Variant report

Variant	rs12681932
Chromosome Location	chr8:10007075-10007076
allele	C/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]
rs10092068	1.00[YRI][hapmap]
rs10105177	1.00[YRI][hapmap]
rs10283052	1.00[YRI][hapmap]
rs12547440	1.00[YRI][hapmap]
rs12677675	1.00[CEU][hapmap]
rs13439670	1.00[YRI][hapmap]
rs4841288	0.81[CHB][hapmap]
rs73530954	0.81[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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3341433	chr8:10007056-10007342	Weak transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9996400-10020200	Weak transcription	Pancreas	Pancrea
2	chr8:9996600-10036200	Weak transcription	Primary T cells from cord blood	blood
3	chr8:9996800-10009600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:9997000-10010200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:10002400-10007400	Weak transcription	Brain Substantia Nigra	brain
6	chr8:10002400-10007600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:10002400-10009400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:10002600-10007400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:10002600-10009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:10002800-10007400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:10002800-10007600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:10002800-10007600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:10002800-10007600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10002800-10007600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:10002800-10007600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:10002800-10007800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:10003000-10007400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10003000-10007400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:10003000-10007600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:10003400-10026600	Weak transcription	Liver	Liver
21	chr8:10003800-10007400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:10004400-10007600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:10005000-10007400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:10005000-10007800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:10005000-10008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:10005400-10007400	Weak transcription	Brain Germinal Matrix	brain
27	chr8:10005400-10008200	Weak transcription	Left Ventricle	heart
28	chr8:10005400-10010200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10005600-10007600	Weak transcription	Fetal Brain Female	brain
30	chr8:10005600-10008200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:10005600-10008400	Weak transcription	Spleen	Spleen
32	chr8:10005600-10008600	Weak transcription	Right Ventricle	heart
33	chr8:10005600-10009400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:10005600-10010200	Weak transcription	Right Atrium	heart
35	chr8:10005800-10007400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:10006000-10008200	Weak transcription	Lung	lung
37	chr8:10006200-10008600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:10007000-10007400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:10007000-10008800	Enhancers	Fetal Brain Male	brain

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