Variant report

Variant	rs4680307
Chromosome Location	chr3:151000939-151000940
allele	A/T
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	CTCF	chr3:151000800-151000950	GM12874	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
2	CTCF	chr3:151000860-151001010	Caco-2	colon:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
3	CTCF	chr3:151000800-151000950	HPF	lung:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
4	CTCF	chr3:151000840-151000990	HepG2	liver:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
5	STAT3	chr3:151000773-151000973	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr3:151000601-151001186	HepG2	liver:	n/a	chr3:151001017-151001024 chr3:151001016-151001024 chr3:151001012-151001023
7	CTCF	chr3:151000840-151000990	HPAF	blood vessel:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
8	CTCF	chr3:151000800-151000950	BJ	skin:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
9	CTCF	chr3:151000860-151001010	GM12865	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
10	CTCF	chr3:151000649-151001037	H1-hESC	embryonic stem cell:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
11	CTCF	chr3:151000800-151000950	SK-N-SH_RA	brain:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
12	CTCF	chr3:151000840-151000990	GM12878	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
13	CTCF	chr3:151000800-151000950	MCF-7	breast:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
14	RAD21	chr3:151000632-151001140	H1-hESC	embryonic stem cell:	n/a	chr3:151000897-151000916
15	CTCF	chr3:151000781-151001027	Pancreas_OC	pancreas:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
16	CTCF	chr3:151000786-151001006	LNCaP	prostate:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
17	CTCF	chr3:151000840-151000990	GM12873	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
18	CTCF	chr3:151000820-151000970	HBMEC	blood vessel:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
19	RAD21	chr3:151000789-151001021	K562	blood:	n/a	chr3:151000897-151000916
20	CTCF	chr3:151000800-151000950	HRE	kidney:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
21	CTCF	chr3:151000820-151000970	HEK293	kidney:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
22	CTCF	chr3:151000820-151000970	AG04450	lung:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
23	CTCF	chr3:151000812-151000993	GM13977	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
24	CTCF	chr3:151000820-151000970	AG09309	skin:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
25	CTCF	chr3:151000820-151000970	Hela-S3	cervix:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
26	CTCF	chr3:151000800-151000950	AG04449	skin:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
27	CTCF	chr3:151000759-151001031	T-47D	breast:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
28	RAD21	chr3:151000667-151001091	Hela-S3	cervix:	n/a	chr3:151000897-151000916
29	CTCF	chr3:151000761-151001020	Kidney_OC	kidney:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
30	CTCF	chr3:151000659-151001130	T-47D	breast:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
31	CTCF	chr3:151000820-151000970	HMF	breast:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
32	RAD21	chr3:151000563-151001192	HepG2	liver:	n/a	chr3:151000897-151000916
33	FOS	chr3:151000841-151001119	MCF10A-Er-Src	breast:	n/a	chr3:151001017-151001024 chr3:151001016-151001024 chr3:151001012-151001023
34	CTCF	chr3:151000880-151001030	HCT-116	colon:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
35	CTCF	chr3:151000776-151001025	K562	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
36	ZNF384	chr3:151000713-151001046	K562	blood:	n/a	n/a
37	RAD21	chr3:151000665-151001087	HepG2	liver:	n/a	chr3:151000897-151000916
38	CTCF	chr3:151000786-151001018	Lung_OC	lung:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
39	CTCF	chr3:151000820-151000970	MCF-7	breast:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
40	RAD21	chr3:151000375-151001693	SK-N-SH	brain:	n/a	chr3:151000897-151000916
41	CTCF	chr3:151000791-151000985	Gliobla	brain:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
42	POLR2A	chr3:150999389-151002034	IMR90	lung:	n/a	n/a
43	RAD21	chr3:151000664-151001055	GM12878	blood:	n/a	chr3:151000897-151000916
44	CTCF	chr3:151000820-151000970	GM12864	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
45	CTCF	chr3:151000771-151001026	MCF-7	breast:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
46	CTCF	chr3:151000900-151001050	HCM	heart:	n/a	n/a
47	FOS	chr3:151000852-151001151	MCF10A-Er-Src	breast:	n/a	chr3:151001017-151001024 chr3:151001016-151001024 chr3:151001012-151001023
48	CTCF	chr3:151000492-151001277	HCT-116	colon:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
49	CTCF	chr3:151000820-151000970	GM12872	blood:	n/a	chr3:151000899-151000917 chr3:151000894-151000915
50	CTCF	chr3:151000840-151000990	AG10803	skin:	n/a	chr3:151000899-151000917 chr3:151000894-151000915

No.	Distal block	Cell Line	Cell type
1	chr3:150999410..151001887-chr3:151020524..151022989,3	K562	blood:
2	chr3:150945314..150946018-chr3:151000542..151001496,4	MCF-7	breast:
3	chr3:151000556..151002534-chr3:151004666..151007655,2	K562	blood:
4	chr3:150945248..150946199-chr3:151000415..151001358,11	MCF-7	breast:
5	chr3:150884926..150885528-chr3:151000808..151001565,2	MCF-7	breast:
6	chr3:150885677..150886771-chr3:151000218..151001281,8	MCF-7	breast:
7	chr3:150726210..150727181-chr3:151000427..151001299,2	MCF-7	breast:
8	chr3:150931996..150932500-chr3:151000554..151001181,2	MCF-7	breast:
9	chr3:150885743..150886838-chr3:151000415..151001396,8	K562	blood:
10	chr3:150874137..150874640-chr3:151000437..151000981,2	K562	blood:
11	chr3:150945162..150946781-chr3:151000301..151001339,9	K562	blood:

Variant related genes	Relation type
P2RY14	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10513391	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935831	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935832	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935833	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10935839	0.87[CEU][hapmap];0.87[YRI][hapmap]
rs11925037	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11926145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12107539	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12485537	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12486265	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12497019	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12497330	0.87[CEU][hapmap]
rs12636396	0.94[CHB][hapmap]
rs12637988	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12639390	0.83[CHB][hapmap]
rs13079391	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13095610	0.87[CEU][hapmap]
rs1388617	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16863287	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882013	0.82[CHB][hapmap]
rs2307020	0.87[CEU][hapmap];0.84[YRI][hapmap]
rs28527299	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2904430	0.81[YRI][hapmap]
rs34347156	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34708786	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35144003	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35786948	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732759	0.87[CEU][hapmap]
rs3773621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806636	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4680256	0.82[CHB][hapmap]
rs4680315	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680356	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55705054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56087525	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62282988	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62283022	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6440738	0.87[CEU][hapmap]
rs66524723	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66927386	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6767192	0.87[CEU][hapmap]
rs6784934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785930	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6790448	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs6793898	0.87[CEU][hapmap];0.84[YRI][hapmap]
rs6796501	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6801155	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6801273	0.87[CEU][hapmap]
rs6804769	0.87[CEU][hapmap]
rs6808091	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7428575	0.87[CEU][hapmap]
rs7618206	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7644001	0.87[CEU][hapmap];0.86[YRI][hapmap]
rs7648875	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2754555	chr3:150968302-151054302	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150983000-151011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:150984400-151022400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:150984600-151003600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:150984600-151003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:150994600-151003600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:150996200-151001000	Weak transcription	Stomach Mucosa	stomach
7	chr3:150997000-151001000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:150997000-151001000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:150997000-151001000	Weak transcription	Dnd41	blood
10	chr3:150997200-151001200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:150997200-151001600	Weak transcription	Fetal Lung	lung
12	chr3:150997400-151001200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:150997400-151001200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:150997600-151001200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:150997600-151001800	Weak transcription	Fetal Stomach	stomach
16	chr3:150998400-151001800	Weak transcription	Fetal Thymus	thymus
17	chr3:150998600-151001000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:150998800-151001200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:150999200-151002000	Enhancers	Colon Smooth Muscle	Colon
20	chr3:150999400-151011200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:150999800-151001800	Enhancers	NHDF-Ad	bronchial
22	chr3:150999800-151002600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:151000000-151001200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:151000200-151002000	Enhancers	Brain Anterior Caudate	brain
25	chr3:151000200-151002400	Enhancers	NHLF	lung
26	chr3:151000400-151001200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:151000400-151001400	Enhancers	Brain Hippocampus Middle	brain
28	chr3:151000400-151002800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:151000600-151001000	Weak transcription	NH-A	brain
30	chr3:151000600-151001200	Enhancers	Brain Substantia Nigra	brain
31	chr3:151000600-151001800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:151000600-151002800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:151000800-151001600	Enhancers	Duodenum Mucosa	Duodenum
34	chr3:151000800-151001600	Weak transcription	Fetal Kidney	kidney
35	chr3:151000800-151002000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:151000800-151002200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:151000800-151002400	Enhancers	Primary T cells from cord blood	blood

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