Variant report

Variant	rs10844610
Chromosome Location	chr12:9876612-9876613
allele	C/T
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	ZNF384	chr12:9876489-9877105	GM12878	blood:	n/a	n/a
2	ZNF384	chr12:9876557-9876926	K562	blood:	n/a	n/a
3	POLR2A	chr12:9876589-9876753	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:9875952-9876807	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9876569..9878295-chr12:9885822..9888452,2	K562	blood:
2	chr12:9876110..9878240-chr12:9880296..9883371,3	K562	blood:
3	chr12:9792708..9795930-chr12:9875976..9879286,3	K562	blood:
4	chr12:9801303..9803979-chr12:9875830..9877610,2	K562	blood:

Variant related genes	Relation type
CLECL1	TF binding region
ENSG00000184293	Chromatin interaction
ENSG00000233719	Chromatin interaction
ENSG00000272917	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1008610	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10466829	0.95[ASN][1000 genomes]
rs10492165	0.94[ASN][1000 genomes]
rs10492166	0.94[ASN][1000 genomes]
rs10743819	0.93[ASN][1000 genomes]
rs10743823	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	0.95[ASN][1000 genomes]
rs10772087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10772090	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10772091	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10772092	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10772094	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10772102	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10772108	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10844380	0.81[ASN][1000 genomes]
rs10844427	0.83[EUR][1000 genomes]
rs10844456	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844468	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844503	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844537	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]
rs10844615	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844617	0.95[ASN][1000 genomes]
rs10844620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844622	0.94[ASN][1000 genomes]
rs10844626	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844627	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844630	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844632	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844633	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844635	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844636	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844637	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844638	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844639	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844640	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844657	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844682	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11052372	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052423	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052426	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052552	0.89[ASN][1000 genomes]
rs11052604	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052710	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];0.96[ASN][1000 genomes]
rs11052751	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11052752	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11052756	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12227655	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	0.94[ASN][1000 genomes]
rs12317499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17806710	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	0.82[ASN][1000 genomes]
rs2114870	0.83[ASN][1000 genomes]
rs2192437	0.95[ASN][1000 genomes]
rs2268146	0.95[ASN][1000 genomes]
rs2401390	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2401391	0.95[ASN][1000 genomes]
rs2401393	0.95[ASN][1000 genomes]
rs2401394	0.95[ASN][1000 genomes]
rs2401395	0.95[ASN][1000 genomes]
rs3764021	0.89[ASN][1000 genomes]
rs3764022	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763839	0.81[ASN][1000 genomes]
rs4763840	0.82[ASN][1000 genomes]
rs7296241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7306304	0.95[ASN][1000 genomes]
rs7306557	0.95[ASN][1000 genomes]
rs7307111	0.93[ASN][1000 genomes]
rs741199	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741200	0.83[ASN][1000 genomes]
rs7956831	0.93[ASN][1000 genomes]
rs7964018	0.83[ASN][1000 genomes]
rs7968401	0.87[ASN][1000 genomes]
rs7970116	0.95[ASN][1000 genomes]
rs7973535	0.95[ASN][1000 genomes]
rs7973638	0.95[ASN][1000 genomes]
rs7976584	0.95[ASN][1000 genomes]
rs7977720	0.93[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	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:9868600-9879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:9873600-9876800	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9873600-9877600	Flanking Active TSS	GM12878-XiMat	blood
6	chr12:9874400-9877800	Weak transcription	NHEK	skin
7	chr12:9874400-9878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:9874400-9881400	Enhancers	Primary B cells from cord blood	blood
9	chr12:9874600-9878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:9875000-9881200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:9875400-9877400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:9875600-9880000	Weak transcription	HUVEC	blood vessel
13	chr12:9876400-9876800	Enhancers	Primary monocytes fromperipheralblood	blood

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