Variant report

Variant	rs6952056
Chromosome Location	chr7:139542268-139542269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139539840..139543405-chr7:139545009..139547964,3	K562	blood:
2	chr7:139532720..139535197-chr7:139540862..139542480,2	K562	blood:
3	chr7:139541194..139543649-chr7:139594148..139596879,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10237429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10253277	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs10256282	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs10257313	1.00[CHB][hapmap]
rs10277705	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1074977	1.00[CHB][hapmap]
rs12534299	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.92[ASN][1000 genomes]
rs194152	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1990354	1.00[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.85[ASN][1000 genomes]
rs2079845	1.00[CHB][hapmap]
rs2107900	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267679	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.92[ASN][1000 genomes]
rs2267680	0.80[ASW][hapmap]
rs2267682	0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs2361644	1.00[CHB][hapmap]
rs4311593	1.00[CHB][hapmap]
rs4590360	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.92[ASN][1000 genomes]
rs4725857	0.92[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4726776	1.00[CHB][hapmap]
rs4726815	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4726838	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4727013	0.87[ASN][1000 genomes]
rs56147462	0.92[ASN][1000 genomes]
rs6464800	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6946849	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949027	1.00[CHB][hapmap]
rs6951759	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[ASN][1000 genomes]
rs6952322	0.85[ASN][1000 genomes]
rs6958644	1.00[CHB][hapmap]
rs6974960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980375	0.85[ASN][1000 genomes]
rs764745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs764746	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.92[ASN][1000 genomes]
rs7796073	0.89[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7810415	0.85[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6952056	KEL	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531400-139544600	Weak transcription	Gastric	stomach
2	chr7:139531400-139553800	Weak transcription	Primary T cells from cord blood	blood
3	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:139531600-139542400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:139540600-139545000	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:139540800-139544400	Weak transcription	Pancreas	Pancrea
7	chr7:139540800-139544800	Weak transcription	Esophagus	oesophagus
8	chr7:139541000-139555200	Weak transcription	Thymus	Thymus
9	chr7:139541200-139542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:139541200-139543000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:139541400-139543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:139541600-139542400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
13	chr7:139541600-139543000	Enhancers	Fetal Kidney	kidney
14	chr7:139541800-139542400	Active TSS	Adipose Nuclei	Adipose
15	chr7:139541800-139542800	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:139541800-139542800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:139541800-139543000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:139541800-139543000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:139542000-139542400	Enhancers	Fetal Lung	lung
20	chr7:139542000-139542400	Active TSS	Ovary	ovary
21	chr7:139542000-139542400	Active TSS	Right Atrium	heart
22	chr7:139542000-139542400	Enhancers	HepG2	liver
23	chr7:139542000-139542600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:139542000-139542600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr7:139542000-139542600	Enhancers	Placenta	Placenta
26	chr7:139542000-139542600	Enhancers	Hela-S3	cervix
27	chr7:139542000-139543200	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:139542000-139543200	Enhancers	Fetal Thymus	thymus
29	chr7:139542200-139542400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:139542200-139542400	Enhancers	Brain Anterior Caudate	brain
31	chr7:139542200-139542400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr7:139542200-139542600	Enhancers	Fetal Muscle Leg	muscle
33	chr7:139542200-139542800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr7:139542200-139542800	Enhancers	NHLF	lung
35	chr7:139542200-139543000	Enhancers	Spleen	Spleen
36	chr7:139542200-139543000	Flanking Active TSS	GM12878-XiMat	blood
37	chr7:139542200-139543000	Enhancers	K562	blood
38	chr7:139542200-139543200	Enhancers	Lung	lung

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