Variant report

Variant	rs12682565
Chromosome Location	chr8:10626280-10626281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10620237..10621942-chr8:10624836..10626716,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10091836	0.87[ASN][1000 genomes]
rs10092781	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs10094907	0.85[CHB][hapmap]
rs10095737	0.86[ASN][1000 genomes]
rs10097531	0.84[CHB][hapmap]
rs10099021	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs10099137	0.81[CHB][hapmap]
rs10099907	0.87[ASN][1000 genomes]
rs10107180	0.82[ASN][1000 genomes]
rs10107303	0.81[ASN][1000 genomes]
rs10109034	0.84[CHB][hapmap]
rs10113332	0.84[CHB][hapmap]
rs10113343	0.84[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs11250069	0.86[ASN][1000 genomes]
rs11250070	0.85[ASN][1000 genomes]
rs11250071	0.84[ASN][1000 genomes]
rs12056936	0.83[ASN][1000 genomes]
rs12550169	0.85[CHB][hapmap]
rs12679010	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12679155	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12679178	0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12680846	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12681175	0.82[ASN][1000 genomes]
rs12681375	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1430867	0.86[ASN][1000 genomes]
rs17152302	0.85[ASN][1000 genomes]
rs17152305	0.86[ASN][1000 genomes]
rs1821001	0.85[ASN][1000 genomes]
rs2005311	0.85[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs2033369	0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs2116092	0.84[ASN][1000 genomes]
rs2116096	0.86[ASN][1000 genomes]
rs2280047	0.88[ASN][1000 genomes]
rs28592638	0.80[ASN][1000 genomes]
rs6601520	0.89[ASN][1000 genomes]
rs6601524	0.89[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6601525	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs6981530	0.86[ASN][1000 genomes]
rs6985218	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs6989072	0.89[ASN][1000 genomes]
rs6994595	0.90[ASN][1000 genomes]
rs7002137	0.86[ASN][1000 genomes]
rs7010926	0.87[ASN][1000 genomes]
rs7014168	0.86[ASN][1000 genomes]
rs7014285	0.86[ASN][1000 genomes]
rs7015129	0.85[ASN][1000 genomes]
rs733395	0.88[ASN][1000 genomes]
rs733396	0.88[ASN][1000 genomes]
rs73542560	0.85[ASN][1000 genomes]
rs73544343	0.89[ASN][1000 genomes]
rs736668	0.88[ASN][1000 genomes]
rs736669	0.88[ASN][1000 genomes]
rs7823088	0.86[ASN][1000 genomes]
rs7826180	0.89[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7826189	0.84[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs7826218	0.87[ASN][1000 genomes]
rs7826392	0.88[ASN][1000 genomes]
rs7826458	0.80[CHB][hapmap]
rs7830528	0.86[ASN][1000 genomes]
rs7836194	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7838341	0.81[CHB][hapmap]
rs891554	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs891555	0.82[ASN][1000 genomes]
rs891556	0.82[ASN][1000 genomes]
rs919555	0.86[ASN][1000 genomes]
rs9644730	0.85[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
4	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
20	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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
21	nsv1026230	chr8:10618928-10652924	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv539472	chr8:10618928-10652924	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10614400-10634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:10618000-10634400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:10618600-10628600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:10618600-10634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:10618800-10634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10618800-10634400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:10618800-10636400	Weak transcription	Psoas Muscle	Psoas
9	chr8:10618800-10646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
11	chr8:10619000-10636400	Weak transcription	HSMM	muscle
12	chr8:10619200-10628200	Weak transcription	K562	blood
13	chr8:10619200-10634200	Weak transcription	Ovary	ovary
14	chr8:10619200-10634400	Weak transcription	HSMMtube	muscle
15	chr8:10619200-10635800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:10619200-10644800	Weak transcription	Small Intestine	intestine
17	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:10619800-10629000	Weak transcription	GM12878-XiMat	blood
20	chr8:10620000-10629800	Strong transcription	Primary T cells from cord blood	blood
21	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:10620200-10645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:10620400-10634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:10620600-10630800	Weak transcription	HUVEC	blood vessel
25	chr8:10621200-10634400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:10621400-10634400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:10621400-10656000	Weak transcription	HepG2	liver
29	chr8:10621600-10627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:10621600-10634000	Weak transcription	NHEK	skin
31	chr8:10622000-10639000	Weak transcription	HMEC	breast
32	chr8:10622400-10634000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:10622600-10628600	Weak transcription	Primary B cells from cord blood	blood
34	chr8:10622800-10626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:10622800-10634200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:10622800-10634200	Weak transcription	Brain Substantia Nigra	brain
37	chr8:10622800-10641000	Weak transcription	Hela-S3	cervix
38	chr8:10622800-10656000	Weak transcription	A549	lung
39	chr8:10623000-10634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:10623000-10634200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:10623200-10634200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:10623200-10634200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:10623200-10634200	Weak transcription	Placenta	Placenta
44	chr8:10623200-10634600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:10623200-10650000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:10623400-10627000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:10623400-10627000	Weak transcription	Dnd41	blood
48	chr8:10623400-10630800	Weak transcription	Left Ventricle	heart
49	chr8:10623400-10633200	Weak transcription	Liver	Liver
50	chr8:10623400-10633200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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