Variant report

Variant	rs2047858
Chromosome Location	chr4:127719421-127719422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
2	chr4:127718291..127720772-chr4:127873279..127876126,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10434047	0.83[ASN][1000 genomes]
rs11098903	0.90[AMR][1000 genomes]
rs11098904	0.93[AMR][1000 genomes]
rs1167192	0.82[ASN][1000 genomes]
rs12054615	1.00[ASN][1000 genomes]
rs12640034	0.90[AMR][1000 genomes]
rs12641500	0.88[ASN][1000 genomes]
rs12642270	1.00[AFR][1000 genomes]
rs12642562	0.94[ASN][1000 genomes]
rs12642699	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12642936	0.93[AMR][1000 genomes]
rs12645504	0.88[AMR][1000 genomes]
rs12646183	0.84[AMR][1000 genomes]
rs12648133	0.89[ASN][1000 genomes]
rs12649338	0.93[AMR][1000 genomes]
rs12650738	0.83[ASN][1000 genomes]
rs12651411	0.89[ASN][1000 genomes]
rs13130797	0.80[ASN][1000 genomes]
rs13151312	0.83[ASN][1000 genomes]
rs1397436	0.84[AMR][1000 genomes]
rs1491136	0.83[ASN][1000 genomes]
rs1491137	0.83[ASN][1000 genomes]
rs1503620	0.83[ASN][1000 genomes]
rs16997936	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16997962	0.84[AMR][1000 genomes]
rs17011495	0.84[ASN][1000 genomes]
rs17011663	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17011712	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17011820	0.93[AMR][1000 genomes]
rs17011824	0.93[AMR][1000 genomes]
rs17011836	0.93[AMR][1000 genomes]
rs17011894	0.93[AMR][1000 genomes]
rs17011898	0.93[AMR][1000 genomes]
rs1910441	0.83[JPT][hapmap]
rs2008243	0.83[ASN][1000 genomes]
rs2174183	0.83[ASN][1000 genomes]
rs2203012	0.93[AMR][1000 genomes]
rs2391096	0.90[AMR][1000 genomes]
rs28854355	1.00[AFR][1000 genomes]
rs4146615	1.00[AFR][1000 genomes]
rs56654496	0.97[ASN][1000 genomes]
rs56949181	1.00[AFR][1000 genomes]
rs57220017	0.93[AMR][1000 genomes]
rs57259679	0.90[ASN][1000 genomes]
rs58011980	0.88[AMR][1000 genomes]
rs58035425	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58743449	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59019179	1.00[AFR][1000 genomes]
rs59319887	1.00[AFR][1000 genomes]
rs60210181	0.93[AMR][1000 genomes]
rs60595161	0.89[ASN][1000 genomes]
rs60662614	0.84[AMR][1000 genomes]
rs60715791	0.89[ASN][1000 genomes]
rs61031744	0.99[ASN][1000 genomes]
rs61594384	1.00[AFR][1000 genomes]
rs61613462	0.99[ASN][1000 genomes]
rs6817065	0.83[ASN][1000 genomes]
rs6833901	0.93[EUR][1000 genomes]
rs6840212	1.00[AFR][1000 genomes]
rs6840324	1.00[AFR][1000 genomes]
rs6856633	0.96[EUR][1000 genomes]
rs73846080	0.80[ASN][1000 genomes]
rs73846081	0.80[ASN][1000 genomes]
rs73846082	0.80[ASN][1000 genomes]
rs73846083	0.80[ASN][1000 genomes]
rs7660412	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7679060	1.00[AFR][1000 genomes]
rs7683495	0.90[ASN][1000 genomes]
rs7697724	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv818269	chr4:127700428-127727154	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127712200-127720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:127715600-127720600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:127715800-127720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:127715800-127720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:127715800-127721000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:127715800-127721000	Weak transcription	Fetal Heart	heart
7	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:127716200-127721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:127716400-127721000	Weak transcription	NHEK	skin
10	chr4:127718800-127721000	Weak transcription	K562	blood

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