Variant report

Variant	rs10844615
Chromosome Location	chr12:9878242-9878243
allele	A/C
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	STAT3	chr12:9878100-9878397	MCF10A-Er-Src	breast:	n/a	n/a
2	TBL1XR1	chr12:9878123-9878301	GM12878	blood:	n/a	n/a
3	STAT3	chr12:9877829-9878374	MCF10A-Er-Src	breast:	n/a	chr12:9878075-9878086
4	FOS	chr12:9877766-9878399	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr12:9878148-9878339	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr12:9877997-9878724	MCF10A-Er-Src	breast:	n/a	chr12:9878075-9878086
7	FOS	chr12:9877850-9878427	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr12:9877961-9878331	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9876569..9878295-chr12:9885822..9888452,2	K562	blood:
2	chr12:9792708..9795930-chr12:9875976..9879286,3	K562	blood:

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

Extended variants
information (count: 114 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1008610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1044771	0.91[JPT][hapmap]
rs10466829	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10492165	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10492166	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10743819	0.95[ASN][1000 genomes]
rs10743823	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10772046	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772062	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10772070	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772071	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772072	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772073	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772074	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772079	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10772087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772090	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10772091	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772092	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772094	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772102	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772108	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844380	0.83[ASN][1000 genomes]
rs10844427	0.83[EUR][1000 genomes]
rs10844456	0.87[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844468	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844503	0.88[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844537	0.82[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10844562	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844569	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844597	0.92[ASN][1000 genomes]
rs10844609	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844610	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10844620	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]
rs10844622	0.95[ASN][1000 genomes]
rs10844626	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844627	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844630	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844632	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844633	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844635	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844636	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844637	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844638	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844639	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844640	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844657	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]
rs10844673	0.86[ASW][hapmap]
rs10844682	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844706	0.86[JPT][hapmap]
rs11052372	0.87[ASW][hapmap];0.84[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052423	0.87[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052426	0.87[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052552	0.89[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11052582	0.81[ASN][1000 genomes]
rs11052604	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11052710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11052713	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052750	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052751	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052752	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052756	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052877	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12227655	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228641	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12304510	0.95[ASN][1000 genomes]
rs12317499	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12427310	0.81[ASN][1000 genomes]
rs17806710	0.87[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985788	0.83[ASN][1000 genomes]
rs2012643	0.80[ASN][1000 genomes]
rs2058560	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080206	0.83[ASN][1000 genomes]
rs2080211	0.89[JPT][hapmap]
rs2098298	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2114870	0.88[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs2192437	0.96[ASN][1000 genomes]
rs2268146	0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2401390	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2401393	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2401394	0.96[ASN][1000 genomes]
rs2401395	0.96[ASN][1000 genomes]
rs2895988	0.85[JPT][hapmap]
rs3764021	0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3764022	0.88[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763839	0.83[ASN][1000 genomes]
rs4763840	0.85[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs61915473	0.81[ASN][1000 genomes]
rs7296241	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7306557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7307111	0.95[ASN][1000 genomes]
rs7310460	0.91[JPT][hapmap]
rs741199	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741200	0.85[ASN][1000 genomes]
rs7956831	0.95[ASN][1000 genomes]
rs7964018	0.84[ASN][1000 genomes]
rs7968401	0.89[ASN][1000 genomes]
rs7970116	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7973535	0.96[ASN][1000 genomes]
rs7973638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7974396	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7976584	0.96[ASN][1000 genomes]
rs7977720	0.95[ASN][1000 genomes]
rs917911	0.91[JPT][hapmap]
rs917913	0.81[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10844615	LOC653113	cis	parietal	SCAN
rs10844615	PTMS	cis	parietal	SCAN
rs10844615	CLEC2A	cis	parietal	SCAN

Chromatin state (count:15 , 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	chr12:9874400-9881400	Enhancers	Primary B cells from cord blood	blood
5	chr12:9875000-9881200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:9875600-9880000	Weak transcription	HUVEC	blood vessel
7	chr12:9877400-9878600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:9877800-9878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:9877800-9878600	Enhancers	NHEK	skin
10	chr12:9878000-9878400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:9878000-9878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:9878000-9878600	Enhancers	HMEC	breast
13	chr12:9878200-9878600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:9878200-9878600	Flanking Active TSS	GM12878-XiMat	blood
15	chr12:9878200-9879200	Enhancers	Primary B cells from peripheral blood	blood

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