Variant report

Variant	rs10465500
Chromosome Location	chr1:185881826-185881827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10047250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10449224	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465495	0.83[EUR][1000 genomes]
rs10465496	0.83[EUR][1000 genomes]
rs10465497	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489713	1.00[CHB][hapmap]
rs10489714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489715	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10911781	1.00[JPT][hapmap]
rs10911785	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10911789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10911790	1.00[ASN][1000 genomes]
rs1124756	1.00[CHB][hapmap]
rs11800990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11807146	1.00[JPT][hapmap]
rs12061058	0.83[EUR][1000 genomes]
rs12066427	0.83[EUR][1000 genomes]
rs12078444	1.00[JPT][hapmap]
rs12095309	1.00[ASN][1000 genomes]
rs12239922	0.83[EUR][1000 genomes]
rs12239929	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1321670	1.00[JPT][hapmap]
rs1321671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1321672	1.00[CHB][hapmap]
rs1321673	1.00[CHB][hapmap]
rs13374445	1.00[JPT][hapmap]
rs1407426	1.00[JPT][hapmap]
rs1407428	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1407429	1.00[JPT][hapmap]
rs1555494	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16824426	1.00[CHB][hapmap]
rs16824427	1.00[CHB][hapmap]
rs16824428	1.00[CHB][hapmap]
rs16824451	1.00[CHB][hapmap]
rs16824455	1.00[CHB][hapmap]
rs16824458	1.00[CHB][hapmap]
rs16824465	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16824488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16824497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16824524	1.00[CHB][hapmap]
rs16824576	1.00[JPT][hapmap]
rs16824736	0.83[EUR][1000 genomes]
rs16824741	0.83[EUR][1000 genomes]
rs17505819	1.00[JPT][hapmap]
rs1825398	1.00[CHB][hapmap]
rs1830622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1830623	1.00[ASN][1000 genomes]
rs1853247	1.00[ASN][1000 genomes]
rs2129125	1.00[JPT][hapmap]
rs2170858	1.00[ASN][1000 genomes]
rs2200266	1.00[CHB][hapmap]
rs55887884	1.00[ASN][1000 genomes]
rs55943726	0.83[EUR][1000 genomes]
rs56331179	1.00[ASN][1000 genomes]
rs57107751	1.00[ASN][1000 genomes]
rs57162167	1.00[ASN][1000 genomes]
rs57215320	1.00[ASN][1000 genomes]
rs57246058	1.00[ASN][1000 genomes]
rs57257586	1.00[ASN][1000 genomes]
rs57646829	1.00[ASN][1000 genomes]
rs57782754	1.00[ASN][1000 genomes]
rs58131117	1.00[ASN][1000 genomes]
rs58159343	1.00[ASN][1000 genomes]
rs58291464	1.00[ASN][1000 genomes]
rs58433773	1.00[ASN][1000 genomes]
rs58437418	1.00[ASN][1000 genomes]
rs58610258	1.00[ASN][1000 genomes]
rs59175860	1.00[ASN][1000 genomes]
rs59312002	1.00[ASN][1000 genomes]
rs59967839	1.00[ASN][1000 genomes]
rs60308365	1.00[ASN][1000 genomes]
rs60458315	1.00[ASN][1000 genomes]
rs60735946	1.00[ASN][1000 genomes]
rs61261990	1.00[ASN][1000 genomes]
rs61679640	1.00[ASN][1000 genomes]
rs61689983	1.00[ASN][1000 genomes]
rs6425001	1.00[ASN][1000 genomes]
rs6425004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6657554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6657683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6660510	1.00[JPT][hapmap]
rs6662653	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6667316	1.00[JPT][hapmap]
rs6671094	1.00[ASN][1000 genomes]
rs6675465	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6675691	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6676522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6676629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6676765	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6676937	1.00[CHB][hapmap]
rs6677167	1.00[CHB][hapmap]
rs6677183	1.00[ASN][1000 genomes]
rs6679816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6683809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6686816	1.00[ASN][1000 genomes]
rs6688298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6688369	1.00[ASN][1000 genomes]
rs6689359	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6690475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6690559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6690714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6696804	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6698721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6700856	1.00[ASN][1000 genomes]
rs726777	1.00[JPT][hapmap]
rs72703022	1.00[ASN][1000 genomes]
rs72703023	1.00[ASN][1000 genomes]
rs72718868	1.00[ASN][1000 genomes]
rs72718870	1.00[ASN][1000 genomes]
rs73054403	1.00[ASN][1000 genomes]
rs73054407	1.00[ASN][1000 genomes]
rs73058401	1.00[ASN][1000 genomes]
rs73060467	1.00[ASN][1000 genomes]
rs73060474	1.00[ASN][1000 genomes]
rs73062125	0.83[EUR][1000 genomes]
rs73062134	0.83[EUR][1000 genomes]
rs73062143	0.83[EUR][1000 genomes]
rs73062155	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062157	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062161	1.00[ASN][1000 genomes]
rs73062164	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062166	1.00[ASN][1000 genomes]
rs73062512	1.00[ASN][1000 genomes]
rs73062516	1.00[ASN][1000 genomes]
rs73070519	1.00[ASN][1000 genomes]
rs73070522	1.00[ASN][1000 genomes]
rs73070547	1.00[ASN][1000 genomes]
rs73070548	1.00[ASN][1000 genomes]
rs73070567	1.00[ASN][1000 genomes]
rs73070598	1.00[ASN][1000 genomes]
rs73072056	1.00[ASN][1000 genomes]
rs73072077	1.00[ASN][1000 genomes]
rs74135350	1.00[ASN][1000 genomes]
rs74135351	1.00[ASN][1000 genomes]
rs7517811	1.00[ASN][1000 genomes]
rs7519398	1.00[ASN][1000 genomes]
rs7521401	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7532062	1.00[ASN][1000 genomes]
rs7532431	1.00[ASN][1000 genomes]
rs7540698	1.00[CHB][hapmap]
rs7540727	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7540773	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7541361	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7544162	1.00[ASN][1000 genomes]
rs7544533	1.00[JPT][hapmap]
rs7544808	1.00[ASN][1000 genomes]
rs7546152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7547368	1.00[ASN][1000 genomes]
rs7547380	1.00[CHB][hapmap]
rs7555536	1.00[ASN][1000 genomes]
rs959689	1.00[CHB][hapmap]
rs959690	1.00[CHB][hapmap]
rs9628626	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9628634	1.00[ASN][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185875600-185895800	Weak transcription	NHDF-Ad	bronchial
2	chr1:185877000-185894200	Weak transcription	Fetal Lung	lung
3	chr1:185877800-185904400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:185878400-185883200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:185880000-185883200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:185880600-185884200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:185880600-185884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:185880800-185882000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:185880800-185882000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:185880800-185882800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:185880800-185883600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:185881200-185882000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:185881200-185882600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:185881400-185882200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:185881400-185882600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:185881600-185882000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:185881600-185898800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:185881800-185882000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:185881800-185882000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:185881800-185882000	Enhancers	Aorta	Aorta
21	chr1:185881800-185882200	Enhancers	HUVEC	blood vessel
22	chr1:185881800-185882600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:185881800-185883600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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