Variant report

Variant	rs28436694
Chromosome Location	chr8:6483813-6483814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10104281	1.00[AMR][1000 genomes]
rs13439792	1.00[AMR][1000 genomes]
rs28395301	1.00[AMR][1000 genomes]
rs28485257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28519374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28557038	1.00[AMR][1000 genomes]
rs28558073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60438188	1.00[AMR][1000 genomes]
rs6987288	1.00[AMR][1000 genomes]
rs73520843	1.00[AMR][1000 genomes]
rs73522976	1.00[AMR][1000 genomes]
rs73522977	1.00[AMR][1000 genomes]
rs7835043	1.00[AMR][1000 genomes]
rs7835624	1.00[AMR][1000 genomes]
rs9314605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
12	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	15 gene(s)	inside rSNPs	diseases
13	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6458000-6498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:6472400-6486200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:6474200-6486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:6474200-6505200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:6474600-6488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:6474800-6498400	Weak transcription	HSMM	muscle
7	chr8:6476200-6484400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:6476400-6499000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:6476400-6502800	Weak transcription	Colonic Mucosa	Colon
10	chr8:6477600-6485400	Strong transcription	Dnd41	blood
11	chr8:6478000-6487400	Weak transcription	Small Intestine	intestine
12	chr8:6478200-6484800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:6478200-6494600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:6478400-6484000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:6478400-6498400	Weak transcription	HMEC	breast
16	chr8:6478800-6484200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:6479000-6484000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:6479000-6485000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:6479000-6485200	Strong transcription	Fetal Intestine Small	intestine
20	chr8:6479600-6499800	Weak transcription	Aorta	Aorta
21	chr8:6479800-6484000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:6479800-6484200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:6480000-6484600	Weak transcription	Right Ventricle	heart
24	chr8:6480000-6484800	Weak transcription	Brain Germinal Matrix	brain
25	chr8:6480000-6485000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:6480000-6485200	Strong transcription	Thymus	Thymus
27	chr8:6480000-6486200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:6480000-6502000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:6480200-6486800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:6480200-6489400	Weak transcription	Brain Substantia Nigra	brain
31	chr8:6480200-6501800	Weak transcription	NHEK	skin
32	chr8:6480200-6502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:6480200-6502600	Weak transcription	Gastric	stomach
34	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
35	chr8:6480400-6491400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:6480400-6498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:6480400-6499600	Weak transcription	Brain Anterior Caudate	brain
38	chr8:6480400-6499800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:6480400-6499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:6480400-6499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:6480400-6502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:6480400-6505400	Weak transcription	Lung	lung
43	chr8:6480600-6484400	Strong transcription	Spleen	Spleen
44	chr8:6480800-6499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:6481000-6485200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:6481600-6484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:6481800-6485400	Strong transcription	Fetal Stomach	stomach
48	chr8:6481800-6501800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:6482000-6485200	Strong transcription	Fetal Thymus	thymus
50	chr8:6482000-6486200	Weak transcription	Primary B cells from cord blood	blood

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