Variant report

Variant	rs2613203
Chromosome Location	chr8:95253197-95253198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2607070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607073	0.92[EUR][1000 genomes]
rs2607075	0.88[EUR][1000 genomes]
rs2613205	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930870	0.94[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95246000-95253200	Weak transcription	Fetal Brain Male	brain
2	chr8:95246800-95254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:95247000-95254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:95247200-95253600	Weak transcription	Left Ventricle	heart
5	chr8:95247200-95253600	Weak transcription	Right Atrium	heart
6	chr8:95247200-95262400	Weak transcription	Gastric	stomach
7	chr8:95247600-95253200	Weak transcription	HMEC	breast
8	chr8:95247800-95253200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:95247800-95256800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:95248200-95262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:95250400-95259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:95251400-95254000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:95251800-95253200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:95251800-95262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:95252000-95255600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:95252200-95253200	Enhancers	Fetal Thymus	thymus
17	chr8:95252200-95253200	Enhancers	A549	lung
18	chr8:95252200-95253600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:95252200-95253600	Enhancers	Fetal Heart	heart
20	chr8:95252200-95254400	Enhancers	Fetal Muscle Leg	muscle
21	chr8:95252200-95254800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:95252200-95254800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:95252200-95254800	Enhancers	Colon Smooth Muscle	Colon
24	chr8:95252200-95255200	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:95252200-95255400	Enhancers	Fetal Intestine Small	intestine
26	chr8:95252400-95253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:95252400-95253400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:95252400-95254000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:95252400-95254200	Enhancers	NHLF	lung
30	chr8:95252400-95254600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:95252400-95255200	Enhancers	Stomach Mucosa	stomach
32	chr8:95252400-95255400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:95252600-95253200	Enhancers	Colonic Mucosa	Colon
34	chr8:95252600-95254400	Enhancers	Small Intestine	intestine
35	chr8:95252600-95254400	Enhancers	Stomach Smooth Muscle	stomach
36	chr8:95252600-95255200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:95252800-95254000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:95252800-95254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:95252800-95261000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:95252800-95262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:95252800-95262400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:95252800-95262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:95253000-95254000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:95253000-95254200	Enhancers	NHDF-Ad	bronchial
46	chr8:95253000-95255200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:95253000-95255200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr8:95253000-95255400	Enhancers	Fetal Intestine Large	intestine
49	chr8:95253000-95255400	Enhancers	HUVEC	blood vessel

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