Variant report

Variant	rs11211347
Chromosome Location	chr1:47193731-47193732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10890410	0.86[ASN][1000 genomes]
rs10890414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11801744	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12060032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12092360	0.86[ASN][1000 genomes]
rs12568734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2241863	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2241864	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2439442	0.82[ASN][1000 genomes]
rs2476157	0.80[ASN][1000 genomes]
rs2486160	0.80[ASN][1000 genomes]
rs3766218	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3766220	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3766221	0.87[ASN][1000 genomes]
rs3766222	0.86[ASN][1000 genomes]
rs3766223	0.86[ASN][1000 genomes]
rs56771521	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57495753	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs582269	0.82[ASN][1000 genomes]
rs582323	0.80[ASN][1000 genomes]
rs582760	0.82[ASN][1000 genomes]
rs583649	0.80[ASN][1000 genomes]
rs58678760	0.86[ASN][1000 genomes]
rs58920789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59479990	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs596794	0.82[ASN][1000 genomes]
rs597221	0.82[ASN][1000 genomes]
rs60239027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs604233	0.80[ASN][1000 genomes]
rs611919	0.82[ASN][1000 genomes]
rs629412	0.80[ASN][1000 genomes]
rs631368	0.80[ASN][1000 genomes]
rs636082	0.82[ASN][1000 genomes]
rs636424	0.82[ASN][1000 genomes]
rs654544	0.82[ASN][1000 genomes]
rs655369	0.82[ASN][1000 genomes]
rs657166	0.82[ASN][1000 genomes]
rs669647	0.86[ASN][1000 genomes]
rs673134	0.82[ASN][1000 genomes]
rs689300	0.82[ASN][1000 genomes]
rs72900715	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9094	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak 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	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47185800-47194000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:47185800-47194200	Weak transcription	Right Atrium	heart
3	chr1:47191000-47193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47191000-47194000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:47191000-47194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:47191000-47194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47192000-47194000	Weak transcription	Placenta	Placenta
8	chr1:47192200-47194000	Weak transcription	HepG2	liver

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