Variant report

Variant	rs258755
Chromosome Location	chr5:142622176-142622177
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	chr5:142614986..142618525-chr5:142619164..142623308,4	K562	blood:
2	chr5:142575935..142578121-chr5:142621635..142624220,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10052957	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.80[ASN][1000 genomes]
rs10482633	0.82[GIH][hapmap]
rs10482689	0.81[GIH][hapmap]
rs10515521	0.82[GIH][hapmap]
rs11740792	0.82[GIH][hapmap]
rs11749561	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1438732	0.85[JPT][hapmap]
rs1635474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17339831	0.85[GIH][hapmap]
rs1837262	0.96[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap]
rs1866388	0.96[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap]
rs190488	0.96[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs2043840	0.85[JPT][hapmap]
rs258750	0.87[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs258753	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258756	0.84[AFR][1000 genomes]
rs258813	0.81[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs258814	0.82[EUR][1000 genomes]
rs2918415	0.85[JPT][hapmap]
rs2918416	0.87[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs2918417	0.81[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs2918418	0.85[JPT][hapmap]
rs2918419	0.85[JPT][hapmap]
rs2963149	0.87[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[ASN][1000 genomes]
rs2963151	0.85[JPT][hapmap]
rs2963153	0.82[ASN][1000 genomes]
rs2963154	0.85[JPT][hapmap]
rs33389	0.85[JPT][hapmap]
rs4128428	0.82[GIH][hapmap]
rs6188	0.87[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6194	0.85[JPT][hapmap]
rs6196	0.85[JPT][hapmap]
rs6198	0.82[GIH][hapmap]
rs6861962	0.85[JPT][hapmap]
rs72801096	0.80[ASN][1000 genomes]
rs852975	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs852977	0.87[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs852978	0.85[JPT][hapmap]
rs852979	0.81[EUR][1000 genomes]
rs852982	0.92[CEU][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs853154	0.98[ASN][1000 genomes]
rs853157	1.00[JPT][hapmap]
rs853177	0.93[ASN][1000 genomes]
rs853178	0.93[ASN][1000 genomes]
rs853184	0.85[JPT][hapmap]
rs860457	0.96[CEU][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs860465	0.93[ASN][1000 genomes]
rs862489	0.93[ASN][1000 genomes]
rs864082	0.85[JPT][hapmap]
rs9324918	0.85[JPT][hapmap]

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	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142603600-142628400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:142609400-142622400	Weak transcription	Psoas Muscle	Psoas
3	chr5:142613000-142623000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:142614000-142623400	Weak transcription	Fetal Lung	lung
5	chr5:142616000-142622200	Weak transcription	Stomach Mucosa	stomach
6	chr5:142618800-142628400	Weak transcription	Left Ventricle	heart
7	chr5:142619200-142624000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:142619600-142623200	Enhancers	NHLF	lung
9	chr5:142619600-142626400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:142619800-142622400	Enhancers	HMEC	breast
11	chr5:142620000-142623200	Weak transcription	K562	blood
12	chr5:142620000-142626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:142620200-142622200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:142620200-142622800	Weak transcription	Aorta	Aorta
15	chr5:142620200-142622800	Weak transcription	Fetal Stomach	stomach
16	chr5:142620200-142623200	Weak transcription	HepG2	liver
17	chr5:142620200-142628200	Weak transcription	Liver	Liver
18	chr5:142620800-142623400	Weak transcription	Right Atrium	heart
19	chr5:142621200-142622800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:142621200-142622800	Enhancers	NHEK	skin
21	chr5:142621400-142622400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:142621400-142623200	Enhancers	NHDF-Ad	bronchial
23	chr5:142621400-142623200	Enhancers	Osteobl	bone
24	chr5:142621400-142624800	Enhancers	HUVEC	blood vessel
25	chr5:142621400-142626400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:142621600-142622200	Flanking Active TSS	A549	lung
27	chr5:142621600-142622600	Enhancers	Hela-S3	cervix
28	chr5:142621600-142623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:142621600-142623200	Enhancers	NH-A	brain
30	chr5:142621600-142623400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:142621600-142626400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:142621800-142623200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:142621800-142623200	Enhancers	HSMM	muscle
34	chr5:142621800-142625000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:142621800-142626600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:142622000-142622200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:142622000-142622400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:142622000-142623400	Enhancers	HSMMtube	muscle
39	chr5:142622000-142623600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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