Variant report

Variant	rs1607040
Chromosome Location	chr12:39257281-39257282
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39256596..39258957-chr12:39260248..39262001,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10160990	0.85[CEU][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs10732735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1095573	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs11169056	0.82[JPT][hapmap]
rs11169615	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169618	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11537523	0.86[EUR][1000 genomes]
rs1356267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1400281	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1516553	0.91[EUR][1000 genomes]
rs1516557	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533918	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs1615648	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs1684426	0.83[EUR][1000 genomes]
rs1719833	0.85[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs1719847	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs1719860	0.86[EUR][1000 genomes]
rs1878225	0.80[JPT][hapmap]
rs1914052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1996879	0.90[EUR][1000 genomes]
rs2056529	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2069210	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs4002228	0.88[EUR][1000 genomes]
rs4768394	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7974247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7978838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826849	0.85[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs826853	0.85[CEU][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap]
rs826860	0.90[JPT][hapmap]
rs826861	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs826862	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs826869	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs826872	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs826884	0.85[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs826885	0.88[EUR][1000 genomes]
rs826887	0.90[JPT][hapmap]
rs826890	0.94[JPT][hapmap]
rs826894	0.89[JPT][hapmap]
rs851933	0.89[JPT][hapmap]
rs862331	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs862332	0.86[EUR][1000 genomes]
rs866120	0.85[CEU][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap]
rs908511	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39238800-39271600	Weak transcription	NHEK	skin
4	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
5	chr12:39247600-39257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:39251200-39265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:39252200-39276000	Weak transcription	Left Ventricle	heart
9	chr12:39252600-39257400	Weak transcription	Ovary	ovary
10	chr12:39252600-39262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:39252600-39265000	Weak transcription	Liver	Liver
12	chr12:39252600-39272000	Weak transcription	A549	lung
13	chr12:39253000-39257400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:39253000-39265000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:39253200-39272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:39254400-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:39255000-39265200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:39256800-39269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:39257000-39271400	Weak transcription	HMEC	breast
21	chr12:39257200-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:39257200-39265000	Weak transcription	GM12878-XiMat	blood
23	chr12:39257200-39265000	Weak transcription	Monocytes-CD14+_RO01746	blood

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