Variant report

Variant	rs972795
Chromosome Location	chr3:59760118-59760119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11707726	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs12490126	0.81[EUR][1000 genomes]
rs13085067	0.80[EUR][1000 genomes]
rs13085511	0.80[EUR][1000 genomes]
rs13092167	0.80[EUR][1000 genomes]
rs1485717	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1485734	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17061197	0.82[EUR][1000 genomes]
rs17361653	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34787563	0.89[ASN][1000 genomes]
rs35595242	0.86[ASN][1000 genomes]
rs4679505	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4679608	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs492836	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs517644	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs550626	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55799227	0.82[ASN][1000 genomes]
rs56377327	0.82[ASN][1000 genomes]
rs575614	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs659193	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7616694	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs780365	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs780370	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs810525	0.87[ASN][1000 genomes]
rs9813727	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9817691	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1003387	chr3:59756364-59831340	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv460562	chr3:59760118-59826778	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv590381	chr3:59760118-59826778	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59755600-59761400	Enhancers	Fetal Thymus	thymus
2	chr3:59756200-59760400	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:59756400-59761200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:59756600-59761200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:59756800-59763600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:59757200-59760200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:59757200-59761200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:59757800-59762200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:59758000-59760400	Weak transcription	NHEK	skin
10	chr3:59758000-59761200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:59758800-59760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:59759000-59761000	Enhancers	Fetal Brain Male	brain
13	chr3:59759000-59761600	Enhancers	HSMM	muscle
14	chr3:59759000-59762800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:59759200-59760200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr3:59759200-59761200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:59759200-59761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:59759200-59761800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:59759400-59760600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:59759400-59760800	Enhancers	Primary T cells from cord blood	blood
21	chr3:59759400-59760800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:59759400-59761000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:59759400-59761600	Enhancers	HSMMtube	muscle
24	chr3:59759400-59761800	Enhancers	Brain Germinal Matrix	brain
25	chr3:59759400-59762800	Weak transcription	Primary B cells from cord blood	blood
26	chr3:59759400-59765200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:59759600-59760600	Enhancers	NH-A	brain
28	chr3:59759600-59762200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:59759600-59762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:59759600-59763000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:59759600-59763000	Enhancers	Dnd41	blood
32	chr3:59759600-59763200	Weak transcription	GM12878-XiMat	blood
33	chr3:59759800-59760200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:59759800-59760600	Enhancers	NHDF-Ad	bronchial
35	chr3:59759800-59760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:59759800-59761000	Bivalent Enhancer	Thymus	Thymus
37	chr3:59759800-59761200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:59759800-59761200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:59759800-59761200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:59759800-59761200	Enhancers	HMEC	breast
41	chr3:59759800-59761400	Enhancers	Osteobl	bone
42	chr3:59759800-59761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:59759800-59762400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:59760000-59760200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr3:59760000-59760400	Enhancers	A549	lung
46	chr3:59760000-59761000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:59760000-59761000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:59760000-59761000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:59760000-59761000	Enhancers	Fetal Stomach	stomach

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