Variant report

Variant	rs1479592
Chromosome Location	chr2:168049526-168049527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10451542	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1155284	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1155285	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11888230	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs11893404	0.89[EUR][1000 genomes]
rs11902653	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs1346722	0.88[CEU][hapmap];0.84[YRI][hapmap]
rs16853050	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16853057	0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[EUR][1000 genomes]
rs16853217	0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4000962	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4533448	0.93[CEU][hapmap]
rs55733637	0.89[EUR][1000 genomes]
rs58616240	0.89[EUR][1000 genomes]
rs6432979	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66701411	0.83[EUR][1000 genomes]
rs67074513	0.86[EUR][1000 genomes]
rs6711844	0.94[CEU][hapmap];0.96[CHB][hapmap];0.83[EUR][1000 genomes]
rs6720352	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6720763	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs67386767	0.89[EUR][1000 genomes]
rs67485531	0.81[EUR][1000 genomes]
rs67726376	0.89[EUR][1000 genomes]
rs73017939	0.85[EUR][1000 genomes]
rs7569147	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs7575729	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7585061	0.82[EUR][1000 genomes]
rs7597463	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs988445	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs998899	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[YRI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168039000-168053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:168043400-168051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:168043800-168049600	Active TSS	Right Ventricle	heart
4	chr2:168043800-168050200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:168045000-168050200	Enhancers	Osteobl	bone
6	chr2:168045000-168053000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:168045400-168052600	Weak transcription	Fetal Lung	lung
8	chr2:168045400-168053200	Weak transcription	Fetal Brain Female	brain
9	chr2:168045600-168053000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:168045800-168051600	Weak transcription	Fetal Heart	heart
11	chr2:168046800-168052000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:168047000-168053000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:168047800-168050200	Enhancers	HSMM	muscle
14	chr2:168048000-168050000	Enhancers	NHLF	lung
15	chr2:168048200-168050200	Enhancers	NHDF-Ad	bronchial
16	chr2:168048400-168052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:168048800-168050200	Enhancers	HMEC	breast
18	chr2:168049000-168049600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:168049000-168049800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:168049000-168050000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:168049000-168050000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:168049200-168049600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:168049200-168049600	Enhancers	Fetal Muscle Leg	muscle
24	chr2:168049200-168049600	Enhancers	Left Ventricle	heart
25	chr2:168049200-168049600	Enhancers	Right Atrium	heart
26	chr2:168049200-168049600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr2:168049200-168049600	Flanking Active TSS	HSMMtube	muscle
28	chr2:168049200-168049600	Flanking Active TSS	NH-A	brain
29	chr2:168049200-168050000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:168049200-168050000	Enhancers	Adipose Nuclei	Adipose
31	chr2:168049400-168052000	Weak transcription	Psoas Muscle	Psoas
32	chr2:168049400-168052800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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