Variant report

Variant	rs3011990
Chromosome Location	chr1:76692701-76692702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10782606	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10873867	1.00[JPT][hapmap]
rs10873869	1.00[JPT][hapmap]
rs10873870	0.87[ASN][1000 genomes]
rs11162090	1.00[JPT][hapmap]
rs11162091	0.89[JPT][hapmap]
rs11162092	0.89[JPT][hapmap]
rs12048024	1.00[JPT][hapmap]
rs12048928	0.89[JPT][hapmap]
rs1414403	1.00[JPT][hapmap]
rs1414406	1.00[JPT][hapmap]
rs1473472	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1486931	1.00[JPT][hapmap]
rs1486933	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1486934	0.89[JPT][hapmap]
rs1486935	0.89[JPT][hapmap]
rs1591472	0.89[JPT][hapmap]
rs1601640	0.85[JPT][hapmap]
rs1999734	1.00[JPT][hapmap]
rs2065795	0.87[ASN][1000 genomes]
rs2783985	0.89[JPT][hapmap]
rs370016	1.00[JPT][hapmap]
rs370808	0.89[JPT][hapmap]
rs393933	0.89[JPT][hapmap]
rs402394	1.00[JPT][hapmap]
rs404652	0.89[JPT][hapmap]
rs409979	0.88[JPT][hapmap]
rs413350	1.00[JPT][hapmap]
rs425110	0.89[JPT][hapmap]
rs442486	0.89[JPT][hapmap]
rs448003	0.86[JPT][hapmap]
rs450133	1.00[JPT][hapmap]
rs472536	0.88[JPT][hapmap]
rs473380	1.00[JPT][hapmap]
rs479650	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482598	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs483441	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949696	0.89[JPT][hapmap]
rs501426	0.88[JPT][hapmap]
rs503329	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519797	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs527974	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531773	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533097	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536913	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs560520	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569850	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572623	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs573657	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs580928	1.00[JPT][hapmap]
rs638593	1.00[JPT][hapmap]
rs6671258	0.87[ASN][1000 genomes]
rs6674758	0.87[ASN][1000 genomes]
rs7414129	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1008763	chr1:76692057-76723417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1001452	chr1:76692057-76724652	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76687400-76695000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76689000-76693800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:76690000-76694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:76692000-76694400	Weak transcription	HUVEC	blood vessel
5	chr1:76692200-76693000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:76692200-76693000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:76692200-76693800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:76692200-76696000	Enhancers	Fetal Thymus	thymus
9	chr1:76692400-76693000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:76692400-76695600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:76692400-76698200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:76692600-76693000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:76692600-76698000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:76692600-76698200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:76692600-76698400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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