Variant report

Variant	rs6696804
Chromosome Location	chr1:185742967-185742968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185735098..185737395-chr1:185742780..185745714,2	K562	blood:
2	chr1:185723336..185726136-chr1:185742390..185744903,2	K562	blood:
3	chr1:185740680..185743818-chr1:185776968..185780042,3	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10047250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10449224	1.00[ASN][1000 genomes]
rs10465497	1.00[ASN][1000 genomes]
rs10465500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489713	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs10489714	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]
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]
rs1124755	1.00[EUR][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]
rs12078444	1.00[JPT][hapmap]
rs12095309	1.00[ASN][1000 genomes]
rs12164583	1.00[EUR][1000 genomes]
rs12239002	1.00[MEX][hapmap]
rs12239929	1.00[JPT][hapmap]
rs1321670	1.00[JPT][hapmap]
rs1321671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][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];1.00[EUR][1000 genomes]
rs16824428	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs16824451	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs16824455	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs16824458	1.00[CHB][hapmap]
rs16824465	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][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]
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]
rs17505819	1.00[JPT][hapmap]
rs1825398	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
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]
rs28666501	1.00[EUR][1000 genomes]
rs28754345	1.00[EUR][1000 genomes]
rs55683049	1.00[EUR][1000 genomes]
rs55887884	1.00[ASN][1000 genomes]
rs55954704	1.00[EUR][1000 genomes]
rs56331179	1.00[ASN][1000 genomes]
rs57107751	1.00[ASN][1000 genomes]
rs57123319	1.00[EUR][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]
rs57775662	1.00[EUR][1000 genomes]
rs57782754	1.00[ASN][1000 genomes]
rs58131117	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58135888	1.00[EUR][1000 genomes]
rs58140638	1.00[EUR][1000 genomes]
rs58159343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58291464	1.00[ASN][1000 genomes]
rs58433773	1.00[ASN][1000 genomes]
rs58437418	1.00[ASN][1000 genomes]
rs58449767	1.00[EUR][1000 genomes]
rs58597777	1.00[EUR][1000 genomes]
rs58609803	1.00[EUR][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]
rs60134058	1.00[EUR][1000 genomes]
rs60308365	1.00[ASN][1000 genomes]
rs60458315	1.00[ASN][1000 genomes]
rs60735946	1.00[ASN][1000 genomes]
rs61088604	1.00[EUR][1000 genomes]
rs61103306	1.00[EUR][1000 genomes]
rs61261990	1.00[ASN][1000 genomes]
rs61315386	1.00[EUR][1000 genomes]
rs61679640	1.00[ASN][1000 genomes]
rs61689983	1.00[ASN][1000 genomes]
rs6425001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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]
rs6425006	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6657554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6676765	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676937	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
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]
rs6685093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6686790	1.00[EUR][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]
rs6689228	1.00[MEX][hapmap]
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];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[ASN][1000 genomes]
rs6690714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6698721	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060462	1.00[EUR][1000 genomes]
rs73060467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062155	1.00[ASN][1000 genomes]
rs73062157	1.00[ASN][1000 genomes]
rs73062161	1.00[ASN][1000 genomes]
rs73062164	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]
rs73070601	1.00[EUR][1000 genomes]
rs73072006	1.00[EUR][1000 genomes]
rs73072009	1.00[EUR][1000 genomes]
rs73072046	1.00[EUR][1000 genomes]
rs73072051	1.00[EUR][1000 genomes]
rs73072052	1.00[EUR][1000 genomes]
rs73072056	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072059	1.00[EUR][1000 genomes]
rs73072077	1.00[ASN][1000 genomes]
rs74133680	1.00[EUR][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]
rs7540727	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7540773	1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[ASN][1000 genomes]
rs7541361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];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	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554996	1.00[MEX][hapmap]
rs7555536	1.00[ASN][1000 genomes]
rs959689	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs959690	1.00[CHB][hapmap]
rs9628626	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185730200-185745000	Weak transcription	Fetal Kidney	kidney
2	chr1:185735600-185743400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:185736000-185747000	Weak transcription	Aorta	Aorta
4	chr1:185737000-185744600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:185737800-185758800	Weak transcription	Fetal Lung	lung
6	chr1:185740600-185743400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:185741200-185743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:185742400-185744000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:185742800-185744400	Weak transcription	Fetal Heart	heart

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