Variant report

Variant	rs55960353
Chromosome Location	chr5:37599586-37599587
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	chr5:37595713..37598522-chr5:37598796..37602630,3	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10062316	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1013398	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473055	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941343	0.80[ASN][1000 genomes]
rs10941344	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941345	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941347	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941348	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941349	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941350	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941351	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941352	0.93[ASN][1000 genomes]
rs10941353	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941356	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941358	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10941359	0.85[AMR][1000 genomes]
rs1126290	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11741504	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11742904	0.81[AMR][1000 genomes]
rs11748123	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11750256	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11949124	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11950295	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11954727	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11957813	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12152831	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12187311	0.87[ASN][1000 genomes]
rs12188106	0.87[ASN][1000 genomes]
rs12516955	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12519307	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12652433	0.80[ASN][1000 genomes]
rs12652658	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12653047	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12654893	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655908	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12658877	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1400851	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400853	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400854	0.86[AMR][1000 genomes]
rs1517785	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517788	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1533521	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1554278	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1589116	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903691	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1812818	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1812819	0.82[ASN][1000 genomes]
rs2088077	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2101786	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176478	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176479	0.81[AMR][1000 genomes]
rs3941788	0.82[AFR][1000 genomes]
rs4357062	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869438	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869439	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869440	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869527	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4869530	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869532	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869533	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869535	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869536	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869537	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869538	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs498254	0.89[ASN][1000 genomes]
rs55732996	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55742744	0.81[AMR][1000 genomes]
rs55794983	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55971490	0.82[ASN][1000 genomes]
rs56044522	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56100322	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56114410	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56145766	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56234447	0.96[ASN][1000 genomes]
rs56288111	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56832651	0.83[AMR][1000 genomes]
rs57015453	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57817568	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58969082	0.87[ASN][1000 genomes]
rs59696230	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60589722	0.81[AMR][1000 genomes]
rs61435914	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62359033	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62359036	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62359042	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62359058	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62360876	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451326	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6451329	0.81[AMR][1000 genomes]
rs6451330	0.81[AMR][1000 genomes]
rs6863936	0.81[AMR][1000 genomes]
rs6865231	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868428	0.81[AMR][1000 genomes]
rs6871844	0.91[ASN][1000 genomes]
rs6872681	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6874891	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876171	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879890	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881383	0.82[ASN][1000 genomes]
rs6883388	0.82[ASN][1000 genomes]
rs6887215	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6887613	0.81[AMR][1000 genomes]
rs6889616	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7704853	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705015	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705089	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713017	0.97[ASN][1000 genomes]
rs7715482	0.96[ASN][1000 genomes]
rs7716464	0.82[ASN][1000 genomes]
rs7718557	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7727807	0.96[ASN][1000 genomes]
rs9292656	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292662	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv881497	chr5:37539060-37604856	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37540000-37621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:37555000-37616200	Weak transcription	Aorta	Aorta
3	chr5:37572200-37620600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:37575600-37599600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:37575600-37611600	Weak transcription	Pancreas	Pancrea
6	chr5:37576000-37607800	Weak transcription	Left Ventricle	heart
7	chr5:37587800-37601200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:37588800-37628000	Weak transcription	Ovary	ovary
9	chr5:37590800-37599600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:37593400-37599800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:37593600-37600800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:37596800-37600800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:37597200-37599600	Weak transcription	Fetal Stomach	stomach
14	chr5:37597400-37600800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:37598800-37604600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:37599200-37600800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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