Variant report

Variant	rs494683
Chromosome Location	chr6:75307067-75307068
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	FOS	chr6:75307041-75307290	MCF10A-Er-Src	breast:	n/a	chr6:75307147-75307155 chr6:75307147-75307155 chr6:75307145-75307156 chr6:75307147-75307154
2	GATA2	chr6:75306773-75307577	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:75307004-75307505	HUVEC	blood vessel:	n/a	n/a
4	IKZF1	chr6:75306981-75307276	GM12878	blood:	n/a	n/a
5	RUNX3	chr6:75307033-75307331	GM12878	blood:	n/a	n/a
6	REST	chr6:75307010-75307355	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr6:75306789-75307616	PFSK-1	brain:	n/a	n/a
8	JUN	chr6:75307002-75307352	HUVEC	blood vessel:	n/a	chr6:75307147-75307155 chr6:75307147-75307155 chr6:75307147-75307154
9	REST	chr6:75307059-75307359	PFSK-1	brain:	n/a	n/a
10	NFIC	chr6:75306856-75307334	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:75306978-75307311	PFSK-1	brain:	n/a	n/a
12	RUNX3	chr6:75307019-75307344	GM12878	blood:	n/a	n/a
13	TAF1	chr6:75307012-75307415	PFSK-1	brain:	n/a	n/a
14	BATF	chr6:75307057-75307299	GM12878	blood:	n/a	chr6:75307143-75307154 chr6:75307144-75307154
15	FOS	chr6:75306858-75307352	HUVEC	blood vessel:	n/a	chr6:75307147-75307155 chr6:75307147-75307155 chr6:75307145-75307156 chr6:75307147-75307154

Variant related genes	Relation type
ENSG00000272243	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1041657	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167371	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1177511	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1856031	0.85[ASN][1000 genomes]
rs2485130	0.87[ASN][1000 genomes]
rs2485131	0.87[ASN][1000 genomes]
rs2781831	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2785684	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992983	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488669	0.85[ASN][1000 genomes]
rs490721	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs494670	0.85[ASN][1000 genomes]
rs549296	0.85[ASN][1000 genomes]
rs575176	0.85[ASN][1000 genomes]
rs575276	0.85[ASN][1000 genomes]
rs577037	0.80[ASN][1000 genomes]
rs693667	0.87[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	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830694	chr6:75245483-75446282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75306000-75307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:75306200-75307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:75306400-75307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:75306400-75307200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:75306400-75307400	Enhancers	NHDF-Ad	bronchial
6	chr6:75306400-75307600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:75306400-75308600	Enhancers	HUVEC	blood vessel
8	chr6:75306400-75309400	Enhancers	HMEC	breast
9	chr6:75306400-75309400	Enhancers	HSMM	muscle
10	chr6:75306400-75309600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:75306600-75307200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:75306600-75308200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:75306800-75307600	Flanking Active TSS	GM12878-XiMat	blood
14	chr6:75306800-75309000	Enhancers	Osteobl	bone
15	chr6:75306800-75309200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:75306800-75309200	Enhancers	NHEK	skin
17	chr6:75307000-75307400	Enhancers	A549	lung
18	chr6:75307000-75307600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:75307000-75308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:75307000-75308400	Weak transcription	NH-A	brain
21	chr6:75307000-75309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:75307000-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:75307000-75319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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