Variant report

Variant	rs6042275
Chromosome Location	chr20:13631015-13631016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1024208	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1028849	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12329620	1.00[CEU][hapmap]
rs12479594	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12479746	1.00[ASN][1000 genomes]
rs12480131	1.00[ASN][1000 genomes]
rs12480277	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12480426	1.00[ASN][1000 genomes]
rs12480587	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12481107	1.00[ASN][1000 genomes]
rs13038057	0.84[EUR][1000 genomes]
rs13041895	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13045616	0.84[EUR][1000 genomes]
rs16994022	1.00[ASW][hapmap]
rs16994088	0.84[EUR][1000 genomes]
rs16994094	0.84[EUR][1000 genomes]
rs16994097	0.84[EUR][1000 genomes]
rs2180570	1.00[ASN][1000 genomes]
rs34527054	0.84[EUR][1000 genomes]
rs34892632	0.84[EUR][1000 genomes]
rs35023928	0.81[EUR][1000 genomes]
rs35026915	0.84[EUR][1000 genomes]
rs35114574	0.81[EUR][1000 genomes]
rs35652905	0.84[EUR][1000 genomes]
rs35875212	0.84[EUR][1000 genomes]
rs6033712	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6033718	1.00[JPT][hapmap]
rs6033782	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6033802	1.00[ASN][1000 genomes]
rs6042130	1.00[JPT][hapmap]
rs6042136	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6042142	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042143	1.00[ASN][1000 genomes]
rs6042152	1.00[ASN][1000 genomes]
rs6042154	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042212	1.00[JPT][hapmap]
rs6042234	1.00[ASN][1000 genomes]
rs6042241	1.00[ASN][1000 genomes]
rs6042242	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042248	1.00[ASN][1000 genomes]
rs6042249	1.00[ASN][1000 genomes]
rs6042274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042284	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60686384	1.00[ASN][1000 genomes]
rs6079117	1.00[ASN][1000 genomes]
rs6105108	1.00[JPT][hapmap]
rs6105109	1.00[JPT][hapmap]
rs6105111	1.00[ASN][1000 genomes]
rs6105146	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109895	1.00[JPT][hapmap]
rs6109896	1.00[JPT][hapmap]
rs6109901	1.00[JPT][hapmap]
rs6109904	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109972	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109985	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs61518689	1.00[ASN][1000 genomes]
rs62207643	0.81[EUR][1000 genomes]
rs62207644	0.81[EUR][1000 genomes]
rs7274078	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73254604	1.00[ASN][1000 genomes]
rs73270770	1.00[ASN][1000 genomes]
rs73899330	1.00[ASN][1000 genomes]
rs74178049	0.81[EUR][1000 genomes]
rs74178050	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr20:13620200-13634800	Weak transcription	Right Atrium	heart
2	chr20:13625800-13631400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:13628800-13631600	Enhancers	Fetal Muscle Leg	muscle
4	chr20:13629200-13631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr20:13629200-13631600	Enhancers	Fetal Lung	lung
6	chr20:13629400-13631600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:13629800-13631400	Weak transcription	Spleen	Spleen
8	chr20:13630000-13631200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:13630000-13631400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:13630000-13631600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr20:13630000-13631600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr20:13630000-13631600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr20:13630000-13631800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:13631000-13633600	Weak transcription	Fetal Stomach	stomach

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