Variant report

Variant	rs17516512
Chromosome Location	chr4:119258491-119258492
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	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
2	chr4:119252868..119254896-chr4:119257055..119260006,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10016452	0.84[EUR][1000 genomes]
rs10017003	1.00[ASN][1000 genomes]
rs11931079	1.00[ASN][1000 genomes]
rs13101451	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103629	1.00[ASN][1000 genomes]
rs13104251	1.00[ASN][1000 genomes]
rs13109564	1.00[ASN][1000 genomes]
rs13119795	1.00[ASN][1000 genomes]
rs13120016	1.00[ASN][1000 genomes]
rs13123277	1.00[ASN][1000 genomes]
rs13125461	1.00[ASN][1000 genomes]
rs13127368	1.00[ASN][1000 genomes]
rs13128545	1.00[ASN][1000 genomes]
rs13130953	1.00[ASN][1000 genomes]
rs13131623	1.00[ASN][1000 genomes]
rs13132957	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13135360	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs13136897	1.00[ASN][1000 genomes]
rs13138385	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs13138982	1.00[ASN][1000 genomes]
rs13140433	1.00[ASN][1000 genomes]
rs13141841	1.00[ASN][1000 genomes]
rs13142184	1.00[ASN][1000 genomes]
rs13144171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144419	1.00[ASN][1000 genomes]
rs13146959	1.00[ASN][1000 genomes]
rs13151098	1.00[ASN][1000 genomes]
rs1608506	1.00[ASN][1000 genomes]
rs17516164	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs17516219	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs17516233	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs17516389	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs17516526	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516540	0.84[EUR][1000 genomes]
rs17516582	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17594018	1.00[ASN][1000 genomes]
rs17594257	1.00[ASN][1000 genomes]
rs17594447	1.00[ASN][1000 genomes]
rs17594468	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs17594559	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs17594740	1.00[ASN][1000 genomes]
rs17594782	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594978	0.87[CEU][hapmap]
rs17626479	1.00[ASN][1000 genomes]
rs28552458	0.84[EUR][1000 genomes]
rs34082100	1.00[ASN][1000 genomes]
rs34101813	1.00[ASN][1000 genomes]
rs34185290	1.00[ASN][1000 genomes]
rs34202571	1.00[ASN][1000 genomes]
rs34284204	1.00[ASN][1000 genomes]
rs34302716	1.00[ASN][1000 genomes]
rs34531766	1.00[ASN][1000 genomes]
rs34723948	1.00[ASN][1000 genomes]
rs34804902	1.00[ASN][1000 genomes]
rs34835262	1.00[ASN][1000 genomes]
rs34928611	1.00[ASN][1000 genomes]
rs34958556	1.00[ASN][1000 genomes]
rs35054481	1.00[ASN][1000 genomes]
rs35215908	1.00[ASN][1000 genomes]
rs35420005	1.00[ASN][1000 genomes]
rs35553303	1.00[ASN][1000 genomes]
rs35612621	1.00[ASN][1000 genomes]
rs35650624	1.00[ASN][1000 genomes]
rs35749089	1.00[ASN][1000 genomes]
rs35774897	1.00[ASN][1000 genomes]
rs35861609	1.00[ASN][1000 genomes]
rs35872631	1.00[ASN][1000 genomes]
rs35875491	1.00[ASN][1000 genomes]
rs35876590	1.00[ASN][1000 genomes]
rs35909687	1.00[ASN][1000 genomes]
rs35983699	1.00[ASN][1000 genomes]
rs36058627	1.00[ASN][1000 genomes]
rs55699931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56324414	0.84[EUR][1000 genomes]
rs71608346	1.00[ASN][1000 genomes]
rs71608350	1.00[ASN][1000 genomes]
rs71608351	1.00[ASN][1000 genomes]
rs71608352	1.00[ASN][1000 genomes]
rs71608355	1.00[ASN][1000 genomes]
rs71608356	1.00[ASN][1000 genomes]
rs71608358	1.00[ASN][1000 genomes]
rs71608359	1.00[ASN][1000 genomes]
rs71608361	1.00[ASN][1000 genomes]
rs71608363	1.00[ASN][1000 genomes]
rs72670238	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72677057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
9	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:119247200-119259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119250000-119258600	Weak transcription	Osteobl	bone
12	chr4:119252800-119259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:119252800-119261200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:119253000-119258600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:119253000-119262200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:119254200-119258600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:119256000-119258600	Weak transcription	Pancreas	Pancrea
18	chr4:119256800-119262000	Enhancers	NHDF-Ad	bronchial
19	chr4:119257000-119261800	Enhancers	NHLF	lung
20	chr4:119257200-119258600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:119257400-119258600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:119257400-119258600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:119258200-119261600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:119258400-119259600	Enhancers	Brain Germinal Matrix	brain

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