Variant report

Variant	rs12619474
Chromosome Location	chr2:111985528-111985529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111964415..111966724-chr2:111984975..111986739,2	MCF-7	breast:
2	chr2:111985051..111989984-chr2:111990013..111994177,5	K562	blood:

Variant related genes	Relation type
ENSG00000172965	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174361	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197366	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10197465	0.81[EUR][1000 genomes]
rs10200879	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207669	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209377	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12329287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12711874	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12989775	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13400065	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13411196	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13431908	0.81[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13432448	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1398029	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1398030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464024	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35520250	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35565356	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616483	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848426	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv874843	chr2:111966947-112023328	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
2	chr2:111975000-111985600	Weak transcription	Esophagus	oesophagus
3	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
4	chr2:111977600-112011400	Weak transcription	A549	lung
5	chr2:111979800-111986000	Weak transcription	Spleen	Spleen
6	chr2:111980600-111993000	Weak transcription	Left Ventricle	heart
7	chr2:111980800-111993000	Weak transcription	Right Ventricle	heart
8	chr2:111983400-111985800	Enhancers	NHEK	skin
9	chr2:111983400-111989400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:111983600-111985600	Weak transcription	HSMM	muscle
11	chr2:111983800-111985600	Weak transcription	HepG2	liver
12	chr2:111984000-111994000	Weak transcription	K562	blood
13	chr2:111984200-111985600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:111984200-111985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:111984400-111985600	Enhancers	HSMMtube	muscle
16	chr2:111984400-111985800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:111984400-111985800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:111984400-111986000	Enhancers	Liver	Liver
19	chr2:111984400-111986200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:111984400-111986200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:111984600-111985800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:111984600-111986000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:111984600-111986200	Enhancers	Osteobl	bone
24	chr2:111984800-111985800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:111984800-111985800	Enhancers	HMEC	breast
26	chr2:111984800-111986200	Enhancers	NH-A	brain
27	chr2:111984800-111986400	Enhancers	NHDF-Ad	bronchial
28	chr2:111985200-111985800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:111985200-111985800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:111985200-111985800	Enhancers	Adipose Nuclei	Adipose
31	chr2:111985200-111986200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:111985200-111986200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:111985400-111985800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:111985400-111986000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:111985400-111986200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:111985400-111986200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:111985400-111986200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:111985400-111986200	ZNF genes & repeats	Dnd41	blood
39	chr2:111985400-111986400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:111985400-111986400	Enhancers	NHLF	lung

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