Variant report

Variant	rs6952186
Chromosome Location	chr7:102479081-102479082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10487279	0.93[ASN][1000 genomes]
rs10487283	0.86[AFR][1000 genomes]
rs11970869	0.86[AFR][1000 genomes]
rs11972019	0.86[AFR][1000 genomes]
rs11972644	0.87[AFR][1000 genomes]
rs11973870	0.87[AFR][1000 genomes]
rs11978670	0.86[AFR][1000 genomes]
rs11978768	0.86[AFR][1000 genomes]
rs11982617	0.82[ASN][1000 genomes]
rs11983456	0.89[AFR][1000 genomes]
rs11983521	0.87[AFR][1000 genomes]
rs12530741	0.83[ASN][1000 genomes]
rs12538955	0.86[AFR][1000 genomes]
rs12540384	0.87[AFR][1000 genomes]
rs12666764	0.89[AFR][1000 genomes]
rs12667218	0.87[AFR][1000 genomes]
rs12669668	0.86[AFR][1000 genomes]
rs17136137	0.86[AFR][1000 genomes]
rs4357217	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4400322	0.83[ASN][1000 genomes]
rs56894117	0.81[AFR][1000 genomes]
rs56921864	0.87[AFR][1000 genomes]
rs57350619	0.80[AFR][1000 genomes]
rs57545514	0.87[AFR][1000 genomes]
rs57776797	0.88[AFR][1000 genomes]
rs58191643	0.87[AFR][1000 genomes]
rs58814323	0.88[AFR][1000 genomes]
rs58919995	0.86[AFR][1000 genomes]
rs59278165	0.87[AFR][1000 genomes]
rs60524601	0.81[AFR][1000 genomes]
rs60599650	0.80[AFR][1000 genomes]
rs61404409	0.87[ASN][1000 genomes]
rs6465877	0.86[AFR][1000 genomes]
rs6465879	0.86[AFR][1000 genomes]
rs6942855	0.85[AFR][1000 genomes]
rs6945369	0.81[AFR][1000 genomes]
rs6946773	0.86[AFR][1000 genomes]
rs6949150	0.83[AFR][1000 genomes]
rs6951288	0.91[AFR][1000 genomes]
rs6967389	0.89[AFR][1000 genomes]
rs6973081	0.92[ASN][1000 genomes]
rs6975451	0.86[AFR][1000 genomes]
rs6976005	0.86[AFR][1000 genomes]
rs6977145	0.86[AFR][1000 genomes]
rs73406250	0.84[AFR][1000 genomes]
rs73406284	0.87[AFR][1000 genomes]
rs7779121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7796335	0.85[AFR][1000 genomes]
rs9690210	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv608059	chr7:102470455-102504773	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102452000-102480000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:102459800-102481800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:102460400-102480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:102460800-102480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:102468000-102484600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:102468200-102481000	Weak transcription	Brain Germinal Matrix	brain
8	chr7:102470000-102490200	Weak transcription	Gastric	stomach
9	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
10	chr7:102470200-102481800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:102470400-102479800	Weak transcription	Lung	lung
12	chr7:102470400-102480400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:102470400-102481600	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:102470400-102482800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:102470600-102481800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:102470800-102484400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:102470800-102493200	Weak transcription	Primary T cells from cord blood	blood
18	chr7:102471600-102480200	Weak transcription	Liver	Liver
19	chr7:102471800-102500000	Weak transcription	Left Ventricle	heart
20	chr7:102472000-102484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:102476000-102480800	Weak transcription	GM12878-XiMat	blood
22	chr7:102476400-102479200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:102476600-102479200	Enhancers	Fetal Lung	lung
24	chr7:102477000-102479200	Weak transcription	Fetal Brain Male	brain
25	chr7:102477400-102482400	Weak transcription	Stomach Mucosa	stomach
26	chr7:102477800-102480400	Weak transcription	A549	lung
27	chr7:102477800-102481800	Weak transcription	Hela-S3	cervix
28	chr7:102477800-102482200	Weak transcription	Psoas Muscle	Psoas
29	chr7:102477800-102500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:102478000-102480800	Weak transcription	HSMM	muscle
31	chr7:102478000-102481000	Enhancers	HepG2	liver
32	chr7:102478000-102489200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:102478200-102480800	Weak transcription	HSMMtube	muscle
34	chr7:102478200-102481800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:102478200-102481800	Weak transcription	Fetal Stomach	stomach
36	chr7:102478200-102500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:102478200-102500000	Weak transcription	Ovary	ovary
38	chr7:102478400-102479400	Enhancers	Fetal Intestine Small	intestine
39	chr7:102478600-102480800	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:102478600-102482000	Weak transcription	NHDF-Ad	bronchial
41	chr7:102478800-102481800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:102478800-102482200	Weak transcription	K562	blood
43	chr7:102478800-102482800	Weak transcription	Fetal Intestine Large	intestine
44	chr7:102478800-102489600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:102478800-102492600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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