Variant report

Variant	rs6915391
Chromosome Location	chr6:147172820-147172821
allele	C/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	FOS	chr6:147172753-147173319	HUVEC	blood vessel:	n/a	n/a
2	MAFK	chr6:147172773-147173340	IMR90	lung:	n/a	chr6:147173067-147173083
3	TCF12	chr6:147172820-147173553	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr6:147172671-147173373	IMR90	lung:	n/a	n/a
5	GATA3	chr6:147172819-147173565	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
STXBP5-AS1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1119876	0.92[JPT][hapmap]
rs1324680	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324685	0.91[JPT][hapmap]
rs1408574	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1408575	0.82[JPT][hapmap]
rs1924691	0.91[JPT][hapmap]
rs1924692	0.84[JPT][hapmap]
rs1924695	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328769	0.91[JPT][hapmap]
rs2328770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259370	0.80[CEU][hapmap]
rs259371	0.88[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs259385	0.80[CEU][hapmap]
rs477801	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896892	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926089	0.93[EUR][1000 genomes]
rs6929209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937015	0.84[ASN][1000 genomes]
rs7744139	0.81[EUR][1000 genomes]
rs7755795	0.91[JPT][hapmap]
rs9322079	0.84[CEU][hapmap]
rs9377032	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9390437	0.91[JPT][hapmap]
rs9399587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399588	0.89[ASN][1000 genomes]
rs9403826	0.90[JPT][hapmap]
rs9497645	0.94[YRI][hapmap]
rs9497647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr6:147163200-147178800	Weak transcription	Right Atrium	heart
2	chr6:147163400-147178800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:147171200-147173800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:147171400-147173400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:147171400-147173600	Enhancers	NH-A	brain
6	chr6:147171400-147173600	Enhancers	NHDF-Ad	bronchial
7	chr6:147171600-147173800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:147171800-147173800	Enhancers	NHEK	skin
9	chr6:147172000-147173000	Weak transcription	K562	blood
10	chr6:147172000-147173200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:147172000-147178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:147172200-147173800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:147172200-147178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:147172400-147173800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:147172400-147176800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:147172600-147173400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:147172600-147173400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:147172600-147173400	Enhancers	Osteobl	bone
19	chr6:147172600-147173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:147172800-147173600	Enhancers	HMEC	breast
21	chr6:147172800-147173600	Enhancers	HSMM	muscle
22	chr6:147172800-147173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:147172800-147178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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