Variant report

Variant	esv3368851
Chromosome Location	chr1:247170017-247195360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:671)
Chromatin interactive
region (count:14)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247171269-247171768	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:247171325-247171547	K562	blood:	n/a	n/a
3	ARID3A	chr1:247170278-247170486	HepG2	liver:	n/a	n/a
4	BACH1	chr1:247170859-247171353	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr1:247187468-247187713	GM12878	blood:	n/a	chr1:247187582-247187593
6	BHLHE40	chr1:247171074-247171542	K562	blood:	n/a	chr1:247171089-247171105
7	BRCA1	chr1:247171081-247171454	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr1:247170822-247170832	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr1:247171142-247171779	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr1:247171253-247171508	HepG2	liver:	n/a	n/a
11	CBX3	chr1:247171315-247171669	K562	blood:	n/a	n/a
12	CBX3	chr1:247192801-247193135	K562	blood:	n/a	n/a
13	CBX3	chr1:247192752-247193359	K562	blood:	n/a	n/a
14	CBX3	chr1:247187981-247188308	K562	blood:	n/a	n/a
15	CBX3	chr1:247170896-247171725	K562	blood:	n/a	n/a
16	CCNT2	chr1:247170890-247171543	K562	blood:	n/a	chr1:247171456-247171465
17	CEBPB	chr1:247171541-247171933	MCF-7	breast:	n/a	chr1:247171728-247171741 chr1:247171785-247171796
18	CEBPB	chr1:247185329-247185552	K562	blood:	n/a	n/a
19	CEBPB	chr1:247185228-247185581	HepG2	liver:	n/a	chr1:247185236-247185249
20	CEBPB	chr1:247185272-247185550	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:247171694-247171940	H1-hESC	embryonic stem cell:	n/a	chr1:247171728-247171741 chr1:247171785-247171796
22	CEBPB	chr1:247171149-247171984	HepG2	liver:	n/a	chr1:247171728-247171741 chr1:247171785-247171796
23	CEBPB	chr1:247171158-247171911	K562	blood:	n/a	chr1:247171728-247171741 chr1:247171785-247171796
24	CEBPB	chr1:247170187-247170425	HepG2	liver:	n/a	chr1:247170291-247170302
25	CEBPB	chr1:247170125-247170463	Hela-S3	cervix:	n/a	chr1:247170291-247170302
26	CEBPB	chr1:247171091-247171927	Hela-S3	cervix:	n/a	chr1:247171728-247171741 chr1:247171785-247171796
27	CEBPD	chr1:247171088-247171454	HepG2	liver:	n/a	n/a
28	CHD1	chr1:247171090-247171423	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:247171140-247171650	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr1:247171072-247171576	HepG2	liver:	n/a	n/a
31	CHD2	chr1:247170917-247171660	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr1:247171355-247171537	GM12878	blood:	n/a	n/a
33	CHD2	chr1:247171040-247171627	K562	blood:	n/a	n/a
34	CTCF	chr1:247184680-247184830	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr1:247171161-247171352	K562	blood:	n/a	n/a
36	CTCF	chr1:247171240-247171390	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr1:247170972-247170976	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:247175160-247175310	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr1:247171280-247171430	HCFaa	heart:	n/a	n/a
40	CTCF	chr1:247171300-247171450	HFF	foreskin:	n/a	n/a
41	CTCF	chr1:247171220-247171370	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr1:247189478-247189574	LNCaP	prostate:	n/a	n/a
43	CTCF	chr1:247170820-247170970	HRE	kidney:	n/a	n/a
44	CTCF	chr1:247171040-247171190	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr1:247184540-247184608	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr1:247171060-247171210	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr1:247180120-247180270	HAc	cerebellar:	n/a	n/a
48	CTCF	chr1:247171120-247171618	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:247171280-247171430	GM12871	blood:	n/a	n/a
50	CTCF	chr1:247170980-247171130	AG04450	lung:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247171322-247171372	AG10803	skin:	n/a
2	chr1:247171433-247171483	A549	lung:	n/a
3	chr1:247171490-247171540	HUVEC	blood vessel:	n/a
4	chr1:247171728-247171778	GM12891	blood:	n/a
5	chr1:247171433-247171483	AG09319	gingival:	n/a
6	chr1:247171572-247171622	HEK293	kidney:	embryo
7	chr1:247171403-247171453	ECC-1	luminal epithelium:	n/a
8	chr1:247171234-247171284	A549	lung:	n/a
9	chr1:247171252-247171302	HCM	heart:	n/a
10	chr1:247171403-247171453	BJ	skin:	n/a
11	chr1:247171234-247171284	Jurkat	blood:	n/a
12	chr1:247171430-247171480	PANC-1	pancreas:	n/a
13	chr1:247171252-247171302	HIPEpiC	eye:	n/a
14	chr1:247171728-247171778	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:247171728-247171778	HepG2	liver:	n/a
16	chr1:247171572-247171622	NT2-D1	testis:	n/a
17	chr1:247171322-247171372	HRCEpiC	kidney:	n/a
18	chr1:247171322-247171372	ECC-1	luminal epithelium:	n/a
19	chr1:247171728-247171778	NHDF-neo	bronchial:	n/a
20	chr1:247171403-247171453	AoSMC	blood vessel:	n/a
21	chr1:247171252-247171302	AG10803	skin:	n/a
22	chr1:247171252-247171302	PFSK-1	brain:	n/a
23	chr1:247171252-247171302	HEEpiC	esophagus:	n/a
24	chr1:247171433-247171483	IMR90	lung:	fetal
25	chr1:247171252-247171302	NT2-D1	testis:	n/a
26	chr1:247171728-247171778	HMEC	breast:	n/a
27	chr1:247171728-247171778	SK-N-SH_RA	brain:	n/a
28	chr1:247171234-247171284	NT2-D1	testis:	n/a
29	chr1:247171838-247171888	Jurkat	blood:	n/a
30	chr1:247171403-247171453	MCF10A-Er-Src	breast:	n/a
31	chr1:247171838-247171888	GM12878	blood:	n/a
32	chr1:247171490-247171540	Hela-S3	cervix:	n/a
33	chr1:247171252-247171302	SKMC	muscle:	n/a
34	chr1:247171728-247171778	SKMC	muscle:	n/a
35	chr1:247171403-247171453	CMK	blood:	n/a
36	chr1:247171322-247171372	HNPCEpiC	eye:	n/a
37	chr1:247171322-247171372	SK-N-MC	brain:	n/a
38	chr1:247173858-247173908	MCF10A-Er-Src	breast:	n/a
39	chr1:247171430-247171480	GM12892	blood:	n/a
40	chr1:247171433-247171483	SK-N-MC	brain:	n/a
41	chr1:247171433-247171483	LNCaP	prostate:	n/a
42	chr1:247171838-247171888	SK-N-SH_RA	brain:	n/a
43	chr1:247171234-247171284	AG04449	skin:	fetal
44	chr1:247171838-247171888	HEK293	kidney:	embryo
45	chr1:247171252-247171302	SK-N-SH_RA	brain:	n/a
46	chr1:247171838-247171888	HCT-116	colon:	n/a
47	chr1:247171403-247171453	HEK293	kidney:	embryo
48	chr1:247171234-247171284	HRE	kidney:	n/a
49	chr1:247171430-247171480	AG09319	gingival:	n/a
50	chr1:247171572-247171622	AG09319	gingival:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247170972..247173397-chr1:247183946..247186810,2	MCF-7	breast:
2	chr1:247169903..247171413-chr1:247191632..247193723,2	MCF-7	breast:
3	chr1:247169768..247172852-chr1:247266315..247269719,3	K562	blood:
4	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
5	chr1:247169673..247172319-chr1:247241987..247243991,2	K562	blood:
6	chr1:247162509..247164222-chr1:247168923..247171107,2	MCF-7	breast:
7	chr1:247168570..247171314-chr1:247173789..247176163,2	K562	blood:
8	chr1:247170765..247171326-chr15:59664652..59665258,2	Hela-S3	cervix:
9	chr1:247166783..247168317-chr1:247171567..247174011,2	K562	blood:
10	chr1:247170921..247172935-chr1:247241527..247243070,2	MCF-7	breast:
11	chr1:247170899..247171471-chr5:36606529..36607214,2	Hela-S3	cervix:
12	chr1:247164050..247166369-chr1:247167693..247171213,3	K562	blood:
13	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:
14	chr1:247170817..247171398-chr3:194980386..194981232,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-4	chr1:247180050-247180593	NONHSAT010747
2	lnc-SCCPDH-4	chr1:247178370-247179081	NONHSAT010747
3	lnc-AHCTF1-3	chr1:247171208-247171328	NONHSAT010746
4	lnc-AHCTF1-3	chr1:247171208-247171395	NR_037892

No data

Variant related genes	Relation type
ENSG00000236775	TF binding region
ZNF695	TF binding region
ENSG00000236775	CpG island
ZNF695	CpG island
ENSG00000157470	chromatin interactions
ENSG00000157483	chromatin interactions
ENSG00000079215	chromatin interactions
ENSG00000173950	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000197472	chromatin interactions
ENSG00000135747	chromatin interactions

Extended variants
information (count: 729 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538633752	chr1:247170047-247170048	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs558464218	chr1:247170146-247170147	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs180965773	chr1:247170157-247170158	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs537654386	chr1:247170188-247170189	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554711830	chr1:247170211-247170212	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs374500878	chr1:247170264-247170265	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2642955	chr1:247170270-247170271	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149246309	chr1:247170288-247170289	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs553567796	chr1:247170336-247170337	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs576952639	chr1:247170373-247170374	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs545809834	chr1:247170380-247170381	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565579043	chr1:247170437-247170438	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531188827	chr1:247170462-247170463	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs564145767	chr1:247170478-247170479	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543092428	chr1:247170505-247170506	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200932362	chr1:247170511-247170512	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs555438529	chr1:247170523-247170524	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371781451	chr1:247170524-247170525	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs533090016	chr1:247170530-247170531	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs544834442	chr1:247170531-247170532	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs144422045	chr1:247170545-247170546	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs544149132	chr1:247170600-247170601	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs2818874	chr1:247170629-247170630	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111743248	chr1:247170645-247170646	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532419630	chr1:247170660-247170661	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs552108325	chr1:247170668-247170669	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs186144424	chr1:247170692-247170693	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs537715980	chr1:247170701-247170702	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs554543331	chr1:247170702-247170703	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs568277106	chr1:247170732-247170733	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs533736941	chr1:247170753-247170754	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs111918227	chr1:247170791-247170792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs374114797	chr1:247170797-247170798	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs75131514	chr1:247170817-247170818	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs76213550	chr1:247170818-247170819	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs370676967	chr1:247170874-247170875	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs576964605	chr1:247170907-247170908	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs536288925	chr1:247170950-247170951	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs114126489	chr1:247170973-247170974	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs556161508	chr1:247170978-247170979	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs375030156	chr1:247170995-247170996	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs576029604	chr1:247171033-247171034	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs544918091	chr1:247171049-247171050	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs561407627	chr1:247171053-247171054	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs530359835	chr1:247171080-247171081	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs35623724	chr1:247171081-247171082	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs573783929	chr1:247171147-247171148	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs540467845	chr1:247171156-247171157	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs375127446	chr1:247171170-247171171	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs202095364	chr1:247171171-247171172	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247151200-247170800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:247158000-247170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:247163400-247170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:247163600-247170400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:247166400-247170400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:247168400-247170200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:247169000-247170200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:247169000-247170400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:247169000-247170400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:247169200-247170200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:247169400-247170400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:247169800-247170400	Weak transcription	Thymus	Thymus
13	chr1:247169800-247170600	Flanking Active TSS	Dnd41	blood
14	chr1:247169800-247171800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:247169800-247171800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:247169800-247171800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:247169800-247172000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:247169800-247172000	Active TSS	Hela-S3	cervix
19	chr1:247170000-247170200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:247170000-247170200	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:247170000-247170200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr1:247170000-247170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:247170000-247170200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:247170000-247170200	Enhancers	Fetal Brain Female	brain
25	chr1:247170000-247170200	ZNF genes & repeats	Fetal Thymus	thymus
26	chr1:247170000-247170200	Weak transcription	HUVEC	blood vessel
27	chr1:247170000-247170200	Active TSS	NHEK	skin
28	chr1:247170000-247170200	Enhancers	Osteobl	bone
29	chr1:247170000-247170400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:247170000-247170400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:247170000-247170400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:247170000-247170400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:247170000-247170400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:247170000-247170400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:247170000-247170400	Flanking Active TSS	HepG2	liver
36	chr1:247170000-247170400	Flanking Active TSS	K562	blood
37	chr1:247170000-247171000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr1:247170000-247171400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:247170000-247171400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:247170000-247171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:247170000-247171400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:247170000-247171400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:247170000-247171400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:247170000-247171400	ZNF genes & repeats	Liver	Liver
45	chr1:247170000-247171600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:247170000-247171600	Active TSS	NH-A	brain
47	chr1:247170000-247171800	Active TSS	Brain Germinal Matrix	brain
48	chr1:247170000-247171800	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:247170000-247171800	Active TSS	HSMM	muscle
50	chr1:247170000-247171800	Active TSS	NHDF-Ad	bronchial

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