Variant report

Variant	rs12627065
Chromosome Location	chr21:46586986-46586987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46586865-46587034	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr21:46586803-46587040	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46586605..46588915-chr21:46675140..46677229,2	K562	blood:
2	chr21:46574123..46577749-chr21:46583837..46588993,5	K562	blood:
3	chr21:46582653..46585265-chr21:46586911..46589357,3	MCF-7	breast:
4	chr21:46451994..46454639-chr21:46586058..46587723,2	K562	blood:

Variant related genes	Relation type
ADARB1	TF binding region

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

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10222166	1.00[JPT][hapmap]
rs11911460	0.94[ASN][1000 genomes]
rs12482954	0.90[JPT][hapmap]
rs12483020	0.89[JPT][hapmap]
rs12483279	0.89[JPT][hapmap]
rs12483288	0.94[ASN][1000 genomes]
rs12483312	0.86[AFR][1000 genomes]
rs12627151	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433524	1.00[ASN][1000 genomes]
rs1556316	0.90[JPT][hapmap]
rs1556318	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1556319	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17004734	0.89[JPT][hapmap]
rs17004739	0.89[JPT][hapmap]
rs17004743	1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17004748	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838774	0.89[JPT][hapmap]
rs2838786	0.90[JPT][hapmap]
rs2838789	0.89[JPT][hapmap]
rs2838792	1.00[JPT][hapmap]
rs2838801	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838802	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838809	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838812	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838814	0.94[ASN][1000 genomes]
rs2838816	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838835	1.00[CHB][hapmap]
rs2838846	1.00[CHB][hapmap]
rs2838851	1.00[CHB][hapmap]
rs3178603	0.90[JPT][hapmap]
rs367228	0.90[JPT][hapmap]
rs372173	0.82[JPT][hapmap]
rs372549	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3746976	1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3788155	0.90[JPT][hapmap]
rs3788156	0.89[JPT][hapmap]
rs3788163	0.89[JPT][hapmap]
rs3788164	0.89[JPT][hapmap]
rs3788169	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3788170	0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3788171	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3788181	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386528	0.82[JPT][hapmap]
rs398023	1.00[ASN][1000 genomes]
rs421643	0.82[JPT][hapmap]
rs423726	0.82[JPT][hapmap]
rs431666	0.82[JPT][hapmap]
rs431775	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs6518215	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6518216	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6518217	0.94[ASN][1000 genomes]
rs6518218	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs66664884	0.94[ASN][1000 genomes]
rs66837495	0.94[ASN][1000 genomes]
rs7277143	1.00[JPT][hapmap]
rs7279808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7283317	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs731248	0.90[JPT][hapmap]
rs8127577	1.00[CEU][hapmap]
rs8129624	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129934	0.90[JPT][hapmap]
rs8130097	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8130862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8132646	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8132752	0.90[JPT][hapmap]
rs8134382	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8134889	0.90[JPT][hapmap];0.86[AFR][1000 genomes]
rs870145	0.89[JPT][hapmap];0.83[AFR][1000 genomes]
rs870351	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs9653788	1.00[ASN][1000 genomes]
rs9978240	1.00[ASN][1000 genomes]
rs9978543	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1802303	chr21:46580319-46606676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
3	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
4	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
5	chr21:46569000-46587000	Weak transcription	NHEK	skin
6	chr21:46572200-46595600	Weak transcription	Brain Germinal Matrix	brain
7	chr21:46572400-46601000	Weak transcription	Fetal Brain Female	brain
8	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr21:46573000-46588400	Weak transcription	Thymus	Thymus
10	chr21:46573600-46591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:46574200-46589200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:46575000-46587000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:46575000-46595600	Weak transcription	Dnd41	blood
14	chr21:46575000-46601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr21:46575200-46587000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:46575400-46587800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:46575400-46588800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:46575400-46588800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr21:46575400-46589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:46575400-46604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr21:46575600-46588800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:46576200-46588800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:46576200-46595800	Weak transcription	Fetal Lung	lung
24	chr21:46578800-46588800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:46580400-46591800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr21:46580400-46595600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:46582000-46590200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:46582400-46587800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:46582400-46589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46582400-46589400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:46582400-46595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:46582400-46595600	Weak transcription	Gastric	stomach
33	chr21:46582600-46591000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:46582600-46598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:46582800-46587000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:46582800-46592000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:46583000-46588800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr21:46583000-46588800	Weak transcription	Hela-S3	cervix
39	chr21:46583400-46588400	Weak transcription	Primary T cells from cord blood	blood
40	chr21:46583400-46589000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr21:46583400-46589000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:46583400-46589000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr21:46583400-46589800	Enhancers	Colon Smooth Muscle	Colon
44	chr21:46583600-46587800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr21:46583600-46591000	Weak transcription	Primary B cells from cord blood	blood
46	chr21:46583800-46588800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr21:46583800-46589000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr21:46583800-46589000	Weak transcription	Esophagus	oesophagus
49	chr21:46583800-46592000	Weak transcription	Fetal Stomach	stomach
50	chr21:46583800-46596200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links