Variant report

Variant	rs10844620
Chromosome Location	chr12:9882506-9882507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9876110..9878240-chr12:9880296..9883371,3	K562	blood:
2	chr12:9874964..9878982-chr12:9880296..9882811,3	K562	blood:
3	chr12:9881185..9883012-chr12:9884360..9886826,2	K562	blood:

Variant related genes	Relation type
ENSG00000184293	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1008610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1044771	0.84[JPT][hapmap]
rs10466829	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10492165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10492166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10743819	0.93[ASN][1000 genomes]
rs10743823	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10772046	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772062	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10772070	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772071	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772072	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772073	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772074	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772079	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772085	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10772087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772090	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772091	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772092	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772094	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772102	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772108	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844380	0.81[ASN][1000 genomes]
rs10844427	0.83[EUR][1000 genomes]
rs10844456	0.86[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844468	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844503	0.87[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844537	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844562	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844569	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844597	0.90[ASN][1000 genomes]
rs10844609	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844617	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10844622	0.97[ASN][1000 genomes]
rs10844626	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844627	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844630	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844632	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844633	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844635	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844637	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844639	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10844640	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844657	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]
rs10844682	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844706	0.90[JPT][hapmap]
rs11052372	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052423	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052426	0.86[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052552	0.86[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs11052604	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052710	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11052713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11052717	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052750	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052751	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052752	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052756	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052877	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12227655	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228641	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12304510	0.97[ASN][1000 genomes]
rs12317499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806710	0.85[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985788	0.82[ASN][1000 genomes]
rs2058560	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080206	0.81[ASN][1000 genomes]
rs2080211	0.83[JPT][hapmap]
rs2098298	0.94[JPT][hapmap]
rs2114870	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs2192437	0.95[ASN][1000 genomes]
rs2268146	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2401390	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2401391	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2401393	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2401394	0.95[ASN][1000 genomes]
rs2401395	0.95[ASN][1000 genomes]
rs3764021	0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs3764022	0.87[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763839	0.84[ASN][1000 genomes]
rs4763840	0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4763879	0.80[JPT][hapmap]
rs7296241	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7306304	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7306557	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7307111	0.93[ASN][1000 genomes]
rs7310460	0.84[JPT][hapmap]
rs741199	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741200	0.83[ASN][1000 genomes]
rs7956831	0.96[ASN][1000 genomes]
rs7964018	0.83[ASN][1000 genomes]
rs7968401	0.87[ASN][1000 genomes]
rs7970116	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7973535	0.95[ASN][1000 genomes]
rs7973638	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7974396	0.89[JPT][hapmap]
rs7976584	0.95[ASN][1000 genomes]
rs7977720	0.93[ASN][1000 genomes]
rs917911	0.95[JPT][hapmap]

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	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
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:9878600-9882600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:9878600-9886000	Active TSS	GM12878-XiMat	blood
4	chr12:9879200-9882800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:9881000-9884000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:9881600-9885600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:9882000-9882600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:9882400-9882600	Enhancers	Primary B cells from cord blood	blood
9	chr12:9882400-9883000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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