Variant report

Variant	rs7007970
Chromosome Location	chr8:120647929-120647930
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10108101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955934	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778296	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11785712	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16892900	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892938	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16893214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17215053	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17818097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1865292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060377	0.80[ASN][1000 genomes]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2117217	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34872621	0.86[ASN][1000 genomes]
rs56224112	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6469845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7013772	0.80[ASN][1000 genomes]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7821416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837894	1.00[JPT][hapmap]
rs9297606	1.00[JPT][hapmap]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	21998595	GWAS catalog

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
2	chr8:120627800-120649200	Weak transcription	NHLF	lung
3	chr8:120634800-120650000	Weak transcription	Primary T cells from cord blood	blood
4	chr8:120635400-120649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:120635400-120649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:120635800-120648600	Weak transcription	Osteobl	bone
7	chr8:120644600-120649400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:120645200-120650600	Enhancers	Brain Hippocampus Middle	brain
9	chr8:120645600-120649600	Weak transcription	Thymus	Thymus
10	chr8:120645800-120649400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:120645800-120650400	Weak transcription	GM12878-XiMat	blood
12	chr8:120646200-120649200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:120646600-120650600	Weak transcription	Psoas Muscle	Psoas
14	chr8:120647200-120648400	Enhancers	Liver	Liver
15	chr8:120647200-120648400	Enhancers	Brain Anterior Caudate	brain
16	chr8:120647200-120648600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:120647200-120648800	Enhancers	HepG2	liver
18	chr8:120647200-120649600	Active TSS	Duodenum Mucosa	Duodenum
19	chr8:120647200-120650000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:120647200-120650200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:120647200-120650600	Enhancers	Brain Substantia Nigra	brain
22	chr8:120647200-120650600	Enhancers	Fetal Thymus	thymus
23	chr8:120647200-120650800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:120647200-120651800	Active TSS	Placenta	Placenta
25	chr8:120647400-120648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:120647400-120650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:120647600-120648600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
28	chr8:120647600-120650000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:120647600-120651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:120647800-120648000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:120647800-120648000	Enhancers	Fetal Lung	lung
32	chr8:120647800-120648200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:120647800-120649000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:120647800-120650000	Active TSS	Adipose Nuclei	Adipose
35	chr8:120647800-120652400	Active TSS	Pancreatic Islets	Pancreatic Islet

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