Variant report

Variant	rs34972893
Chromosome Location	chr13:50851083-50851084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11842790	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12853498	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12855386	1.00[ASN][1000 genomes]
rs12867018	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12871645	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874278	1.00[ASN][1000 genomes]
rs12874827	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12876227	1.00[ASN][1000 genomes]
rs17074093	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074141	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074143	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074145	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363026	1.00[ASN][1000 genomes]
rs17363566	1.00[ASN][1000 genomes]
rs2066664	1.00[ASN][1000 genomes]
rs2066673	1.00[ASN][1000 genomes]
rs2066679	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095158	0.87[ASN][1000 genomes]
rs3095160	0.87[ASN][1000 genomes]
rs3095164	0.87[ASN][1000 genomes]
rs3095165	0.87[ASN][1000 genomes]
rs3116594	0.87[ASN][1000 genomes]
rs3116595	0.87[ASN][1000 genomes]
rs3118648	0.87[ASN][1000 genomes]
rs3118649	0.87[ASN][1000 genomes]
rs3118650	0.87[ASN][1000 genomes]
rs34042295	1.00[ASN][1000 genomes]
rs34357487	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34374535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453016	1.00[ASN][1000 genomes]
rs34556868	1.00[ASN][1000 genomes]
rs34700115	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712361	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35299189	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35383320	1.00[ASN][1000 genomes]
rs35413012	1.00[ASN][1000 genomes]
rs35542898	1.00[ASN][1000 genomes]
rs35650342	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35902227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980102	1.00[ASN][1000 genomes]
rs67217502	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67964536	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706603	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71428294	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436217	1.00[ASN][1000 genomes]
rs71436218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436222	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7990202	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806315	1.00[ASN][1000 genomes]
rs806318	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50842200-50851400	Weak transcription	Aorta	Aorta
2	chr13:50842600-50851400	Weak transcription	HepG2	liver
3	chr13:50846800-50851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50850400-50851600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:50850400-50851800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:50850400-50851800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:50850600-50851400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:50850600-50851600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:50850600-50851600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:50851000-50851400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:50851000-50851600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:50851000-50851600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:50851000-50851800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:50851000-50852200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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