Variant report

Variant	rs17011528
Chromosome Location	chr4:127660479-127660480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127655542..127661109-chr4:127874426..127880524,8	K562	blood:
2	chr4:127657779..127661019-chr4:127875846..127879215,3	K562	blood:
3	chr4:127645103..127647916-chr4:127657804..127660806,3	K562	blood:
4	chr4:127659055..127662834-chr4:127664504..127669791,5	K562	blood:
5	chr4:127654180..127661020-chr4:127693803..127700410,12	K562	blood:
6	chr4:127649446..127654981-chr4:127658045..127662615,6	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1014773	0.87[ASN][1000 genomes]
rs10461207	1.00[ASN][1000 genomes]
rs10857117	0.87[ASN][1000 genomes]
rs11098891	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11098892	0.87[ASN][1000 genomes]
rs11098893	0.87[ASN][1000 genomes]
rs11098896	1.00[ASN][1000 genomes]
rs11098898	1.00[ASN][1000 genomes]
rs1157308	0.87[ASN][1000 genomes]
rs1167190	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935382	1.00[ASN][1000 genomes]
rs11940501	0.87[ASN][1000 genomes]
rs11941222	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12163770	0.87[ASN][1000 genomes]
rs12503440	0.87[ASN][1000 genomes]
rs12504330	1.00[ASN][1000 genomes]
rs12507115	1.00[ASN][1000 genomes]
rs12647109	0.87[ASN][1000 genomes]
rs12650177	0.87[ASN][1000 genomes]
rs13111309	1.00[ASN][1000 genomes]
rs13112652	0.87[ASN][1000 genomes]
rs13143010	0.87[ASN][1000 genomes]
rs13148138	0.87[ASN][1000 genomes]
rs13152826	0.87[ASN][1000 genomes]
rs1393991	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1393993	0.87[ASN][1000 genomes]
rs1503604	0.87[ASN][1000 genomes]
rs1503605	1.00[ASN][1000 genomes]
rs1503606	1.00[ASN][1000 genomes]
rs1503608	1.00[ASN][1000 genomes]
rs1503610	0.87[ASN][1000 genomes]
rs1503611	1.00[ASN][1000 genomes]
rs1503614	1.00[ASN][1000 genomes]
rs1503631	0.87[ASN][1000 genomes]
rs1532768	1.00[ASN][1000 genomes]
rs1604719	0.87[ASN][1000 genomes]
rs1604724	1.00[ASN][1000 genomes]
rs17203028	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875740	0.87[ASN][1000 genomes]
rs1948827	1.00[ASN][1000 genomes]
rs1955281	0.87[ASN][1000 genomes]
rs1976483	1.00[ASN][1000 genomes]
rs2013778	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2013864	1.00[ASN][1000 genomes]
rs2089061	1.00[ASN][1000 genomes]
rs2134641	0.87[ASN][1000 genomes]
rs2134645	0.87[ASN][1000 genomes]
rs2174184	0.87[ASN][1000 genomes]
rs2391099	1.00[CHB][hapmap]
rs28666008	1.00[ASN][1000 genomes]
rs28742896	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28811377	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28876486	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893192	0.87[ASN][1000 genomes]
rs4834142	0.87[ASN][1000 genomes]
rs55791209	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324217	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324218	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6534583	1.00[ASN][1000 genomes]
rs6812442	0.87[ASN][1000 genomes]
rs6829454	1.00[ASN][1000 genomes]
rs6830097	0.87[ASN][1000 genomes]
rs6848985	1.00[ASN][1000 genomes]
rs6856064	1.00[ASN][1000 genomes]
rs7654869	0.87[ASN][1000 genomes]
rs7672155	1.00[ASN][1000 genomes]
rs7676848	0.87[ASN][1000 genomes]
rs7681140	1.00[ASN][1000 genomes]
rs7686181	1.00[ASN][1000 genomes]
rs7691822	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694861	1.00[ASN][1000 genomes]
rs7696445	1.00[ASN][1000 genomes]
rs7696767	1.00[ASN][1000 genomes]
rs969315	1.00[ASN][1000 genomes]
rs986907	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	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
7	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127659600-127660800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:127660000-127660800	Enhancers	NHDF-Ad	bronchial
3	chr4:127660400-127660600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:127660400-127660600	Enhancers	Fetal Lung	lung
5	chr4:127660400-127661600	Enhancers	K562	blood

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