Variant report

Variant	rs17077633
Chromosome Location	chr8:6451784-6451785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17077609	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap]
rs2294142	1.00[AFR][1000 genomes]
rs2922848	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2922849	1.00[AFR][1000 genomes]
rs2922854	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2959787	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2980676	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs3020248	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
3	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:6432200-6453800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:6432400-6457600	Weak transcription	Gastric	stomach
6	chr8:6435600-6453400	Weak transcription	Dnd41	blood
7	chr8:6436600-6452800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:6441800-6452200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:6442400-6452800	Weak transcription	Thymus	Thymus
10	chr8:6442600-6479000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:6443400-6452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:6443400-6456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:6449200-6453200	Weak transcription	Fetal Thymus	thymus
14	chr8:6450200-6452400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:6450200-6478400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:6450400-6454600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:6450800-6451800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:6450800-6452000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:6450800-6452400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:6450800-6452800	Enhancers	Psoas Muscle	Psoas
21	chr8:6450800-6453000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:6450800-6453200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:6450800-6453600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:6450800-6456400	Enhancers	Left Ventricle	heart
25	chr8:6451000-6451800	Enhancers	Brain Anterior Caudate	brain
26	chr8:6451000-6452200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:6451000-6452400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:6451000-6452400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:6451000-6452400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:6451000-6452600	Enhancers	HMEC	breast
31	chr8:6451000-6452800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:6451000-6453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:6451000-6453000	Enhancers	Fetal Heart	heart
34	chr8:6451000-6453000	Enhancers	HSMMtube	muscle
35	chr8:6451000-6453800	Enhancers	Right Ventricle	heart
36	chr8:6451000-6453800	Enhancers	NHDF-Ad	bronchial
37	chr8:6451000-6454000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:6451200-6451800	Enhancers	Brain Hippocampus Middle	brain
39	chr8:6451200-6452000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:6451200-6452200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:6451200-6452400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:6451200-6452400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:6451200-6452800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:6451200-6453000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:6451200-6453000	Flanking Active TSS	HepG2	liver
46	chr8:6451200-6453800	Enhancers	Adipose Nuclei	Adipose
47	chr8:6451400-6451800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:6451400-6451800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:6451400-6451800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:6451400-6452000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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