Variant report

Variant	rs1344925
Chromosome Location	chr2:178617778-178617779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178616347..178619480-chr2:178623071..178625301,3	K562	blood:
2	chr2:178617088..178619453-chr2:178625433..178628284,2	K562	blood:
3	chr2:178615690..178619114-chr2:178629203..178632242,4	K562	blood:
4	chr2:178593465..178594969-chr2:178617292..178619155,2	K562	blood:
5	chr2:178605851..178612648-chr2:178616931..178621245,6	K562	blood:
6	chr2:178598484..178600375-chr2:178617502..178619853,2	MCF-7	breast:
7	chr2:178613827..178616533-chr2:178617278..178619906,2	K562	blood:

No data

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10175364	0.85[JPT][hapmap]
rs10497488	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10497489	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930806	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684634	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12622125	1.00[JPT][hapmap]
rs12987101	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs12989020	0.82[EUR][1000 genomes]
rs13012431	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs13031632	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428806	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap]
rs1344916	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1344917	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1370655	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1370656	0.81[MKK][hapmap]
rs1370663	0.82[MEX][hapmap]
rs1438037	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1438038	0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1438039	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1438048	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1438049	0.80[YRI][hapmap]
rs1469973	0.82[MEX][hapmap]
rs1561319	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1561320	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16865726	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16865764	1.00[JPT][hapmap]
rs16865769	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16865791	0.85[JPT][hapmap]
rs17400512	0.80[CEU][hapmap];0.87[GIH][hapmap];0.82[EUR][1000 genomes]
rs1866208	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1866209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1866210	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1866211	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1866212	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1946812	0.85[JPT][hapmap]
rs1975321	0.82[MEX][hapmap]
rs1975323	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1975324	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2164857	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2365889	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28707296	0.92[EUR][1000 genomes]
rs2886498	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34952652	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754991	1.00[JPT][hapmap]
rs3754993	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3754994	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3770023	0.81[MEX][hapmap]
rs3770028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770034	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3770042	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3770043	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3770047	0.85[JPT][hapmap]
rs3821007	1.00[JPT][hapmap]
rs3821009	0.85[JPT][hapmap]
rs4893839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4893840	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4893987	1.00[JPT][hapmap]
rs57427125	0.92[ASN][1000 genomes]
rs57877880	0.92[ASN][1000 genomes]
rs58408943	0.92[ASN][1000 genomes]
rs59657949	0.84[ASN][1000 genomes]
rs60748325	0.92[ASN][1000 genomes]
rs62183005	0.92[ASN][1000 genomes]
rs62183040	0.88[ASN][1000 genomes]
rs6433693	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6704720	1.00[JPT][hapmap]
rs6756240	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73030327	0.92[ASN][1000 genomes]
rs73030354	0.92[ASN][1000 genomes]
rs749207	0.92[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs749208	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7562835	1.00[JPT][hapmap]
rs7567851	0.85[JPT][hapmap]
rs934798	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs998059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs998060	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs998061	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178606000-178617800	Weak transcription	Ovary	ovary
2	chr2:178610600-178618400	Weak transcription	Right Atrium	heart
3	chr2:178610600-178618400	Weak transcription	Right Ventricle	heart
4	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
5	chr2:178610800-178618400	Weak transcription	Left Ventricle	heart
6	chr2:178610800-178618800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:178612600-178618200	Weak transcription	Adipose Nuclei	Adipose
8	chr2:178612800-178618200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:178613200-178618200	Weak transcription	K562	blood
10	chr2:178613400-178617800	Weak transcription	Fetal Heart	heart
11	chr2:178614800-178624000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:178615400-178617800	Weak transcription	Fetal Lung	lung
13	chr2:178616000-178617800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:178616200-178618400	Weak transcription	Stomach Mucosa	stomach
15	chr2:178616800-178618400	Weak transcription	Psoas Muscle	Psoas
16	chr2:178617000-178619200	Enhancers	Fetal Kidney	kidney
17	chr2:178617400-178618400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:178617400-178620000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:178617600-178619600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:178617600-178619800	Enhancers	Pancreatic Islets	Pancreatic Islet

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