Variant report

Variant	rs12220866
Chromosome Location	chr10:92505542-92505543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:92501868..92504163-chr10:92504475..92507268,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10509608	0.84[CEU][hapmap]
rs10881829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10881831	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10881833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10881834	0.94[ASN][1000 genomes]
rs10881835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10881841	0.93[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10881843	0.86[ASN][1000 genomes]
rs10881845	0.92[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10881846	0.84[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10881848	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10881850	0.92[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11186282	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186292	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11186298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186305	0.93[ASN][1000 genomes]
rs11186306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186315	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11186323	0.94[ASN][1000 genomes]
rs11186333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11186336	0.87[ASN][1000 genomes]
rs11186338	0.92[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11186339	0.87[EUR][1000 genomes]
rs11186343	0.91[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11186344	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11186346	0.91[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11186352	0.93[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11186358	0.84[ASN][1000 genomes]
rs11186359	0.92[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11186360	0.92[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs11186361	0.84[ASN][1000 genomes]
rs11186367	0.92[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11186368	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11498506	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs11498507	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11498662	0.94[ASN][1000 genomes]
rs11527868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12244538	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12249377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12255018	0.93[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12256605	0.87[ASN][1000 genomes]
rs12258938	0.90[ASN][1000 genomes]
rs12261011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12264160	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1573253	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1592143	0.94[ASN][1000 genomes]
rs17102362	0.84[ASN][1000 genomes]
rs1891311	0.91[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1891312	0.86[ASN][1000 genomes]
rs2420203	0.84[CEU][hapmap]
rs2901026	0.87[ASN][1000 genomes]
rs2901127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4144422	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs4282910	0.92[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4284320	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4586057	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs58578719	0.92[ASN][1000 genomes]
rs59257274	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61481895	0.86[ASN][1000 genomes]
rs7082814	0.84[ASN][1000 genomes]
rs7085559	0.87[ASN][1000 genomes]
rs7096568	0.93[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs73315609	0.94[ASN][1000 genomes]
rs73315628	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74148885	0.90[ASN][1000 genomes]
rs7478556	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7903584	0.84[ASN][1000 genomes]
rs7916720	0.93[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422237	chr10:91940542-92547558	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1052753	chr10:92081093-92565617	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv467432	chr10:92082250-92559908	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv551879	chr10:92082250-92559908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv467433	chr10:92083015-92598458	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv551880	chr10:92083015-92598458	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv516743	chr10:92083015-92605119	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1049931	chr10:92083932-92605364	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv948363	chr10:92084520-92614402	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv551882	chr10:92090785-92598823	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1047255	chr10:92095431-92548184	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv540744	chr10:92095431-92548184	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1054504	chr10:92099335-92590723	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv533133	chr10:92363552-92594891	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1036058	chr10:92471568-92605364	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92494600-92510800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:92495000-92508600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:92502000-92508400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:92502800-92507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:92502800-92515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:92503000-92506600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:92503000-92508400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:92503000-92515400	Weak transcription	HMEC	breast
9	chr10:92503400-92506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:92503400-92506800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:92503400-92507800	Weak transcription	NHEK	skin
12	chr10:92503400-92511000	Weak transcription	H1 Cell Line	embryonic stem cell

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