Variant report

Variant	rs6943538
Chromosome Location	chr7:137535454-137535455
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	POLR2A	chr7:137535332-137535945	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:137535373-137535489	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:137535235-137537970	K562	blood:	n/a	n/a
4	POLR2A	chr7:137535348-137535940	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:137535423-137535753	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:137535374-137537347	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
DGKI	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11769577	0.85[YRI][hapmap]
rs11975719	0.95[ASN][1000 genomes]
rs1564227	0.84[YRI][hapmap]
rs3735019	0.86[CHD][hapmap]
rs3735020	0.93[CHB][hapmap]
rs61640672	0.95[ASN][1000 genomes]
rs6467721	0.94[ASN][1000 genomes]
rs6958842	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs6959012	0.94[CHB][hapmap]
rs6976928	0.94[CHB][hapmap]
rs6977828	0.84[ASN][1000 genomes]
rs881505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137532200-137556400	Weak transcription	Esophagus	oesophagus
2	chr7:137532400-137536000	Weak transcription	HSMM	muscle
3	chr7:137532400-137536600	Weak transcription	Right Atrium	heart
4	chr7:137532400-137545400	Weak transcription	Aorta	Aorta
5	chr7:137532400-137546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:137532400-137549800	Weak transcription	A549	lung
7	chr7:137532400-137552200	Weak transcription	Pancreas	Pancrea
8	chr7:137532600-137536200	Weak transcription	HSMMtube	muscle
9	chr7:137532600-137536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:137532600-137547200	Weak transcription	Ovary	ovary
11	chr7:137532800-137544200	Weak transcription	HepG2	liver
12	chr7:137532800-137546400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:137532800-137546600	Weak transcription	Adipose Nuclei	Adipose
14	chr7:137533200-137536200	Weak transcription	Placenta	Placenta
15	chr7:137533600-137536800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:137533800-137545400	Weak transcription	HUVEC	blood vessel
17	chr7:137533800-137549400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:137533800-137551600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:137534000-137545600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:137534200-137536800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:137534200-137563000	Weak transcription	HMEC	breast
23	chr7:137534400-137535800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:137534600-137545400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:137534800-137536200	Enhancers	NH-A	brain
26	chr7:137534800-137536400	Enhancers	Osteobl	bone
27	chr7:137534800-137536800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:137534800-137537000	Enhancers	NHDF-Ad	bronchial
29	chr7:137534800-137547800	Weak transcription	Left Ventricle	heart
30	chr7:137535000-137537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:137535000-137552000	Weak transcription	Psoas Muscle	Psoas
32	chr7:137535200-137538000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:137535200-137562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:137535400-137535600	Enhancers	NHLF	lung
35	chr7:137535400-137536000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:137535400-137536200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:137535400-137536200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:137535400-137536400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:137535400-137536600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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