Variant report

Variant	rs7969196
Chromosome Location	chr12:121377656-121377657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1077195	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774572	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10849791	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10849807	0.95[JPT][hapmap]
rs10849819	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11065282	0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs11065283	0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs11065292	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065300	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11065311	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs11065324	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs1151849	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs1151862	0.95[JPT][hapmap]
rs11611087	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs1177585	0.95[JPT][hapmap]
rs12580949	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs12822123	1.00[JPT][hapmap]
rs13746	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs1542859	0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.87[YRI][hapmap]
rs1696357	0.89[CHD][hapmap];0.91[JPT][hapmap]
rs2004910	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2047568	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2133638	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2393717	0.95[JPT][hapmap]
rs3213566	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs3213570	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs3213572	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs3809313	0.95[JPT][hapmap]
rs3883901	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs3897746	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs3901854	0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs4454799	0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs471688	1.00[JPT][hapmap]
rs4767937	0.95[JPT][hapmap]
rs508595	0.95[JPT][hapmap]
rs520753	0.81[JPT][hapmap]
rs531782	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs610694	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs624216	0.95[JPT][hapmap]
rs625228	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs661647	0.94[JPT][hapmap]
rs7137504	0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs869781	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs909053	0.95[JPT][hapmap]
rs9431	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs989986	0.89[CHD][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr12:121367400-121394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121371200-121380200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:121374000-121379000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:121375600-121382600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:121376200-121378000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:121376600-121377800	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:121376600-121379800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:121376800-121378000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:121376800-121378400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:121377200-121378000	Enhancers	Fetal Thymus	thymus
11	chr12:121377400-121380400	Enhancers	HepG2	liver
12	chr12:121377600-121378000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:121377600-121378200	Enhancers	Adipose Nuclei	Adipose

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