Variant report

Variant	rs10844657
Chromosome Location	chr12:9893213-9893214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9888502..9890048-chr12:9893130..9895750,2	K562	blood:
2	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
3	chr12:9889267..9893240-chr12:9909352..9912451,4	K562	blood:

Variant related genes	Relation type
ENSG00000184293	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1008610	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1044771	0.85[JPT][hapmap]
rs10466829	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10492165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10492166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10743819	0.87[ASN][1000 genomes]
rs10743823	0.86[JPT][hapmap]
rs10772046	0.84[ASN][1000 genomes]
rs10772062	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10772070	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772071	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772072	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772073	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772074	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772079	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772085	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10772087	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772090	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772091	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10772092	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10772094	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10772102	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772108	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844456	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs10844468	0.84[ASN][1000 genomes]
rs10844503	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs10844537	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10844562	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844569	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844597	0.84[ASN][1000 genomes]
rs10844609	0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844610	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844615	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844617	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10844620	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844622	0.91[ASN][1000 genomes]
rs10844626	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844627	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844630	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844632	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844633	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844635	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844636	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844637	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844638	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844639	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844640	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10844682	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844706	0.91[JPT][hapmap]
rs11052372	0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs11052423	0.83[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs11052426	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs11052552	0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11052604	0.85[ASN][1000 genomes]
rs11052710	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11052713	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052717	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052750	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11052751	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11052752	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11052756	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11052877	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12227655	0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12228641	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12304510	0.91[ASN][1000 genomes]
rs12317499	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17806710	0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs2058560	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2080211	0.85[JPT][hapmap]
rs2098298	0.94[JPT][hapmap]
rs2114870	0.83[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2192437	0.89[ASN][1000 genomes]
rs2268146	0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2401390	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2401391	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2401393	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2401394	0.89[ASN][1000 genomes]
rs2401395	0.89[ASN][1000 genomes]
rs3764021	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs3764022	0.84[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs4763840	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4763879	0.82[JPT][hapmap]
rs7296241	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7306304	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7306557	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7307111	0.87[ASN][1000 genomes]
rs7310460	0.85[JPT][hapmap]
rs741199	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956831	0.92[ASN][1000 genomes]
rs7968401	0.80[ASN][1000 genomes]
rs7970116	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7973535	0.89[ASN][1000 genomes]
rs7973638	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7974396	0.90[JPT][hapmap]
rs7976584	0.89[ASN][1000 genomes]
rs7977720	0.86[ASN][1000 genomes]
rs917911	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9886000-9894600	Enhancers	Primary B cells from cord blood	blood
2	chr12:9887600-9893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:9889000-9895200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:9890400-9893800	Weak transcription	Dnd41	blood
5	chr12:9890400-9895200	Weak transcription	Hela-S3	cervix
6	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
7	chr12:9892000-9893400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:9892400-9894800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:9892400-9895800	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:9892600-9893600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:9892600-9894800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:9892600-9894800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:9892800-9893400	Enhancers	Adipose Nuclei	Adipose
14	chr12:9892800-9893600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:9892800-9893600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:9892800-9893800	Enhancers	Fetal Thymus	thymus
17	chr12:9892800-9894400	Enhancers	Primary T cells from cord blood	blood
18	chr12:9892800-9894400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:9892800-9894600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:9892800-9895200	Weak transcription	Colonic Mucosa	Colon
21	chr12:9892800-9895200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:9892800-9903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:9893000-9893400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:9893000-9893400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr12:9893000-9893400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:9893000-9893400	Enhancers	Lung	lung
27	chr12:9893000-9893400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:9893000-9893400	Enhancers	Stomach Mucosa	stomach
29	chr12:9893000-9893600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:9893000-9893600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:9893000-9893600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:9893000-9893600	Flanking Active TSS	K562	blood
33	chr12:9893000-9894200	Weak transcription	Thymus	Thymus
34	chr12:9893000-9894800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:9893000-9895200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:9893000-9895400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:9893000-9896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:9893000-9896800	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:9893200-9893400	Flanking Active TSS	Pancreas	Pancrea
40	chr12:9893200-9894200	Enhancers	GM12878-XiMat	blood
41	chr12:9893200-9894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:9893200-9894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr12:9893200-9895200	Weak transcription	Esophagus	oesophagus
44	chr12:9893200-9895400	Weak transcription	Placenta	Placenta

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