Variant report

Variant	rs2423734
Chromosome Location	chr20:13630625-13630626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1040756	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11087055	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13040087	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2057259	0.84[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2070307	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs2070308	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs2180569	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2295503	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295504	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2327793	0.92[ASN][1000 genomes]
rs2423729	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs2423730	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs2423731	0.85[AFR][1000 genomes]
rs2423732	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2423733	0.94[ASN][1000 genomes]
rs2423736	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2423737	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2423738	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2423739	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34146992	0.90[ASN][1000 genomes]
rs34822601	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4303776	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4441543	0.88[ASN][1000 genomes]
rs6033766	0.91[ASN][1000 genomes]
rs6033767	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6033768	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6033777	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs6033783	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6033793	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6033795	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6042225	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6042235	0.81[ASN][1000 genomes]
rs6042236	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6042239	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6042240	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6042255	0.91[YRI][hapmap]
rs6042263	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs6042264	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6042266	0.85[AFR][1000 genomes]
rs6042273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6042285	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6042301	0.93[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6105137	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6105142	0.80[AFR][1000 genomes]
rs6109983	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6109990	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6109993	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6109995	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6131499	0.87[ASN][1000 genomes]
rs6134919	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs6134930	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6134935	0.91[ASN][1000 genomes]
rs6134948	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6514418	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][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:24 , 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	chr20:13629000-13630800	Enhancers	Fetal Muscle Trunk	muscle
5	chr20:13629000-13631000	Enhancers	Fetal Stomach	stomach
6	chr20:13629200-13631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr20:13629200-13631600	Enhancers	Fetal Lung	lung
8	chr20:13629400-13631000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr20:13629400-13631600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr20:13629600-13631000	Weak transcription	Fetal Brain Female	brain
11	chr20:13629800-13631400	Weak transcription	Spleen	Spleen
12	chr20:13630000-13631000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:13630000-13631000	Enhancers	Ovary	ovary
14	chr20:13630000-13631200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr20:13630000-13631400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr20:13630000-13631600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr20:13630000-13631600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:13630000-13631600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:13630000-13631800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr20:13630200-13630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:13630200-13630800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:13630200-13631000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr20:13630400-13631000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:13630400-13631000	Enhancers	Stomach Smooth Muscle	stomach

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