Variant report

Variant	rs58743449
Chromosome Location	chr4:127701941-127701942
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	chr4:127699741..127703647-chr4:127875173..127879234,5	K562	blood:
2	chr4:127699715..127702896-chr4:127704901..127707141,5	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10434047	0.82[ASN][1000 genomes]
rs11098904	0.82[AMR][1000 genomes]
rs1167192	0.83[ASN][1000 genomes]
rs12054615	0.99[ASN][1000 genomes]
rs12641500	0.87[ASN][1000 genomes]
rs12642270	1.00[AFR][1000 genomes]
rs12642562	0.93[ASN][1000 genomes]
rs12642699	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12642936	0.82[AMR][1000 genomes]
rs12648133	0.88[ASN][1000 genomes]
rs12649338	0.82[AMR][1000 genomes]
rs12650738	0.84[ASN][1000 genomes]
rs12651411	0.88[ASN][1000 genomes]
rs13151312	0.84[ASN][1000 genomes]
rs1491136	0.84[ASN][1000 genomes]
rs1491137	0.84[ASN][1000 genomes]
rs1503620	0.84[ASN][1000 genomes]
rs16997936	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17011495	0.85[ASN][1000 genomes]
rs17011663	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17011712	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17011820	0.82[AMR][1000 genomes]
rs17011824	0.82[AMR][1000 genomes]
rs17011836	0.82[AMR][1000 genomes]
rs17011894	0.82[AMR][1000 genomes]
rs17011898	0.82[AMR][1000 genomes]
rs2008243	0.84[ASN][1000 genomes]
rs2047858	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2174183	0.84[ASN][1000 genomes]
rs2203012	0.82[AMR][1000 genomes]
rs28854355	1.00[AFR][1000 genomes]
rs4146615	1.00[AFR][1000 genomes]
rs56654496	0.98[ASN][1000 genomes]
rs56949181	1.00[AFR][1000 genomes]
rs57220017	0.82[AMR][1000 genomes]
rs57259679	0.91[ASN][1000 genomes]
rs58035425	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59019179	1.00[AFR][1000 genomes]
rs59319887	1.00[AFR][1000 genomes]
rs60210181	0.82[AMR][1000 genomes]
rs60595161	0.88[ASN][1000 genomes]
rs60715791	0.88[ASN][1000 genomes]
rs61031744	1.00[ASN][1000 genomes]
rs61594384	1.00[AFR][1000 genomes]
rs61613462	1.00[ASN][1000 genomes]
rs6817065	0.84[ASN][1000 genomes]
rs6840212	1.00[AFR][1000 genomes]
rs6840324	1.00[AFR][1000 genomes]
rs6856633	0.83[EUR][1000 genomes]
rs73846080	0.81[ASN][1000 genomes]
rs73846081	0.81[ASN][1000 genomes]
rs73846082	0.81[ASN][1000 genomes]
rs73846083	0.81[ASN][1000 genomes]
rs7660412	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7679060	1.00[AFR][1000 genomes]
rs7683495	0.91[ASN][1000 genomes]
rs7697724	0.80[ASN][1000 genomes]

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	nsv879907	chr4:127646765-127709859	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127698600-127715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:127700000-127706000	Weak transcription	HMEC	breast
3	chr4:127701000-127706000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:127701400-127702000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:127701600-127703400	Weak transcription	K562	blood
6	chr4:127701600-127706000	Weak transcription	NHDF-Ad	bronchial

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