr19:18528800-18530000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr19:18528800-18530000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr19:18528800-18530000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr19:18528800-18530000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr19:18528800-18530000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr19:18528800-18530000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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