Variant report

Variant	rs1517786
Chromosome Location	chr5:37658353-37658354
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10062316	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1013398	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs10473055	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10805627	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10941344	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs10941345	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs10941347	0.91[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10941348	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10941349	0.92[EUR][1000 genomes]
rs10941350	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10941351	0.96[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10941352	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10941353	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10941356	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10941358	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941359	1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs11739400	0.97[ASN][1000 genomes]
rs11740897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11741504	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11742904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11745980	0.97[ASN][1000 genomes]
rs11747548	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs11747900	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11749563	0.85[ASN][1000 genomes]
rs11750256	0.90[EUR][1000 genomes]
rs11750837	0.94[ASN][1000 genomes]
rs11750840	0.94[ASN][1000 genomes]
rs11950295	0.96[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11954727	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs11957813	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs12152831	0.83[CHB][hapmap]
rs12187311	0.88[EUR][1000 genomes]
rs12188106	0.87[EUR][1000 genomes]
rs12189078	0.89[ASN][1000 genomes]
rs12332088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12516955	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12519307	0.95[EUR][1000 genomes]
rs12520944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12521063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12654893	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs12655908	0.83[CHB][hapmap]
rs1356433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400851	0.92[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1400853	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1400854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1517785	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs1517788	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1554278	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs1589116	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs1589119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16903691	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1996427	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2088077	0.83[CHB][hapmap]
rs2101786	0.83[CHB][hapmap]
rs2176479	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242251	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4257799	0.86[ASN][1000 genomes]
rs4343860	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4357062	0.96[CEU][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4371784	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4451075	0.89[ASN][1000 genomes]
rs4482927	0.95[ASN][1000 genomes]
rs4516881	0.95[ASN][1000 genomes]
rs4516882	0.94[ASN][1000 genomes]
rs4541680	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4582305	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4594879	0.89[ASN][1000 genomes]
rs4608942	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4618454	0.92[ASN][1000 genomes]
rs4869438	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4869439	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4869530	0.83[CHB][hapmap]
rs4869532	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4869533	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4869535	0.96[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4869536	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4869537	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4869538	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs4869541	0.97[ASN][1000 genomes]
rs4869543	0.92[ASN][1000 genomes]
rs55708822	0.94[ASN][1000 genomes]
rs55732996	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55742744	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55849485	0.86[ASN][1000 genomes]
rs56007806	1.00[ASN][1000 genomes]
rs56051431	0.94[ASN][1000 genomes]
rs56051756	0.94[ASN][1000 genomes]
rs56100322	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56114410	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56234447	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56288111	0.80[EUR][1000 genomes]
rs56412589	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56832651	0.99[ASN][1000 genomes]
rs57817568	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59378089	0.92[ASN][1000 genomes]
rs59409868	0.99[ASN][1000 genomes]
rs59696230	0.90[EUR][1000 genomes]
rs59829323	0.94[ASN][1000 genomes]
rs60589722	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61492379	0.89[ASN][1000 genomes]
rs62360876	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62360907	0.90[ASN][1000 genomes]
rs62360910	0.94[ASN][1000 genomes]
rs6451326	0.92[EUR][1000 genomes]
rs6451329	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451330	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451333	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451337	0.94[ASN][1000 genomes]
rs6451339	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6863936	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6864924	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6865231	0.92[EUR][1000 genomes]
rs6868428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871844	0.86[EUR][1000 genomes]
rs6874891	0.96[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6876171	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6879890	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6884551	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6884569	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6885057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6885329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6887215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887613	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889616	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72743184	0.87[ASN][1000 genomes]
rs7702644	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7703775	0.85[ASN][1000 genomes]
rs7704853	0.92[EUR][1000 genomes]
rs7705015	0.92[EUR][1000 genomes]
rs7705089	0.92[EUR][1000 genomes]
rs7713017	1.00[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7715482	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7718557	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7725465	0.97[ASN][1000 genomes]
rs7727807	1.00[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9292656	0.96[CEU][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9292662	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37647000-37665400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:37648000-37666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:37654600-37671800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:37655800-37663800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:37656000-37662200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:37656600-37671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:37656800-37661200	Weak transcription	Fetal Stomach	stomach
8	chr5:37657200-37661600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:37657400-37661200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:37658000-37659800	Enhancers	HepG2	liver
11	chr5:37658200-37658400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:37658200-37658800	Enhancers	Liver	Liver
13	chr5:37658200-37658800	Enhancers	NHEK	skin
14	chr5:37658200-37659000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:37658200-37659000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:37658200-37659000	Enhancers	HMEC	breast
17	chr5:37658200-37659200	Enhancers	A549	lung
18	chr5:37658200-37659800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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