Variant report

Variant	rs2126143
Chromosome Location	chr3:159510038-159510039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159505829..159507763-chr3:159508214..159510388,2	K562	blood:
2	chr3:159506660..159510516-chr3:159511737..159514255,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13070254	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461103	0.96[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463514	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1675497	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs1965998	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169303	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886623	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33050	1.00[JPT][hapmap]
rs33054	1.00[JPT][hapmap]
rs33056	1.00[JPT][hapmap]
rs3851360	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863075	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889311	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911714	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513503	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680520	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680527	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6441274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441275	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788052	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6802934	0.84[AMR][1000 genomes]
rs6805556	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7625089	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636819	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812520	1.00[YRI][hapmap]
rs9820045	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4084	chr3:159492488-159513251	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159493600-159516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:159501800-159510200	Enhancers	Fetal Intestine Large	intestine
3	chr3:159502000-159522800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:159503000-159510200	Enhancers	Fetal Intestine Small	intestine
5	chr3:159504000-159518600	Enhancers	Brain Hippocampus Middle	brain
6	chr3:159504200-159518400	Enhancers	Brain Substantia Nigra	brain
7	chr3:159504600-159511200	Enhancers	Brain Anterior Caudate	brain
8	chr3:159505000-159515000	Enhancers	Brain Angular Gyrus	brain
9	chr3:159505600-159512600	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:159505600-159515600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:159506000-159518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:159506200-159522600	Weak transcription	Fetal Kidney	kidney
13	chr3:159506400-159511200	Enhancers	A549	lung
14	chr3:159506400-159512400	Weak transcription	Right Atrium	heart
15	chr3:159506400-159512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:159506400-159513200	Weak transcription	NHLF	lung
17	chr3:159506400-159513800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:159506400-159522400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:159506600-159514200	Weak transcription	Fetal Heart	heart
20	chr3:159506800-159513000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:159507000-159510200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:159507000-159512200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:159507000-159513600	Weak transcription	NH-A	brain
24	chr3:159507400-159512400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:159507400-159512600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:159507600-159510200	Enhancers	Aorta	Aorta
27	chr3:159508000-159513800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:159508000-159513800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:159508000-159514000	Weak transcription	HMEC	breast
30	chr3:159508200-159510600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:159508600-159520600	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:159509000-159510200	Enhancers	HSMM	muscle
33	chr3:159509000-159510400	Enhancers	NHDF-Ad	bronchial
34	chr3:159509000-159510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:159509000-159516600	Weak transcription	Liver	Liver
36	chr3:159509200-159510200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:159509200-159510200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:159509200-159510200	Enhancers	Left Ventricle	heart
39	chr3:159509200-159515000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:159509200-159516600	Weak transcription	HepG2	liver
41	chr3:159509400-159510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:159509400-159510200	Enhancers	Osteobl	bone
43	chr3:159509400-159512400	Enhancers	HUVEC	blood vessel
44	chr3:159509400-159512600	Enhancers	Stomach Smooth Muscle	stomach
45	chr3:159509400-159513600	Weak transcription	Lung	lung
46	chr3:159509400-159513800	Enhancers	Colon Smooth Muscle	Colon
47	chr3:159509400-159514000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:159509400-159515600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:159509400-159517200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:159509600-159511000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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