Variant report

Variant	rs11580628
Chromosome Location	chr1:79458622-79458623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10127633	1.00[EUR][1000 genomes]
rs10157100	1.00[EUR][1000 genomes]
rs10157101	1.00[EUR][1000 genomes]
rs10157118	1.00[EUR][1000 genomes]
rs1048361	0.94[EUR][1000 genomes]
rs10782672	0.93[ASN][1000 genomes]
rs11162575	1.00[EUR][1000 genomes]
rs11162576	1.00[EUR][1000 genomes]
rs11162578	1.00[EUR][1000 genomes]
rs11162579	1.00[EUR][1000 genomes]
rs11162582	1.00[EUR][1000 genomes]
rs11578886	1.00[EUR][1000 genomes]
rs11579537	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11581046	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11584172	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585250	1.00[EUR][1000 genomes]
rs11589071	1.00[EUR][1000 genomes]
rs12022724	0.94[EUR][1000 genomes]
rs12023385	1.00[EUR][1000 genomes]
rs12023956	0.97[EUR][1000 genomes]
rs12024704	1.00[EUR][1000 genomes]
rs12026854	1.00[EUR][1000 genomes]
rs12028201	0.97[EUR][1000 genomes]
rs12029928	1.00[EUR][1000 genomes]
rs12036315	1.00[EUR][1000 genomes]
rs12041776	0.94[EUR][1000 genomes]
rs12042046	1.00[EUR][1000 genomes]
rs12044660	1.00[EUR][1000 genomes]
rs12045470	1.00[EUR][1000 genomes]
rs12047525	1.00[EUR][1000 genomes]
rs12047963	1.00[EUR][1000 genomes]
rs12048362	1.00[EUR][1000 genomes]
rs12048990	0.94[EUR][1000 genomes]
rs12049419	0.94[EUR][1000 genomes]
rs12240096	1.00[EUR][1000 genomes]
rs12402323	0.93[ASN][1000 genomes]
rs12404123	1.00[EUR][1000 genomes]
rs12405227	1.00[EUR][1000 genomes]
rs12405579	1.00[EUR][1000 genomes]
rs12405826	1.00[EUR][1000 genomes]
rs1489383	1.00[EUR][1000 genomes]
rs1552569	1.00[EUR][1000 genomes]
rs1552570	1.00[EUR][1000 genomes]
rs17102430	1.00[EUR][1000 genomes]
rs17102432	1.00[EUR][1000 genomes]
rs17102465	1.00[EUR][1000 genomes]
rs17102512	1.00[EUR][1000 genomes]
rs17102538	1.00[EUR][1000 genomes]
rs17102541	1.00[EUR][1000 genomes]
rs17102547	1.00[EUR][1000 genomes]
rs1906831	1.00[EUR][1000 genomes]
rs1906832	1.00[EUR][1000 genomes]
rs2882991	1.00[EUR][1000 genomes]
rs34763897	1.00[EUR][1000 genomes]
rs3811438	1.00[EUR][1000 genomes]
rs41312732	0.97[EUR][1000 genomes]
rs4271160	1.00[EUR][1000 genomes]
rs4376689	1.00[EUR][1000 genomes]
rs4650621	1.00[EUR][1000 genomes]
rs4650622	1.00[EUR][1000 genomes]
rs4650623	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56828724	1.00[EUR][1000 genomes]
rs59554507	1.00[EUR][1000 genomes]
rs6657515	1.00[EUR][1000 genomes]
rs6678427	1.00[EUR][1000 genomes]
rs6699540	1.00[EUR][1000 genomes]
rs7526334	1.00[EUR][1000 genomes]
rs7527803	0.93[ASN][1000 genomes]
rs7527882	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7527890	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1001894	chr1:79351364-79542576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv535014	chr1:79351364-79542576	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871089	chr1:79353655-79471959	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv546623	chr1:79374579-79509109	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv871564	chr1:79382009-79471959	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv871525	chr1:79403335-79518810	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv871613	chr1:79407980-79471959	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv871276	chr1:79407980-79520554	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv470720	chr1:79411764-79491206	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv870769	chr1:79420491-79491206	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv871645	chr1:79431407-79501129	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79455200-79466000	Strong transcription	HUVEC	blood vessel
2	chr1:79455400-79460800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:79457600-79462600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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