Variant report

Variant	esv3343320
Chromosome Location	chr1:247274154-247276702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:353)
CpG islands
(count:978)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247275900-247276723	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:247273976-247274367	K562	blood:	n/a	n/a
3	ATF1	chr1:247273899-247274258	K562	blood:	n/a	n/a
4	BACH1	chr1:247274741-247274742	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:247276594-247276742	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:247274377-247274386	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:247275257-247275476	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:247275291-247275489	K562	blood:	n/a	n/a
9	BCLAF1	chr1:247273936-247274355	K562	blood:	n/a	n/a
10	BHLHE40	chr1:247273922-247274377	K562	blood:	n/a	n/a
11	BHLHE40	chr1:247276350-247276737	HepG2	liver:	n/a	n/a
12	BHLHE40	chr1:247274839-247275896	HepG2	liver:	n/a	chr1:247275614-247275630
13	BHLHE40	chr1:247274816-247275552	K562	blood:	n/a	n/a
14	BHLHE40	chr1:247275761-247275831	K562	blood:	n/a	n/a
15	BRCA1	chr1:247275738-247275926	HepG2	liver:	n/a	n/a
16	BRCA1	chr1:247275122-247275252	HepG2	liver:	n/a	n/a
17	BRCA1	chr1:247276484-247276640	HepG2	liver:	n/a	n/a
18	CBX3	chr1:247273868-247274371	K562	blood:	n/a	n/a
19	CBX3	chr1:247273762-247274572	K562	blood:	n/a	n/a
20	CBX3	chr1:247274963-247275912	K562	blood:	n/a	n/a
21	CCNT2	chr1:247273918-247275918	K562	blood:	n/a	n/a
22	CEBPB	chr1:247274003-247274263	K562	blood:	n/a	n/a
23	CEBPB	chr1:247273913-247274328	K562	blood:	n/a	n/a
24	CEBPD	chr1:247273827-247274410	K562	blood:	n/a	n/a
25	CEBPD	chr1:247274982-247275541	HepG2	liver:	n/a	n/a
26	CEBPD	chr1:247276327-247276598	HepG2	liver:	n/a	n/a
27	CEBPD	chr1:247273816-247274408	K562	blood:	n/a	n/a
28	CEBPD	chr1:247275082-247275591	K562	blood:	n/a	n/a
29	CHD1	chr1:247274697-247274777	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr1:247275222-247275495	K562	blood:	n/a	n/a
31	CHD2	chr1:247275082-247275678	HepG2	liver:	n/a	n/a
32	CHD2	chr1:247274611-247274669	K562	blood:	n/a	n/a
33	CHD2	chr1:247274012-247274212	K562	blood:	n/a	n/a
34	CHD2	chr1:247275334-247275404	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:247274980-247275130	AG04449	skin:	n/a	n/a
36	CTCF	chr1:247276380-247276530	RPTEC	kidney:	n/a	n/a
37	CTCF	chr1:247276529-247276564	Gliobla	brain:	n/a	n/a
38	CTCF	chr1:247274980-247275130	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr1:247276477-247276543	HepG2	liver:	n/a	chr1:247276521-247276537 chr1:247276520-247276538 chr1:247276515-247276536
40	CTCF	chr1:247276460-247276610	HepG2	liver:	n/a	chr1:247276521-247276537 chr1:247276520-247276538 chr1:247276515-247276536
41	CUX1	chr1:247273995-247274540	K562	blood:	n/a	n/a
42	E2F6	chr1:247274949-247275662	A549	lung:	n/a	chr1:247275577-247275587
43	E2F6	chr1:247273892-247274249	K562	blood:	n/a	n/a
44	E2F6	chr1:247275000-247275587	A549	lung:	n/a	chr1:247275577-247275587
45	E2F6	chr1:247274248-247275874	K562	blood:	n/a	chr1:247275577-247275587 chr1:247275750-247275759
46	E2F6	chr1:247274556-247274925	K562	blood:	n/a	n/a
47	E2F6	chr1:247273922-247275849	K562	blood:	n/a	chr1:247275577-247275587 chr1:247275750-247275759
48	E2F6	chr1:247275037-247275388	K562	blood:	n/a	n/a
49	EGR1	chr1:247275016-247275344	K562	blood:	n/a	n/a
50	EGR1	chr1:247274491-247274902	K562	blood:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247276096-247276146	HRPEpiC	eye:	n/a
2	chr1:247276647-247276697	Hepatocyte	liver:	n/a
3	chr1:247276096-247276146	HRPEpiC	eye:	n/a
4	chr1:247276647-247276697	Hepatocyte	liver:	n/a
5	chr1:247275344-247275394	MCF10A-Er-Src	breast:	n/a
6	chr1:247274370-247274420	BJ	skin:	n/a
7	chr1:247275998-247276048	HAEpiC	amniotic membrane:	n/a
8	chr1:247275998-247276048	HEK293	kidney:	embryo
9	chr1:247275344-247275394	U87	brain:	n/a
10	chr1:247275735-247275785	ECC-1	luminal epithelium:	n/a
11	chr1:247275469-247275519	SAEC	small airway:	n/a
12	chr1:247275735-247275785	BJ	skin:	n/a
13	chr1:247275808-247275858	HIPEpiC	eye:	n/a
14	chr1:247274777-247274827	SK-N-SH_RA	brain:	n/a
15	chr1:247274454-247274504	ProgFib	skin:	n/a
16	chr1:247275998-247276048	HIPEpiC	eye:	n/a
17	chr1:247275542-247275592	NHDF-neo	bronchial:	n/a
18	chr1:247275998-247276048	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:247274454-247274504	SK-N-MC	brain:	n/a
20	chr1:247274370-247274420	HAEpiC	amniotic membrane:	n/a
21	chr1:247274370-247274420	HEK293	kidney:	embryo
22	chr1:247274454-247274504	ECC-1	luminal epithelium:	n/a
23	chr1:247276096-247276146	GM12892	blood:	n/a
24	chr1:247274709-247274759	SKMC	muscle:	n/a
25	chr1:247275469-247275519	HepG2	liver:	n/a
26	chr1:247274709-247274759	MCF-7	breast:	n/a
27	chr1:247274370-247274420	Jurkat	blood:	n/a
28	chr1:247275326-247275376	HCM	heart:	n/a
29	chr1:247274709-247274759	NB4	blood:	n/a
30	chr1:247276647-247276697	HCM	heart:	n/a
31	chr1:247275542-247275592	SK-N-MC	brain:	n/a
32	chr1:247275998-247276048	BJ	skin:	n/a
33	chr1:247275326-247275376	AG09309	skin:	n/a
34	chr1:247274370-247274420	ovcar-3	ovarian:	n/a
35	chr1:247276096-247276146	HNPCEpiC	eye:	n/a
36	chr1:247275326-247275376	Caco-2	colon:	n/a
37	chr1:247275735-247275785	HUVEC	blood vessel:	n/a
38	chr1:247275872-247275922	SAEC	small airway:	n/a
39	chr1:247276096-247276146	HUVEC	blood vessel:	n/a
40	chr1:247275344-247275394	HNPCEpiC	eye:	n/a
41	chr1:247276647-247276697	BJ	skin:	n/a
42	chr1:247275735-247275785	LNCaP	prostate:	n/a
43	chr1:247275326-247275376	HNPCEpiC	eye:	n/a
44	chr1:247275998-247276048	CMK	blood:	n/a
45	chr1:247275326-247275376	AG04450	lung:	fetal
46	chr1:247275735-247275785	NT2-D1	testis:	n/a
47	chr1:247274709-247274759	MCF10A-Er-Src	breast:	n/a
48	chr1:247275542-247275592	BJ	skin:	n/a
49	chr1:247275344-247275394	GM12891	blood:	n/a
50	chr1:247275469-247275519	AG04450	lung:	fetal

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
2	chr1:247274493..247276812-chr1:247371838..247375899,3	K562	blood:
3	chr1:247236707..247239427-chr1:247272612..247275121,2	K562	blood:
4	chr1:247261271..247263933-chr1:247276366..247278097,2	K562	blood:
5	chr1:247240305..247243596-chr1:247273338..247276480,4	K562	blood:
6	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
7	chr1:247256992..247261249-chr1:247272069..247275489,5	K562	blood:
8	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
9	chr1:247271757..247273641-chr1:247273728..247275536,3	MCF-7	breast:
10	chr1:247241483..247244418-chr1:247273727..247276454,2	MCF-7	breast:
11	chr1:247276067..247278651-chr1:247493890..247496062,2	MCF-7	breast:
12	chr1:247275409..247277041-chr1:247418740..247421372,2	K562	blood:

No data

Variant related genes	Relation type
C1orf229	TF binding region
C1orf229	CpG island
ENSG00000153207	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000197617	chromatin interactions
ENSG00000227671	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542484228	chr1:247274158-247274159	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575095580	chr1:247274191-247274192	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540511950	chr1:247274193-247274194	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138275002	chr1:247274200-247274201	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs74152930	chr1:247274215-247274216	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552290535	chr1:247274293-247274294	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12140983	chr1:247274351-247274352	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531658373	chr1:247274354-247274355	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs149613325	chr1:247274359-247274360	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs568328177	chr1:247274379-247274380	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372844861	chr1:247274409-247274410	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs73135914	chr1:247274484-247274485	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs181391973	chr1:247274516-247274517	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs539655573	chr1:247274527-247274528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs113338290	chr1:247274540-247274541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs556349106	chr1:247274575-247274576	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs569755137	chr1:247274576-247274577	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs547457449	chr1:247274588-247274589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs114948365	chr1:247274638-247274639	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs12031553	chr1:247274701-247274702	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs571928030	chr1:247274740-247274741	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs540573120	chr1:247274753-247274754	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554036898	chr1:247274770-247274771	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs143099468	chr1:247274839-247274840	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs545987988	chr1:247274854-247274855	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs562909507	chr1:247274861-247274862	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs531848129	chr1:247274873-247274874	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs369865565	chr1:247274883-247274884	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs73135916	chr1:247274899-247274900	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs562139376	chr1:247274987-247274988	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs527682577	chr1:247275000-247275001	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs551464466	chr1:247275013-247275014	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs547773966	chr1:247275054-247275055	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs570763569	chr1:247275068-247275069	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs533235929	chr1:247275083-247275084	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs377558360	chr1:247275091-247275092	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs549965032	chr1:247275208-247275209	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs141557009	chr1:247275218-247275219	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs535567878	chr1:247275368-247275369	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs200639019	chr1:247275372-247275373	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369551959	chr1:247275400-247275401	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs555168373	chr1:247275435-247275436	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs565380347	chr1:247275458-247275459	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs372879856	chr1:247275505-247275506	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs534324936	chr1:247275532-247275533	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs536839631	chr1:247275534-247275535	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs557283154	chr1:247275574-247275575	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs184202826	chr1:247275593-247275594	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs375708821	chr1:247275603-247275604	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs546051471	chr1:247275630-247275631	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247268400-247275600	Weak transcription	Fetal Heart	heart
2	chr1:247268600-247274200	Weak transcription	Right Ventricle	heart
3	chr1:247273800-247274200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:247273800-247274200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:247273800-247274200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr1:247273800-247274200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:247273800-247274400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
8	chr1:247273800-247274400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:247273800-247274600	Flanking Active TSS	K562	blood
10	chr1:247273800-247276000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:247273800-247276000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
13	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:247274000-247274200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:247274000-247274200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:247274000-247274200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr1:247274000-247274200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:247274000-247274200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:247274000-247274200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:247274000-247274200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr1:247274000-247274200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
29	chr1:247274000-247274200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr1:247274000-247274200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:247274000-247274200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
32	chr1:247274000-247274200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:247274000-247274200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr1:247274000-247274200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:247274000-247274200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:247274000-247274200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:247274000-247274200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:247274000-247274200	Enhancers	Liver	Liver
39	chr1:247274000-247274200	Enhancers	Brain Anterior Caudate	brain
40	chr1:247274000-247274200	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:247274000-247274200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:247274000-247274200	Enhancers	Brain Substantia Nigra	brain
43	chr1:247274000-247274200	Flanking Active TSS	Colonic Mucosa	Colon
44	chr1:247274000-247274200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:247274000-247274200	Enhancers	Esophagus	oesophagus
46	chr1:247274000-247274200	Flanking Active TSS	Fetal Brain Female	brain
47	chr1:247274000-247274200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr1:247274000-247274200	Enhancers	Left Ventricle	heart
49	chr1:247274000-247274200	Flanking Active TSS	Ovary	ovary
50	chr1:247274000-247274200	Enhancers	Pancreas	Pancrea

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