Variant report

Variant	rs11120063
Chromosome Location	chr1:213075025-213075026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10779596	0.93[ASN][1000 genomes]
rs10864024	0.98[ASN][1000 genomes]
rs10864030	0.93[ASN][1000 genomes]
rs12038555	0.95[ASN][1000 genomes]
rs12040492	0.95[ASN][1000 genomes]
rs12074192	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12075289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087098	0.87[ASN][1000 genomes]
rs12135746	0.93[ASN][1000 genomes]
rs12405742	0.90[ASN][1000 genomes]
rs12408694	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12760321	0.91[ASN][1000 genomes]
rs1284851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1284853	1.00[CEU][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]
rs1390501	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs15903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359323	0.93[ASN][1000 genomes]
rs2359326	0.98[ASN][1000 genomes]
rs2644549	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2792562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951650	0.93[ASN][1000 genomes]
rs4951651	0.93[ASN][1000 genomes]
rs58128459	1.00[ASN][1000 genomes]
rs6663574	0.91[ASN][1000 genomes]
rs6671740	0.84[ASN][1000 genomes]
rs6674782	0.84[ASN][1000 genomes]
rs6679775	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6682947	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6683314	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6697099	0.91[ASN][1000 genomes]
rs6697126	1.00[ASN][1000 genomes]
rs6701782	0.93[ASN][1000 genomes]
rs7530057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553536	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9429894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:213066400-213075400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:213067800-213076000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:213070000-213076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:213072200-213077000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr1:213072400-213075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:213073200-213079200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr1:213073200-213079400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr1:213073200-213079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr1:213073400-213075800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr1:213073600-213075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:213073600-213075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:213073600-213075400	Weak transcription	Ovary	ovary
13	chr1:213073600-213076400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:213073600-213079200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr1:213073800-213076200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:213073800-213079200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:213073800-213079200	Weak transcription	Right Atrium	heart
18	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
19	chr1:213074000-213075200	Weak transcription	NHDF-Ad	bronchial
20	chr1:213074000-213075400	Weak transcription	Left Ventricle	heart
21	chr1:213074400-213076600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:213074800-213076200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr1:213075000-213075200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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