Variant report

Variant	esv3448123
Chromosome Location	chr1:85513114-85515312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:854)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:85514467-85514731	GM12878	blood:	n/a	n/a
2	BCLAF1	chr1:85514154-85514729	GM12878	blood:	n/a	chr1:85514228-85514237 chr1:85514271-85514280
3	BCLAF1	chr1:85513852-85514427	GM12878	blood:	n/a	chr1:85514228-85514237 chr1:85513885-85513894 chr1:85514020-85514033 chr1:85514271-85514280
4	BHLHE40	chr1:85514140-85514299	K562	blood:	n/a	n/a
5	BHLHE40	chr1:85514213-85514306	GM12878	blood:	n/a	n/a
6	BRCA1	chr1:85513169-85513262	GM12878	blood:	n/a	n/a
7	CCNT2	chr1:85514040-85514229	K562	blood:	n/a	n/a
8	CEBPB	chr1:85513204-85513492	H1-hESC	embryonic stem cell:	n/a	chr1:85513355-85513368
9	CEBPB	chr1:85513288-85513450	IMR90	lung:	n/a	chr1:85513355-85513368
10	CEBPB	chr1:85513334-85513477	K562	blood:	n/a	chr1:85513355-85513368
11	CHD2	chr1:85514239-85514243	GM12878	blood:	n/a	n/a
12	CHD2	chr1:85514005-85514006	HepG2	liver:	n/a	n/a
13	CREB1	chr1:85514140-85514412	A549	lung:	n/a	n/a
14	CTCF	chr1:85514460-85514610	GM12867	blood:	n/a	chr1:85514462-85514480
15	CTCF	chr1:85513940-85514090	GM12865	blood:	n/a	n/a
16	CTCF	chr1:85514157-85514236	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:85514135-85514244	GM12891	blood:	n/a	n/a
18	CTCF	chr1:85514513-85514572	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:85514127-85514267	GM12892	blood:	n/a	n/a
20	CTCF	chr1:85514160-85514310	GM12869	blood:	n/a	n/a
21	CTCF	chr1:85514160-85514310	GM12875	blood:	n/a	n/a
22	CTCF	chr1:85514455-85514610	GM19240	blood:	n/a	chr1:85514462-85514480
23	CTCF	chr1:85514240-85514390	GM12866	blood:	n/a	n/a
24	CTCF	chr1:85514360-85514510	HRE	kidney:	n/a	chr1:85514462-85514480
25	CTCF	chr1:85514500-85514650	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr1:85514198-85514204	GM19239	blood:	n/a	n/a
27	CTCF	chr1:85514213-85514215	GM19239	blood:	n/a	n/a
28	CTCF	chr1:85514410-85514616	K562	blood:	n/a	chr1:85514462-85514480
29	CTCF	chr1:85514443-85514589	GM12892	blood:	n/a	chr1:85514462-85514480
30	CTCF	chr1:85514110-85514222	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:85514420-85514570	GM12875	blood:	n/a	chr1:85514462-85514480
32	CTCF	chr1:85514520-85514670	HMEC	breast:	n/a	n/a
33	CTCF	chr1:85514360-85514510	GM12873	blood:	n/a	chr1:85514462-85514480
34	CTCF	chr1:85514220-85514370	GM12868	blood:	n/a	n/a
35	CTCF	chr1:85514380-85514630	GM12871	blood:	n/a	chr1:85514462-85514480
36	CTCF	chr1:85514478-85514573	GM19239	blood:	n/a	n/a
37	CTCF	chr1:85514400-85514550	GM06990	blood:	n/a	chr1:85514462-85514480
38	CTCF	chr1:85514520-85514670	GM12869	blood:	n/a	n/a
39	CTCF	chr1:85514441-85514618	GM19238	blood:	n/a	chr1:85514462-85514480
40	CTCF	chr1:85514040-85514190	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr1:85513860-85514130	GM12867	blood:	n/a	n/a
42	CTCF	chr1:85514480-85514630	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:85514480-85514579	GM12878	blood:	n/a	n/a
44	CTCF	chr1:85514480-85514630	GM12864	blood:	n/a	n/a
45	CTCF	chr1:85514407-85514603	GM12891	blood:	n/a	chr1:85514462-85514480
46	CTCF	chr1:85514526-85514534	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:85514580-85514730	GM12872	blood:	n/a	n/a
48	CTCF	chr1:85514080-85514230	GM12871	blood:	n/a	n/a
49	CTCF	chr1:85514280-85514430	GM12871	blood:	n/a	n/a
50	CTCF	chr1:85514475-85514550	GM20000	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85514326-85514376	SAEC	small airway:	n/a
2	chr1:85514610-85514660	HCT-116	colon:	n/a
3	chr1:85513315-85513365	Hela-S3	cervix:	n/a
4	chr1:85513124-85513174	AG04449	skin:	fetal
5	chr1:85514226-85514276	Caco-2	colon:	n/a
6	chr1:85514708-85514758	HepG2	liver:	n/a
7	chr1:85514684-85514734	H1-hESC	embryonic stem cell:	embryo
8	chr1:85513315-85513365	BJ	skin:	n/a
9	chr1:85514226-85514276	PANC-1	pancreas:	n/a
10	chr1:85513191-85513241	GM12892	blood:	n/a
11	chr1:85514708-85514758	CMK	blood:	n/a
12	chr1:85514610-85514660	PANC-1	pancreas:	n/a
13	chr1:85514708-85514758	HCPEpiC	choroid plexus:	n/a
14	chr1:85514340-85514390	ECC-1	luminal epithelium:	n/a
15	chr1:85514340-85514390	HMEC	breast:	n/a
16	chr1:85514554-85514604	U87	brain:	n/a
17	chr1:85514684-85514734	CMK	blood:	n/a
18	chr1:85514326-85514376	AG04450	lung:	fetal
19	chr1:85513124-85513174	GM19239	blood:	n/a
20	chr1:85513892-85513942	ovcar-3	ovarian:	n/a
21	chr1:85514610-85514660	HL-60	blood:	n/a
22	chr1:85514326-85514376	PFSK-1	brain:	n/a
23	chr1:85514226-85514276	BJ	skin:	n/a
24	chr1:85514226-85514276	AoSMC	blood vessel:	n/a
25	chr1:85514134-85514184	HCF	heart:	n/a
26	chr1:85514340-85514390	AG10803	skin:	n/a
27	chr1:85513889-85513939	GM12891	blood:	n/a
28	chr1:85513889-85513939	NT2-D1	testis:	n/a
29	chr1:85513889-85513939	A549	lung:	n/a
30	chr1:85514684-85514734	ovcar-3	ovarian:	n/a
31	chr1:85514134-85514184	HRE	kidney:	n/a
32	chr1:85514340-85514390	GM12892	blood:	n/a
33	chr1:85514554-85514604	SKMC	muscle:	n/a
34	chr1:85513789-85513839	NH-A	brain:	n/a
35	chr1:85514554-85514604	GM12891	blood:	n/a
36	chr1:85514554-85514604	BJ	skin:	n/a
37	chr1:85513191-85513241	U87	brain:	n/a
38	chr1:85513191-85513241	MCF-7	breast:	n/a
39	chr1:85513789-85513839	NHDF-neo	bronchial:	n/a
40	chr1:85514340-85514390	PFSK-1	brain:	n/a
41	chr1:85513889-85513939	HRCEpiC	kidney:	n/a
42	chr1:85514340-85514390	ovcar-3	ovarian:	n/a
43	chr1:85514708-85514758	SKMC	muscle:	n/a
44	chr1:85514554-85514604	H1-hESC	embryonic stem cell:	embryo
45	chr1:85513124-85513174	HNPCEpiC	eye:	n/a
46	chr1:85514134-85514184	Caco-2	colon:	n/a
47	chr1:85513124-85513174	AG04450	lung:	fetal
48	chr1:85514226-85514276	Hepatocyte	liver:	n/a
49	chr1:85514684-85514734	HEEpiC	esophagus:	n/a
50	chr1:85513889-85513939	HRE	kidney:	n/a

No data

Variant related genes	Relation type
MCOLN3	TF binding region
MCOLN3	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532877332	chr1:85513119-85513120	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543133837	chr1:85513235-85513236	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190721451	chr1:85513268-85513269	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12740810	chr1:85513298-85513299	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544987994	chr1:85513303-85513304	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548926213	chr1:85513379-85513380	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565842936	chr1:85513380-85513381	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2304641	chr1:85513398-85513399	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs200884233	chr1:85513429-85513430	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113101759	chr1:85513431-85513432	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs377411185	chr1:85513439-85513440	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114902526	chr1:85513453-85513454	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183226735	chr1:85513477-85513478	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188540144	chr1:85513482-85513483	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370466752	chr1:85513517-85513518	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114730193	chr1:85513523-85513524	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570074419	chr1:85513535-85513536	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535489843	chr1:85513561-85513562	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373607248	chr1:85513574-85513575	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572426546	chr1:85513658-85513659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs541291537	chr1:85513686-85513687	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs542917566	chr1:85513697-85513698	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs368129322	chr1:85513698-85513699	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs557962318	chr1:85513726-85513727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs577792656	chr1:85513741-85513742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs893618	chr1:85513770-85513771	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563225997	chr1:85513781-85513782	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs369735958	chr1:85513797-85513798	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs528938576	chr1:85513830-85513831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542282522	chr1:85513837-85513838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191779427	chr1:85513850-85513851	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528432672	chr1:85513932-85513933	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551681035	chr1:85513971-85513972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571514453	chr1:85514043-85514044	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369740664	chr1:85514086-85514087	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550710536	chr1:85514159-85514160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs570054779	chr1:85514190-85514191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535915117	chr1:85514195-85514196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555492565	chr1:85514203-85514204	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs540563451	chr1:85514204-85514205	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6700723	chr1:85514234-85514235	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34407588	chr1:85514282-85514283	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs577854635	chr1:85514328-85514329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs537253931	chr1:85514329-85514330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs148098799	chr1:85514342-85514343	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs370123042	chr1:85514396-85514397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542867824	chr1:85514429-85514430	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113793689	chr1:85514437-85514438	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562814726	chr1:85514457-85514458	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542693353	chr1:85514462-85514463	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85508400-85513200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85512400-85515800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:85512600-85513400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr1:85512800-85513200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr1:85512800-85513200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr1:85512800-85513200	Bivalent Enhancer	Primary T cells from cord blood	blood
7	chr1:85512800-85513400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:85512800-85513600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr1:85512800-85513600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr1:85512800-85513600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr1:85512800-85513600	Bivalent Enhancer	Fetal Lung	lung
12	chr1:85512800-85513600	Active TSS	Right Atrium	heart
13	chr1:85512800-85513600	Flanking Active TSS	HMEC	breast
14	chr1:85512800-85514600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr1:85512800-85514800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:85513000-85513200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:85513000-85513200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:85513000-85513200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:85513000-85513200	Bivalent Enhancer	Primary B cells from cord blood	blood
22	chr1:85513000-85513200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr1:85513000-85513200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:85513000-85513200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:85513000-85513200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:85513000-85513200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:85513000-85513200	Bivalent Enhancer	Brain Hippocampus Middle	brain
28	chr1:85513000-85513200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:85513000-85513200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:85513000-85513200	Bivalent Enhancer	Placenta	Placenta
31	chr1:85513000-85513200	Flanking Active TSS	Gastric	stomach
32	chr1:85513000-85513200	Flanking Active TSS	Pancreas	Pancrea
33	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
34	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr1:85513000-85513200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr1:85513000-85513200	Enhancers	Spleen	Spleen
37	chr1:85513000-85513200	Enhancers	GM12878-XiMat	blood
38	chr1:85513000-85513200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr1:85513000-85513200	Bivalent/Poised TSS	NHEK	skin
40	chr1:85513000-85513400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr1:85513000-85513400	Bivalent Enhancer	Brain Anterior Caudate	brain
42	chr1:85513000-85513400	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr1:85513000-85513400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr1:85513000-85513400	Bivalent Enhancer	Fetal Heart	heart
45	chr1:85513000-85513400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr1:85513000-85513400	Bivalent Enhancer	Left Ventricle	heart
47	chr1:85513000-85513400	Bivalent Enhancer	Lung	lung
48	chr1:85513000-85513400	Enhancers	Ovary	ovary
49	chr1:85513000-85513400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr1:85513000-85513400	Bivalent/Poised TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links