Variant report

Variant	esv3414871
Chromosome Location	chr3:195933780-195935853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:366)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr3:195934713-195934988	K562	blood:	n/a	n/a
2	ATF3	chr3:195935158-195935369	K562	blood:	n/a	n/a
3	BACH1	chr3:195933888-195934343	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr3:195935191-195935424	K562	blood:	n/a	n/a
5	CBX3	chr3:195934028-195934433	K562	blood:	n/a	n/a
6	CBX3	chr3:195935061-195935503	K562	blood:	n/a	n/a
7	CCNT2	chr3:195935230-195935267	K562	blood:	n/a	n/a
8	CEBPB	chr3:195935358-195935438	HepG2	liver:	n/a	n/a
9	CHD2	chr3:195935517-195935584	HepG2	liver:	n/a	n/a
10	CHD2	chr3:195935307-195935343	K562	blood:	n/a	n/a
11	CTCF	chr3:195934213-195934424	K562	blood:	n/a	n/a
12	CTCF	chr3:195934305-195934371	GM12892	blood:	n/a	n/a
13	CTCF	chr3:195934191-195934468	K562	blood:	n/a	n/a
14	CTCF	chr3:195933960-195934110	GM12866	blood:	n/a	n/a
15	CTCF	chr3:195934192-195934427	K562	blood:	n/a	n/a
16	CTCF	chr3:195934240-195934390	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr3:195934259-195934397	K562	blood:	n/a	n/a
18	CTCF	chr3:195934299-195934372	Fibrobl	skin:	n/a	n/a
19	CTCF	chr3:195934200-195934350	HCPEpiC	choroid plexus:	n/a	n/a
20	CUX1	chr3:195935268-195935532	K562	blood:	n/a	n/a
21	E2F6	chr3:195934753-195935556	K562	blood:	n/a	n/a
22	E2F6	chr3:195935078-195935392	K562	blood:	n/a	n/a
23	E2F6	chr3:195934058-195934419	K562	blood:	n/a	chr3:195934211-195934222
24	E2F6	chr3:195933454-195934420	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222
25	E2F6	chr3:195934072-195934341	K562	blood:	n/a	chr3:195934211-195934222
26	E2F6	chr3:195934701-195935639	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr3:195933835-195934450	K562	blood:	n/a	chr3:195934211-195934222
28	E2F6	chr3:195935178-195935402	K562	blood:	n/a	n/a
29	E2F6	chr3:195933995-195934428	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222
30	E2F6	chr3:195934708-195935483	H1-hESC	embryonic stem cell:	n/a	n/a
31	EGR1	chr3:195934920-195935437	K562	blood:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
32	EGR1	chr3:195934662-195935436	K562	blood:	n/a	chr3:195934702-195934715 chr3:195934701-195934716 chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
33	EGR1	chr3:195935021-195935583	ECC-1	luminal epithelium:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
34	EGR1	chr3:195934997-195935413	H1-hESC	embryonic stem cell:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
35	EGR1	chr3:195934626-195934869	K562	blood:	n/a	chr3:195934702-195934715 chr3:195934701-195934716
36	EGR1	chr3:195935024-195935586	ECC-1	luminal epithelium:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
37	ELF1	chr3:195935055-195935491	K562	blood:	n/a	chr3:195935370-195935383
38	ELF1	chr3:195935154-195935577	K562	blood:	n/a	chr3:195935370-195935383
39	ELK1	chr3:195935341-195935398	K562	blood:	n/a	n/a
40	GTF2F1	chr3:195935244-195935422	H1-hESC	embryonic stem cell:	n/a	n/a
41	HCFC1	chr3:195935242-195935389	K562	blood:	n/a	n/a
42	HDAC2	chr3:195934154-195934376	K562	blood:	n/a	n/a
43	HEY1	chr3:195934919-195935113	K562	blood:	n/a	n/a
44	HEY1	chr3:195935161-195935463	K562	blood:	n/a	n/a
45	HEY1	chr3:195934178-195934388	K562	blood:	n/a	n/a
46	HMGN3	chr3:195934158-195934389	K562	blood:	n/a	n/a
47	HMGN3	chr3:195935099-195935382	K562	blood:	n/a	n/a
48	IRF1	chr3:195934679-195935494	K562	blood:	n/a	n/a
49	IRF1	chr3:195933924-195934471	K562	blood:	n/a	n/a
50	JUN	chr3:195934039-195934239	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195934604-195934654	HIPEpiC	eye:	n/a
2	chr3:195934355-195934405	MCF10A-Er-Src	breast:	n/a
3	chr3:195934604-195934654	AoSMC	blood vessel:	n/a
4	chr3:195934411-195934461	Jurkat	blood:	n/a
5	chr3:195934355-195934405	HAEpiC	amniotic membrane:	n/a
6	chr3:195934213-195934263	GM06990	blood:	n/a
7	chr3:195934355-195934405	HEK293	kidney:	embryo
8	chr3:195934355-195934405	RPTEC	kidney:	n/a
9	chr3:195934350-195934400	HNPCEpiC	eye:	n/a
10	chr3:195934411-195934461	CMK	blood:	n/a
11	chr3:195934411-195934461	HPAEpiC	pulmonary alveolar:	n/a
12	chr3:195934604-195934654	Jurkat	blood:	n/a
13	chr3:195934411-195934461	HAEpiC	amniotic membrane:	n/a
14	chr3:195934604-195934654	HEK293	kidney:	embryo
15	chr3:195934213-195934263	AG09309	skin:	n/a
16	chr3:195934057-195934107	AoSMC	blood vessel:	n/a
17	chr3:195934057-195934107	HCPEpiC	choroid plexus:	n/a
18	chr3:195934604-195934654	HAEpiC	amniotic membrane:	n/a
19	chr3:195934411-195934461	HCT-116	colon:	n/a
20	chr3:195934355-195934405	A549	lung:	n/a
21	chr3:195934355-195934405	HEEpiC	esophagus:	n/a
22	chr3:195934411-195934461	HMEC	breast:	n/a
23	chr3:195934057-195934107	Caco-2	colon:	n/a
24	chr3:195934355-195934405	HNPCEpiC	eye:	n/a
25	chr3:195934350-195934400	HEEpiC	esophagus:	n/a
26	chr3:195934350-195934400	PFSK-1	brain:	n/a
27	chr3:195934411-195934461	HRCEpiC	kidney:	n/a
28	chr3:195934213-195934263	AG10803	skin:	n/a
29	chr3:195934057-195934107	AG04449	skin:	fetal
30	chr3:195934355-195934405	NHDF-neo	bronchial:	n/a
31	chr3:195934604-195934654	GM06990	blood:	n/a
32	chr3:195934355-195934405	HCPEpiC	choroid plexus:	n/a
33	chr3:195934350-195934400	Caco-2	colon:	n/a
34	chr3:195934057-195934107	HRE	kidney:	n/a
35	chr3:195934604-195934654	SK-N-SH_RA	brain:	n/a
36	chr3:195934350-195934400	ovcar-3	ovarian:	n/a
37	chr3:195934411-195934461	SK-N-MC	brain:	n/a
38	chr3:195934057-195934107	IMR90	lung:	fetal
39	chr3:195934411-195934461	T-47D	breast:	n/a
40	chr3:195934350-195934400	NHBE	bronchial:	n/a
41	chr3:195934411-195934461	GM19239	blood:	n/a
42	chr3:195934350-195934400	MCF10A-Er-Src	breast:	n/a
43	chr3:195934350-195934400	GM12891	blood:	n/a
44	chr3:195934355-195934405	AG10803	skin:	n/a
45	chr3:195934604-195934654	NHDF-neo	bronchial:	n/a
46	chr3:195934350-195934400	SK-N-SH_RA	brain:	n/a
47	chr3:195934355-195934405	H1-hESC	embryonic stem cell:	embryo
48	chr3:195934350-195934400	NHDF-neo	bronchial:	n/a
49	chr3:195934057-195934107	HCT-116	colon:	n/a
50	chr3:195934213-195934263	HMEC	breast:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195819342..195820879-chr3:195934319..195935878,2	MCF-7	breast:
2	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
3	chr3:195934199..195936662-chr3:196249592..196251250,2	K562	blood:
4	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
5	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
6	chr3:195928850..195930702-chr3:195933758..195935376,2	K562	blood:
7	chr3:195935114..195937817-chr3:195940401..195943040,3	K562	blood:
8	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
9	chr3:195933308..195935063-chr3:196012646..196014729,2	K562	blood:
10	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:
11	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
12	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
13	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:
14	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
15	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
16	chr3:195934241..195936316-chr3:196228788..196231012,3	K562	blood:
17	chr3:195807633..195809874-chr3:195932027..195934415,2	MCF-7	breast:
18	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:

No data

Variant related genes	Relation type
SLC51A	TF binding region
SLC51A	CpG island
ENSG00000145107	chromatin interactions
ENSG00000222335	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000163959	chromatin interactions
ENSG00000163961	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000252174	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80170877	chr3:195933797-195933798	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs4916501	chr3:195933805-195933806	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542587403	chr3:195933915-195933916	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs571485658	chr3:195933934-195933935	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs561223256	chr3:195933969-195933970	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs528124864	chr3:195934004-195934005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs540228785	chr3:195934006-195934007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs184898389	chr3:195934040-195934041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs532262542	chr3:195934047-195934048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs117885738	chr3:195934057-195934058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs569501729	chr3:195934064-195934065	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs530300292	chr3:195934111-195934112	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs73083217	chr3:195934129-195934130	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567156004	chr3:195934152-195934153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs534185532	chr3:195934161-195934162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs558542589	chr3:195934181-195934182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs570484206	chr3:195934214-195934215	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs139902270	chr3:195934253-195934254	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs373650309	chr3:195934264-195934265	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs75748256	chr3:195934276-195934277	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs200718632	chr3:195934286-195934287	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs372760698	chr3:195934378-195934379	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs554424582	chr3:195934401-195934402	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs573104021	chr3:195934458-195934459	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs543735611	chr3:195934742-195934743	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs564897681	chr3:195934757-195934758	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs113823374	chr3:195934791-195934792	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs146400917	chr3:195934813-195934814	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs368136832	chr3:195934814-195934815	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs563415262	chr3:195934868-195934869	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs76531186	chr3:195934884-195934885	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs190302233	chr3:195934914-195934915	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs548772941	chr3:195934918-195934919	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs138310339	chr3:195934956-195934957	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs79649536	chr3:195934972-195934973	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
36	rs370401765	chr3:195935000-195935001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs149818636	chr3:195935011-195935012	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
38	rs144857127	chr3:195935021-195935022	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs570543363	chr3:195935023-195935024	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs139752472	chr3:195935031-195935032	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs532383704	chr3:195935039-195935040	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs111396732	chr3:195935073-195935074	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
43	rs12494866	chr3:195935124-195935125	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535540882	chr3:195935138-195935139	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs115694553	chr3:195935183-195935184	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs572926137	chr3:195935187-195935188	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs12497404	chr3:195935207-195935208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs202176784	chr3:195935211-195935212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs370245048	chr3:195935222-195935223	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs372579333	chr3:195935260-195935261	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
2	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
3	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
4	chr3:195929800-195933800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:195929800-195933800	Weak transcription	Gastric	stomach
6	chr3:195929800-195934000	Weak transcription	Ovary	ovary
7	chr3:195930200-195933800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr3:195930400-195934000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:195930600-195934000	Weak transcription	Esophagus	oesophagus
10	chr3:195930800-195933800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:195930800-195933800	Weak transcription	Placenta	Placenta
12	chr3:195930800-195933800	Weak transcription	Spleen	Spleen
13	chr3:195930800-195934000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:195931000-195933800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:195931000-195933800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:195931600-195933800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:195931600-195934000	Weak transcription	Primary B cells from cord blood	blood
18	chr3:195932400-195933800	Weak transcription	GM12878-XiMat	blood
19	chr3:195932600-195933800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:195932600-195933800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:195932600-195933800	Weak transcription	Liver	Liver
22	chr3:195932800-195934800	Weak transcription	HepG2	liver
23	chr3:195933000-195934000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:195933600-195933800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr3:195933600-195933800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:195933600-195934000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr3:195933600-195934000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:195933600-195934200	Enhancers	Pancreas	Pancrea
29	chr3:195933600-195934200	Flanking Active TSS	K562	blood
30	chr3:195933600-195934400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr3:195933600-195935200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr3:195933600-195935400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr3:195933800-195934000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:195933800-195934000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:195933800-195934000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:195933800-195934000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:195933800-195934000	Enhancers	Primary hematopoietic stem cells	blood
38	chr3:195933800-195934000	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr3:195933800-195934000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:195933800-195934000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr3:195933800-195934000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr3:195933800-195934000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr3:195933800-195934000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:195933800-195934000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:195933800-195934000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:195933800-195934000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:195933800-195934000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:195933800-195934000	Enhancers	Liver	Liver
49	chr3:195933800-195934000	Enhancers	Placenta	Placenta
50	chr3:195933800-195934000	Enhancers	Rectal Mucosa Donor 29	rectum

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