Variant report

Variant	rs12424591
Chromosome Location	chr12:121108145-121108146
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121092059..121094138-chr12:121107960..121109538,2	K562	blood:
2	chr12:121106092..121108586-chr12:121122971..121126312,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157782	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1055070	0.92[EUR][1000 genomes]
rs11556440	0.92[EUR][1000 genomes]
rs12425951	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948150	0.92[EUR][1000 genomes]
rs35014778	1.00[ASN][1000 genomes]
rs3751163	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs476676	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4767925	1.00[CHB][hapmap]
rs510900	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs547245	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55739221	0.92[EUR][1000 genomes]
rs55814383	0.92[EUR][1000 genomes]
rs55913556	0.82[EUR][1000 genomes]
rs55993251	0.92[EUR][1000 genomes]
rs56091449	0.95[ASN][1000 genomes]
rs56217506	0.92[EUR][1000 genomes]
rs56232241	0.87[EUR][1000 genomes]
rs57860907	0.95[ASN][1000 genomes]
rs59902644	1.00[ASN][1000 genomes]
rs644065	1.00[ASN][1000 genomes]
rs696335	1.00[ASN][1000 genomes]
rs696336	1.00[ASN][1000 genomes]
rs696338	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71454659	1.00[ASN][1000 genomes]
rs73222802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225008	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225010	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225017	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225018	0.92[EUR][1000 genomes]
rs73225026	0.95[ASN][1000 genomes]
rs73225027	0.95[ASN][1000 genomes]
rs73225031	0.95[ASN][1000 genomes]
rs73225032	0.95[ASN][1000 genomes]
rs73225033	0.92[EUR][1000 genomes]
rs73225035	0.92[EUR][1000 genomes]
rs73225095	0.92[EUR][1000 genomes]
rs7965649	1.00[CHB][hapmap]
rs8295	0.95[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121104400-121108600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:121105800-121108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:121105800-121108200	Enhancers	Primary B cells from cord blood	blood
4	chr12:121106000-121109000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:121106200-121108200	Enhancers	Fetal Intestine Small	intestine
6	chr12:121106600-121108200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:121107000-121108200	Flanking Active TSS	GM12878-XiMat	blood
8	chr12:121107200-121108200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:121107200-121108800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:121107200-121108800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121107200-121118200	Weak transcription	Left Ventricle	heart
12	chr12:121107400-121108200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:121107400-121108200	Enhancers	Fetal Kidney	kidney
14	chr12:121107400-121108400	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:121107400-121108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:121107400-121118200	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:121107400-121123400	Weak transcription	Right Atrium	heart
18	chr12:121107600-121108200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr12:121107600-121108400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:121107600-121108600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:121107600-121108600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:121107600-121115400	Weak transcription	A549	lung
23	chr12:121108000-121111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121108000-121111600	Weak transcription	Brain Germinal Matrix	brain

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