Variant report

Variant	rs2305265
Chromosome Location	chr3:135974611-135974612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr3:135974350-135974822	HepG2	liver:	n/a	n/a
2	SMC3	chr3:135974394-135974834	HepG2	liver:	n/a	n/a
3	TBP	chr3:135974397-135974839	HepG2	liver:	n/a	n/a
4	EP300	chr3:135974505-135974931	HepG2	liver:	n/a	n/a
5	HNF4G	chr3:135974474-135974901	HepG2	liver:	n/a	chr3:135974677-135974692
6	HEY1	chr3:135974420-135974802	HepG2	liver:	n/a	n/a
7	FOXA1	chr3:135974385-135974908	HepG2	liver:	n/a	n/a
8	FOXA2	chr3:135974503-135974912	HepG2	liver:	n/a	n/a
9	JUND	chr3:135974438-135974870	HepG2	liver:	n/a	chr3:135974664-135974673
10	CREB1	chr3:135974280-135974904	HepG2	liver:	n/a	chr3:135974662-135974675
11	ARID3A	chr3:135974327-135974914	HepG2	liver:	n/a	n/a
12	CREB1	chr3:135974464-135974975	HepG2	liver:	n/a	chr3:135974662-135974675
13	MAZ	chr3:135974526-135974816	HepG2	liver:	n/a	n/a
14	RCOR1	chr3:135974512-135974817	HepG2	liver:	n/a	n/a
15	RFX5	chr3:135974442-135974812	HepG2	liver:	n/a	n/a
16	HNF4A	chr3:135974481-135974845	HepG2	liver:	n/a	chr3:135974676-135974691
17	CEBPB	chr3:135974492-135974848	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:135974547-135974830	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:135974351-135974929	HepG2	liver:	n/a	n/a
20	MYBL2	chr3:135974438-135974996	HepG2	liver:	n/a	n/a
21	HNF4A	chr3:135974414-135974919	HepG2	liver:	n/a	chr3:135974676-135974691
22	JUN	chr3:135974498-135974870	HepG2	liver:	n/a	chr3:135974663-135974676 chr3:135974664-135974673
23	RAD21	chr3:135974546-135974838	HepG2	liver:	n/a	n/a
24	FOXA1	chr3:135974421-135975052	HepG2	liver:	n/a	n/a
25	MAFK	chr3:135974518-135974799	HepG2	liver:	n/a	n/a
26	MYBL2	chr3:135974432-135974934	HepG2	liver:	n/a	n/a
27	HNF4A	chr3:135974454-135974962	HepG2	liver:	n/a	chr3:135974676-135974691
28	BHLHE40	chr3:135974568-135974795	HepG2	liver:	n/a	n/a
29	MXI1	chr3:135974426-135974846	HepG2	liver:	n/a	n/a
30	MAX	chr3:135974413-135974799	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:135967895..135971293-chr3:135973278..135977937,5	MCF-7	breast:
2	chr3:135968568..135972532-chr3:135974380..135977728,5	K562	blood:
3	chr3:135913308..135916970-chr3:135973705..135976198,3	K562	blood:

Variant related genes	Relation type
PCCB	TF binding region
ENSG00000174579	Chromatin interaction
ENSG00000114054	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13081671	1.00[CHB][hapmap]
rs16843892	1.00[CEU][hapmap]
rs35352346	1.00[CHB][hapmap]
rs3732519	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.90[ASN][1000 genomes]
rs3732520	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3732521	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3821444	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs4317048	1.00[MEX][hapmap]
rs477142	1.00[MEX][hapmap]
rs6439629	1.00[CHB][hapmap]
rs6771253	1.00[CHB][hapmap]
rs6786532	1.00[CHB][hapmap]
rs6796523	0.95[ASN][1000 genomes]
rs7615252	0.90[ASN][1000 genomes]
rs7633573	0.90[ASN][1000 genomes]
rs9831321	1.00[CHD][hapmap]
rs9853387	1.00[CHD][hapmap]
rs9860801	1.00[CHD][hapmap]
rs9868120	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv933522	chr3:135968919-135981180	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
4	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970000-135977200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:135970000-135980000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:135970200-135975000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:135970200-135979000	Weak transcription	Esophagus	oesophagus
5	chr3:135970200-135980400	Weak transcription	Gastric	stomach
6	chr3:135970200-135984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:135970200-135996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:135970400-135974800	Weak transcription	Colonic Mucosa	Colon
9	chr3:135970400-135975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:135970400-135975000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:135970400-135975200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:135970400-135975200	Weak transcription	NH-A	brain
13	chr3:135970400-135975600	Weak transcription	Aorta	Aorta
14	chr3:135970400-135975600	Weak transcription	Brain Germinal Matrix	brain
15	chr3:135970400-135975600	Weak transcription	Lung	lung
16	chr3:135970400-135975800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:135970400-135979000	Weak transcription	HUVEC	blood vessel
18	chr3:135970400-135981600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:135970400-135995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:135970600-135974800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:135970600-135975000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:135970600-135975000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:135970600-135975000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:135970600-135975000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:135970600-135975000	Weak transcription	Psoas Muscle	Psoas
26	chr3:135970600-135975200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:135970600-135975600	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:135970600-135975800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:135970600-135975800	Weak transcription	Spleen	Spleen
30	chr3:135970600-135975800	Weak transcription	HSMMtube	muscle
31	chr3:135970600-135976800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:135970600-135977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:135970600-135977000	Weak transcription	Fetal Kidney	kidney
34	chr3:135970600-135979200	Weak transcription	A549	lung
35	chr3:135970600-135979400	Weak transcription	HSMM	muscle
36	chr3:135970600-135979400	Weak transcription	NHDF-Ad	bronchial
37	chr3:135970600-135985200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:135970600-135985200	Weak transcription	HMEC	breast
39	chr3:135970600-135987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:135970600-135998800	Weak transcription	Fetal Brain Male	brain
41	chr3:135970600-135999200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:135970600-135999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:135970800-135974800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:135970800-135977200	Weak transcription	Right Ventricle	heart
46	chr3:135970800-135979200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:135970800-135981200	Weak transcription	Fetal Heart	heart
48	chr3:135970800-135986000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:135970800-135995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:135970800-135998000	Weak transcription	Hela-S3	cervix

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