Variant report

Variant	rs62176024
Chromosome Location	chr2:179918120-179918121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10497530	0.97[EUR][1000 genomes]
rs10497531	0.89[EUR][1000 genomes]
rs10497532	0.89[EUR][1000 genomes]
rs11883598	0.89[EUR][1000 genomes]
rs11883599	0.89[EUR][1000 genomes]
rs11883748	0.97[EUR][1000 genomes]
rs11885227	0.89[EUR][1000 genomes]
rs11885400	0.89[EUR][1000 genomes]
rs11885450	0.89[EUR][1000 genomes]
rs11886627	0.88[EUR][1000 genomes]
rs11887988	0.89[EUR][1000 genomes]
rs11888041	0.81[EUR][1000 genomes]
rs11890988	0.89[EUR][1000 genomes]
rs11891599	0.89[EUR][1000 genomes]
rs11891608	0.89[EUR][1000 genomes]
rs11891654	0.89[EUR][1000 genomes]
rs11892227	0.99[EUR][1000 genomes]
rs11893153	0.89[EUR][1000 genomes]
rs11893315	0.99[EUR][1000 genomes]
rs11895391	0.89[EUR][1000 genomes]
rs11896002	0.89[EUR][1000 genomes]
rs11896686	0.88[EUR][1000 genomes]
rs11897059	0.89[EUR][1000 genomes]
rs11899563	0.97[EUR][1000 genomes]
rs11901386	0.89[EUR][1000 genomes]
rs11901918	0.89[EUR][1000 genomes]
rs11902355	0.97[EUR][1000 genomes]
rs11903793	0.89[EUR][1000 genomes]
rs12467652	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474600	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866624	0.89[EUR][1000 genomes]
rs17362972	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17363006	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363057	0.89[EUR][1000 genomes]
rs1875779	0.97[EUR][1000 genomes]
rs1875782	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34190485	0.81[EUR][1000 genomes]
rs35465824	0.86[EUR][1000 genomes]
rs35888089	0.89[EUR][1000 genomes]
rs35979436	0.87[EUR][1000 genomes]
rs4435492	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893864	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4991006	0.97[EUR][1000 genomes]
rs61397643	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175366	0.99[EUR][1000 genomes]
rs62175367	0.99[EUR][1000 genomes]
rs62175401	0.92[EUR][1000 genomes]
rs62175402	0.94[EUR][1000 genomes]
rs62175403	0.94[EUR][1000 genomes]
rs62175411	0.89[EUR][1000 genomes]
rs62175420	0.89[EUR][1000 genomes]
rs62175421	0.89[EUR][1000 genomes]
rs62175422	0.89[EUR][1000 genomes]
rs62175444	0.89[EUR][1000 genomes]
rs62175990	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175993	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175994	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175995	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176021	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176026	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62176027	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176028	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62176030	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433747	0.89[EUR][1000 genomes]
rs6433748	0.89[EUR][1000 genomes]
rs6433749	0.89[EUR][1000 genomes]
rs6433750	0.89[EUR][1000 genomes]
rs6433751	0.89[EUR][1000 genomes]
rs6433752	0.89[EUR][1000 genomes]
rs6709090	0.97[EUR][1000 genomes]
rs6716599	0.99[EUR][1000 genomes]
rs6716713	0.99[EUR][1000 genomes]
rs6716728	0.99[EUR][1000 genomes]
rs6731564	0.88[EUR][1000 genomes]
rs6731566	0.82[EUR][1000 genomes]
rs6734597	0.97[EUR][1000 genomes]
rs7574853	0.89[EUR][1000 genomes]
rs7575047	0.89[EUR][1000 genomes]
rs7578521	0.89[EUR][1000 genomes]
rs7578961	0.89[EUR][1000 genomes]
rs7579263	0.89[EUR][1000 genomes]
rs7582862	0.89[EUR][1000 genomes]
rs7588765	0.89[EUR][1000 genomes]
rs7596842	0.89[EUR][1000 genomes]
rs7601179	0.89[EUR][1000 genomes]
rs7609150	0.89[EUR][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179915200-179923000	Weak transcription	Right Atrium	heart
2	chr2:179916200-179922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179916200-179922400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:179916400-179918200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:179916400-179918400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:179916400-179921200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:179916400-179921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:179916400-179922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:179916400-179922600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:179916400-179922600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:179916400-179922600	Weak transcription	Right Ventricle	heart
12	chr2:179916400-179922800	Weak transcription	Gastric	stomach
13	chr2:179916400-179923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:179917000-179918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:179917000-179922200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:179917000-179922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179917000-179922800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:179917400-179918200	Enhancers	Fetal Heart	heart
19	chr2:179917400-179922400	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:179917400-179922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:179917400-179922800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:179918000-179918200	Enhancers	Spleen	Spleen
23	chr2:179918000-179918600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:179918000-179921800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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