Variant report

Variant	rs1070232
Chromosome Location	chr3:136248087-136248088
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	chr3:136247859..136250822-chr3:136470944..136473511,2	K562	blood:

Variant related genes	Relation type
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1070230	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10935182	0.93[JPT][hapmap]
rs10935183	0.87[JPT][hapmap]
rs10935184	1.00[JPT][hapmap]
rs10935186	0.93[JPT][hapmap]
rs1145106	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs11715257	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs11717954	0.87[JPT][hapmap]
rs11919030	0.93[JPT][hapmap]
rs12489577	0.82[EUR][1000 genomes]
rs12492510	0.87[JPT][hapmap]
rs12630999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12635723	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12637102	0.87[EUR][1000 genomes]
rs1394092	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1711161	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs2062322	0.93[JPT][hapmap]
rs2655008	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs3856637	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs4038578	0.93[JPT][hapmap]
rs4408829	0.93[JPT][hapmap]
rs4521165	1.00[JPT][hapmap]
rs4678433	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4678437	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs4678438	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs521746	0.87[JPT][hapmap]
rs571513	1.00[JPT][hapmap]
rs58994059	0.88[ASN][1000 genomes]
rs595532	0.93[JPT][hapmap]
rs619605	0.93[JPT][hapmap]
rs6439646	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6439649	1.00[JPT][hapmap]
rs654237	0.93[JPT][hapmap]
rs655836	0.93[JPT][hapmap]
rs667920	1.00[JPT][hapmap]
rs6789488	0.82[EUR][1000 genomes]
rs6791142	0.93[JPT][hapmap]
rs6791611	0.87[JPT][hapmap]
rs6794351	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6808312	1.00[JPT][hapmap]
rs695983	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs696516	0.80[CEU][hapmap];0.93[JPT][hapmap]
rs696518	0.93[JPT][hapmap]
rs696520	1.00[JPT][hapmap]
rs698270	0.93[JPT][hapmap]
rs699165	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs711975	0.93[JPT][hapmap]
rs711976	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7432375	0.93[JPT][hapmap]
rs7616204	0.93[JPT][hapmap]
rs7618518	1.00[JPT][hapmap]
rs7618871	0.93[JPT][hapmap]
rs7621025	0.81[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833752	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs834304	0.85[JPT][hapmap]
rs864437	0.87[JPT][hapmap]
rs866758	0.87[JPT][hapmap]
rs900048	0.90[CEU][hapmap];0.93[JPT][hapmap]
rs9289511	0.91[ASN][1000 genomes]
rs940174	0.93[JPT][hapmap]
rs9757777	0.82[EUR][1000 genomes]
rs9811416	0.93[ASN][1000 genomes]
rs9821478	0.89[CHB][hapmap]
rs9836231	0.93[JPT][hapmap]
rs9845762	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs9854084	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877523	chr3:136088038-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv520012	chr3:136088038-136314119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv877524	chr3:136112109-136295283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv877525	chr3:136112109-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv877526	chr3:136149139-136310985	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv877527	chr3:136182053-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv877528	chr3:136209550-136295283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv591850	chr3:136209550-136300732	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:136176600-136260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:136176800-136266200	Weak transcription	Hela-S3	cervix
4	chr3:136191400-136268000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:136192400-136252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:136195400-136250400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:136195400-136278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:136212200-136323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:136212400-136249600	Weak transcription	Lung	lung
10	chr3:136212600-136248200	Weak transcription	Esophagus	oesophagus
11	chr3:136213000-136251000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:136213000-136252200	Weak transcription	Left Ventricle	heart
13	chr3:136213000-136326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:136220600-136266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:136221200-136251000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:136221400-136251000	Weak transcription	Liver	Liver
17	chr3:136221600-136251000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:136222200-136251000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:136222200-136251200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:136222400-136266200	Weak transcription	HSMM	muscle
21	chr3:136230400-136251000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:136232000-136263600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:136232400-136251000	Weak transcription	Adipose Nuclei	Adipose
24	chr3:136232400-136255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:136232600-136251000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:136232800-136250800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:136238200-136248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:136245400-136248200	Weak transcription	Spleen	Spleen
29	chr3:136246000-136248600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr3:136246200-136250000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:136246600-136286200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:136247000-136248600	Weak transcription	Pancreas	Pancrea
33	chr3:136247200-136248400	Weak transcription	Fetal Lung	lung
34	chr3:136247200-136249600	Weak transcription	Ovary	ovary
35	chr3:136247200-136251200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:136247200-136252400	Weak transcription	Thymus	Thymus
37	chr3:136247200-136319800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:136247200-136334800	Weak transcription	Aorta	Aorta
39	chr3:136247400-136270600	Weak transcription	Fetal Thymus	thymus
40	chr3:136247800-136255200	Weak transcription	Fetal Stomach	stomach
41	chr3:136247800-136261600	Weak transcription	Primary monocytes fromperipheralblood	blood

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