Variant report

Variant	rs7004030
Chromosome Location	chr8:120735792-120735793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120728056..120731650-chr8:120733855..120737131,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11786983	0.82[CHB][hapmap]
rs17217893	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871420	0.82[CHB][hapmap]
rs4871530	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871569	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469855	1.00[JPT][hapmap]
rs6989212	0.82[CHB][hapmap]
rs7837894	0.82[CHB][hapmap]
rs7843326	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120722200-120741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
6	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:120731400-120742800	Weak transcription	Osteobl	bone
9	chr8:120731800-120738000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:120731800-120741600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:120731800-120743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:120733400-120735800	Enhancers	Fetal Intestine Small	intestine
13	chr8:120733400-120736200	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:120733800-120741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
16	chr8:120734200-120743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:120734200-120743800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:120734400-120739000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:120734400-120741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:120734400-120743400	Weak transcription	Left Ventricle	heart
21	chr8:120734400-120743600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:120734400-120743600	Weak transcription	Hela-S3	cervix
23	chr8:120734400-120744000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:120734600-120742000	Weak transcription	HSMM	muscle
25	chr8:120734600-120743600	Weak transcription	Fetal Lung	lung
26	chr8:120734600-120743800	Weak transcription	Ovary	ovary
27	chr8:120734600-120747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:120734600-120779600	Weak transcription	Gastric	stomach
29	chr8:120734800-120736600	Enhancers	Brain Substantia Nigra	brain
30	chr8:120734800-120739800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:120734800-120742600	Weak transcription	Liver	Liver
32	chr8:120734800-120743600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:120735000-120753800	Weak transcription	NHDF-Ad	bronchial
34	chr8:120735200-120743600	Weak transcription	HepG2	liver
35	chr8:120735200-120743600	Weak transcription	HUVEC	blood vessel
36	chr8:120735200-120754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:120735200-120756400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:120735400-120742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:120735400-120743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:120735400-120743400	Weak transcription	Fetal Intestine Large	intestine
41	chr8:120735400-120743600	Weak transcription	Adipose Nuclei	Adipose
42	chr8:120735600-120736600	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:120735600-120742800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:120735600-120743600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:120735600-120744000	Weak transcription	Small Intestine	intestine
46	chr8:120735600-120748200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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