Variant report

Variant	rs2294764
Chromosome Location	chr6:142737504-142737505
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	JUND	chr6:142737175-142737801	SK-N-SH	brain:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737434-142737444 chr6:142737435-142737443
2	TCF12	chr6:142737238-142737866	SK-N-SH	brain:	n/a	chr6:142737494-142737501
3	GATA3	chr6:142737129-142737904	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr6:142737203-142737754	SK-N-SH	brain:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737434-142737444 chr6:142737435-142737443
5	POLR2A	chr6:142737265-142737795	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr6:142737359-142737819	IMR90	lung:	n/a	n/a
7	EP300	chr6:142737328-142737646	SK-N-SH_RA	brain:	n/a	chr6:142737425-142737438
8	MAX	chr6:142737328-142737764	SK-N-SH	brain:	n/a	n/a
9	JUND	chr6:142737117-142737834	SK-N-SH	brain:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737434-142737444 chr6:142737435-142737443
10	SIN3AK20	chr6:142737332-142737705	SK-N-SH	brain:	n/a	n/a
11	MYC	chr6:142737493-142737581	HUVEC	blood vessel:	n/a	n/a
12	E2F4	chr6:142737219-142737531	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr6:142737201-142737890	SK-N-SH	brain:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737434-142737444 chr6:142737435-142737443
14	TAF1	chr6:142737370-142737603	SK-N-SH	brain:	n/a	n/a
15	FOS	chr6:142737328-142737634	MCF10A-Er-Src	breast:	n/a	chr6:142737434-142737444 chr6:142737433-142737444 chr6:142737434-142737444 chr6:142737435-142737443
16	GATA2	chr6:142737306-142737633	HUVEC	blood vessel:	n/a	n/a
17	JUND	chr6:142737095-142737912	SK-N-SH	brain:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737434-142737444 chr6:142737435-142737443
18	TEAD4	chr6:142737160-142737853	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr6:142737074-142737748	SK-N-SH	brain:	n/a	n/a
20	JUN	chr6:142737276-142737739	HUVEC	blood vessel:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737434-142737444 chr6:142737435-142737443
21	TCF12	chr6:142737113-142737920	SK-N-SH	brain:	n/a	chr6:142737494-142737501
22	POLR2A	chr6:142737229-142737828	HUVEC	blood vessel:	n/a	n/a
23	TEAD4	chr6:142737277-142737703	SK-N-SH	brain:	n/a	n/a
24	FOS	chr6:142737221-142737747	HUVEC	blood vessel:	n/a	chr6:142737434-142737444 chr6:142737680-142737691 chr6:142737433-142737444 chr6:142737434-142737444 chr6:142737435-142737443
25	FOS	chr6:142737339-142737613	MCF10A-Er-Src	breast:	n/a	chr6:142737434-142737444 chr6:142737433-142737444 chr6:142737434-142737444 chr6:142737435-142737443
26	PBX3	chr6:142737220-142737786	SK-N-SH	brain:	n/a	n/a
27	EP300	chr6:142737258-142737922	SK-N-SH	brain:	n/a	chr6:142737425-142737438
28	REST	chr6:142737376-142737636	SK-N-SH	brain:	n/a	n/a
29	MAX	chr6:142737307-142737775	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr6:142737127-142737837	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr6:142737229-142737782	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122239534..122242230-chr6:142736513..142738115,2	MCF-7	breast:

Variant related genes	Relation type
GPR126	TF binding region
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1040525	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1040526	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342060	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1360194	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1418201	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs155259	0.89[EUR][1000 genomes]
rs1891308	0.89[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2039986	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2039987	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2050157	0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2294771	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs262115	0.83[EUR][1000 genomes]
rs262119	0.89[EUR][1000 genomes]
rs262121	0.89[EUR][1000 genomes]
rs262129	0.89[EUR][1000 genomes]
rs263178	0.88[EUR][1000 genomes]
rs263179	0.88[EUR][1000 genomes]
rs263180	0.89[EUR][1000 genomes]
rs263181	0.89[EUR][1000 genomes]
rs263182	0.89[EUR][1000 genomes]
rs263183	0.89[EUR][1000 genomes]
rs263184	0.89[EUR][1000 genomes]
rs263185	0.87[EUR][1000 genomes]
rs263186	0.89[EUR][1000 genomes]
rs263187	0.89[EUR][1000 genomes]
rs263188	0.89[EUR][1000 genomes]
rs263189	0.89[EUR][1000 genomes]
rs3748069	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817929	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896582	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs611802	0.86[EUR][1000 genomes]
rs6570507	0.89[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6570508	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs6570509	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6570510	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6909857	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6929442	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6937121	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7741741	0.93[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7753012	0.90[CEU][hapmap]
rs7754638	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7755109	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7756305	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7763064	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7770386	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7774095	0.84[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776375	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373346	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389984	0.86[EUR][1000 genomes]
rs9389985	0.94[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9389986	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389987	0.89[EUR][1000 genomes]
rs9399401	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9403380	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9403381	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9403382	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9403383	0.84[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9403387	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9496346	0.94[CEU][hapmap];0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9496369	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9496374	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496392	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs962554	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972982	0.89[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:142721600-142749200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:142722000-142743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:142726800-142738000	Weak transcription	Stomach Mucosa	stomach
5	chr6:142727000-142743400	Strong transcription	HepG2	liver
6	chr6:142729200-142743200	Strong transcription	Liver	Liver
7	chr6:142730200-142747600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:142730400-142738200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:142731600-142737600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:142733000-142738600	Enhancers	NHDF-Ad	bronchial
11	chr6:142733400-142737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:142733400-142739200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:142733400-142739200	Enhancers	Osteobl	bone
14	chr6:142733600-142737800	Enhancers	HSMMtube	muscle
15	chr6:142733800-142738600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:142733800-142758000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:142734200-142739200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:142734600-142738200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:142734800-142738800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:142734800-142743200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:142735200-142738400	Genic enhancers	A549	lung
22	chr6:142735200-142760200	Weak transcription	Esophagus	oesophagus
23	chr6:142735200-142765400	Weak transcription	Hela-S3	cervix
24	chr6:142735600-142738600	Genic enhancers	HUVEC	blood vessel
25	chr6:142735600-142743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:142735800-142740200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:142735800-142765400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:142736000-142737600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:142736400-142737600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:142736600-142737800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:142736800-142737600	Strong transcription	Fetal Intestine Large	intestine
32	chr6:142736800-142737800	Enhancers	Fetal Brain Male	brain
33	chr6:142736800-142738000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:142736800-142738000	Enhancers	NHEK	skin
35	chr6:142736800-142738200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:142736800-142738200	Genic enhancers	Fetal Lung	lung
37	chr6:142736800-142738200	Enhancers	HMEC	breast
38	chr6:142736800-142738400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:142736800-142738600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:142736800-142738600	Enhancers	HSMM	muscle
41	chr6:142736800-142738800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:142736800-142739000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:142736800-142739000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:142736800-142739000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:142736800-142739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:142736800-142739200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:142736800-142739200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:142736800-142743200	Strong transcription	Placenta	Placenta
49	chr6:142737000-142737600	Enhancers	Primary T cells from cord blood	blood
50	chr6:142737000-142738000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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