Variant report

Variant	rs4473342
Chromosome Location	chr2:160994845-160994846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:160993718..160995794-chr2:160997568..160999439,2	MCF-7	breast:
2	chr2:160992962..160997280-chr2:160998915..161002711,4	K562	blood:
3	chr2:160992962..160995573-chr2:161000331..161001986,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10171644	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[EUR][1000 genomes]
rs10176194	0.94[JPT][hapmap]
rs10179610	0.94[CHB][hapmap]
rs10184041	0.97[EUR][1000 genomes]
rs10193774	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10197183	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10202454	1.00[CEU][hapmap]
rs10205374	0.97[EUR][1000 genomes]
rs10497208	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs10929971	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs1156821	0.94[CHB][hapmap]
rs11890075	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11896610	0.97[EUR][1000 genomes]
rs11897691	0.96[YRI][hapmap]
rs11902965	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs12469192	0.87[ASN][1000 genomes]
rs12470622	0.87[ASN][1000 genomes]
rs12477682	0.87[ASN][1000 genomes]
rs12478021	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12616323	0.97[EUR][1000 genomes]
rs13027372	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs13390820	0.87[ASN][1000 genomes]
rs13394453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13401953	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403826	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs13413256	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13413895	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13426637	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13429856	0.87[ASN][1000 genomes]
rs13432255	0.84[ASN][1000 genomes]
rs13432522	0.87[ASN][1000 genomes]
rs1457235	0.87[YRI][hapmap]
rs1457237	0.85[AFR][1000 genomes]
rs1457238	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs1457239	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16844726	0.87[JPT][hapmap]
rs16844824	0.86[YRI][hapmap]
rs16844830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902622	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2061290	0.85[AFR][1000 genomes]
rs2124971	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2168672	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2290706	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2667026	1.00[JPT][hapmap]
rs3109389	0.94[JPT][hapmap]
rs34064895	0.85[AFR][1000 genomes]
rs34761275	0.87[ASN][1000 genomes]
rs35271738	0.82[AFR][1000 genomes]
rs3755547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796103	0.88[AFR][1000 genomes]
rs4337434	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4630719	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56011055	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57594443	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59236613	0.86[ASN][1000 genomes]
rs61377083	0.86[ASN][1000 genomes]
rs62175554	0.85[ASN][1000 genomes]
rs6432594	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6432600	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs6432601	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs6432602	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs6432609	0.97[EUR][1000 genomes]
rs6730023	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6735425	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6747699	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs6758074	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6760500	0.87[ASN][1000 genomes]
rs72994790	0.97[EUR][1000 genomes]
rs7563574	0.96[YRI][hapmap]
rs7563802	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7572338	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7579481	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7584446	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7586660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590004	0.95[EUR][1000 genomes]
rs7596372	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[EUR][1000 genomes]
rs7599127	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7603920	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7608267	0.84[AFR][1000 genomes]
rs7608557	0.95[EUR][1000 genomes]
rs897832	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs925409	0.88[JPT][hapmap]
rs9973856	0.97[EUR][1000 genomes];0.94[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	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959200-161004200	Weak transcription	Gastric	stomach
2	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
3	chr2:160980600-160996400	Weak transcription	HSMMtube	muscle
4	chr2:160983200-161005200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:160990000-161005000	Weak transcription	Colonic Mucosa	Colon
6	chr2:160993000-160995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:160993200-161002200	Weak transcription	Lung	lung
8	chr2:160993400-160995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:160993600-160995000	Strong transcription	HSMM	muscle
10	chr2:160993600-160998600	Strong transcription	HMEC	breast
11	chr2:160993600-160998800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:160993800-160997200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:160994000-160997200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:160994200-160996800	Weak transcription	Fetal Stomach	stomach
15	chr2:160994200-160998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:160994400-160996800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:160994400-160996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:160994400-160998600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:160994400-160999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:160994400-161002000	Weak transcription	Esophagus	oesophagus
21	chr2:160994400-161002000	Weak transcription	Fetal Intestine Large	intestine
22	chr2:160994400-161004200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:160994400-161014800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
25	chr2:160994600-160996800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:160994800-160998000	Weak transcription	NHEK	skin
28	chr2:160994800-160998600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:160994800-161001000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:160994800-161002000	Weak transcription	Placenta Amnion	Placenta Amnion

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