Variant report

Variant	rs12680389
Chromosome Location	chr8:9956857-9956858
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10107485	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11249969	0.86[JPT][hapmap]
rs11249970	0.90[JPT][hapmap]
rs1160369	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs11774411	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs11783851	0.91[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11785434	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11990610	0.83[CHB][hapmap]
rs11990614	0.83[CHB][hapmap]
rs12542030	0.87[JPT][hapmap]
rs12545469	0.87[CHB][hapmap]
rs12545775	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12545788	0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs12545826	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12547884	0.83[CHB][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs12549943	0.96[CHB][hapmap];0.81[ASN][1000 genomes]
rs12550244	0.86[CHB][hapmap]
rs12674871	0.86[CHB][hapmap]
rs12679328	0.86[JPT][hapmap]
rs13249013	0.82[JPT][hapmap]
rs13250499	0.82[JPT][hapmap]
rs13256357	0.95[CHB][hapmap]
rs13261836	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1466555	1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1484645	0.87[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1564808	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs17151142	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs17151190	0.87[CHB][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs17151201	0.83[CHB][hapmap]
rs17155393	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1984863	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs2016221	0.81[ASN][1000 genomes]
rs2409632	0.87[JPT][hapmap]
rs2898242	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs3735823	0.86[JPT][hapmap]
rs4294187	0.86[CHB][hapmap]
rs4840462	0.87[JPT][hapmap]
rs4840463	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs4841279	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4841280	0.82[ASN][1000 genomes]
rs4841283	0.91[CHB][hapmap]
rs625218	0.81[JPT][hapmap]
rs66602888	0.82[ASN][1000 genomes]
rs6981546	0.81[JPT][hapmap]
rs6983566	0.86[JPT][hapmap]
rs6985791	0.81[CHB][hapmap]
rs6997865	0.87[JPT][hapmap]
rs7008407	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7012601	0.81[ASN][1000 genomes]
rs7016690	0.81[ASN][1000 genomes]
rs7830843	0.86[ASN][1000 genomes]
rs7832431	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9329215	0.87[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9952000-9959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9955000-9957400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:9955200-9957000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:9956000-9957200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:9956400-9957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:9956400-9957600	Active TSS	Brain Germinal Matrix	brain
7	chr8:9956400-9958000	Enhancers	Brain Anterior Caudate	brain
8	chr8:9956400-9958200	Enhancers	Fetal Brain Male	brain
9	chr8:9956600-9957000	Enhancers	Brain Angular Gyrus	brain
10	chr8:9956600-9962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:9956800-9957000	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr8:9956800-9957000	Flanking Active TSS	Fetal Brain Female	brain
13	chr8:9956800-9957800	Enhancers	Brain Hippocampus Middle	brain
14	chr8:9956800-9957800	Enhancers	Brain Substantia Nigra	brain

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