Variant report

Variant	rs62256391
Chromosome Location	chr3:67524848-67524849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:67520630..67522600-chr3:67524252..67526349,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11127623	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11705861	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11709258	0.85[AMR][1000 genomes]
rs11710800	0.82[ASN][1000 genomes]
rs11920877	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11923553	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12374036	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12495460	0.87[ASN][1000 genomes]
rs12497043	0.83[ASN][1000 genomes]
rs12635531	0.83[EUR][1000 genomes]
rs13059103	0.87[ASN][1000 genomes]
rs13076634	0.82[ASN][1000 genomes]
rs13090999	0.87[ASN][1000 genomes]
rs13095360	0.84[ASN][1000 genomes]
rs4327406	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4349513	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4577484	0.83[ASN][1000 genomes]
rs4645146	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4856782	0.83[ASN][1000 genomes]
rs4856863	0.82[ASN][1000 genomes]
rs4856864	0.82[ASN][1000 genomes]
rs4856865	0.82[ASN][1000 genomes]
rs55887942	0.82[ASN][1000 genomes]
rs56393250	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57077433	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60806282	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60931405	0.82[ASN][1000 genomes]
rs62256386	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62256387	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62256392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62256395	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62256396	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62256399	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6767651	0.82[ASN][1000 genomes]
rs6768043	0.82[ASN][1000 genomes]
rs6769758	0.82[ASN][1000 genomes]
rs6770533	0.82[ASN][1000 genomes]
rs6773365	0.87[ASN][1000 genomes]
rs6773425	0.82[ASN][1000 genomes]
rs6779086	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6780361	0.82[ASN][1000 genomes]
rs6789939	0.83[EUR][1000 genomes]
rs6791455	0.81[ASN][1000 genomes]
rs6802566	0.83[EUR][1000 genomes]
rs6805028	0.83[EUR][1000 genomes]
rs6810165	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73088910	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7429940	0.83[EUR][1000 genomes]
rs7614213	0.83[ASN][1000 genomes]
rs7620241	0.84[ASN][1000 genomes]
rs7630024	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7635366	0.87[ASN][1000 genomes]
rs7651649	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9873407	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
2	chr3:67473600-67542000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:67482600-67527200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:67482600-67528600	Weak transcription	GM12878-XiMat	blood
5	chr3:67482800-67533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:67488000-67544200	Weak transcription	A549	lung
7	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:67492200-67545400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:67498000-67534200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:67500800-67567000	Weak transcription	Pancreas	Pancrea
11	chr3:67501200-67533600	Weak transcription	Fetal Intestine Large	intestine
12	chr3:67504000-67559800	Weak transcription	Esophagus	oesophagus
13	chr3:67506600-67544000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:67508200-67577600	Weak transcription	Spleen	Spleen
15	chr3:67508800-67542000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:67509000-67537200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:67509200-67534400	Weak transcription	Left Ventricle	heart
18	chr3:67511600-67560000	Weak transcription	Lung	lung
19	chr3:67511800-67565000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:67512200-67544000	Weak transcription	Adipose Nuclei	Adipose
21	chr3:67512200-67545200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:67512400-67534200	Weak transcription	Gastric	stomach
23	chr3:67512800-67537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:67512800-67542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:67512800-67544000	Weak transcription	Dnd41	blood
26	chr3:67512800-67544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:67512800-67554800	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:67513000-67530800	Weak transcription	Fetal Stomach	stomach
29	chr3:67513200-67544000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:67513200-67544600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:67513200-67545200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:67513200-67564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:67513400-67526600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:67513400-67542600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:67513400-67567800	Weak transcription	NHLF	lung
36	chr3:67513600-67544200	Weak transcription	Liver	Liver
37	chr3:67513600-67559800	Weak transcription	NHDF-Ad	bronchial
38	chr3:67514400-67534000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:67514600-67559800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:67514800-67531200	Weak transcription	Ovary	ovary
41	chr3:67516200-67545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:67517200-67529400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:67517400-67536800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:67517600-67542400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:67518400-67526600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:67518800-67537000	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:67519000-67534000	Weak transcription	HSMM	muscle
48	chr3:67519000-67539200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:67519200-67545600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:67519400-67533400	Weak transcription	Primary B cells from peripheral blood	blood

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