Variant report

Variant	rs17288913
Chromosome Location	chr8:99318745-99318746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99270989..99273601-chr8:99316752..99319337,2	MCF-7	breast:
2	chr8:99318271..99319945-chr8:99351260..99353325,2	MCF-7	breast:
3	chr8:99317402..99318955-chr8:99321562..99323926,2	K562	blood:
4	chr8:99317720..99320163-chr8:99340158..99342322,2	MCF-7	breast:
5	chr8:99316732..99320317-chr8:99321692..99325687,5	MCF-7	breast:
6	chr8:99305096..99307073-chr8:99316454..99319196,2	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10096079	0.86[EUR][1000 genomes]
rs10955165	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11774385	1.00[CEU][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs11775325	1.00[CEU][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs11775839	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11777508	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11780409	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11782450	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11783294	0.83[CEU][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs11784029	1.00[CEU][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs11785622	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11787268	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17289367	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17360909	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17370425	1.00[LWK][hapmap]
rs3735888	1.00[CHD][hapmap]
rs55812318	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62524219	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62524220	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62524223	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6987554	0.80[EUR][1000 genomes]
rs72664861	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
2	chr8:99316000-99320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:99316800-99318800	Enhancers	NHEK	skin
4	chr8:99317000-99318800	Enhancers	HSMM	muscle
5	chr8:99317000-99319000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:99317000-99319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:99317000-99319000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:99317000-99319000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:99317000-99319000	Enhancers	NHDF-Ad	bronchial
10	chr8:99317200-99319000	Enhancers	Esophagus	oesophagus
11	chr8:99317200-99319200	Enhancers	Fetal Brain Male	brain
12	chr8:99317200-99319200	Enhancers	HepG2	liver
13	chr8:99317600-99319000	Enhancers	Fetal Brain Female	brain
14	chr8:99317600-99322800	Weak transcription	HMEC	breast
15	chr8:99317800-99319000	Enhancers	Fetal Lung	lung
16	chr8:99317800-99319000	Enhancers	Fetal Muscle Leg	muscle
17	chr8:99318000-99319000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:99318000-99319000	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:99318000-99319000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:99318000-99319000	Flanking Active TSS	K562	blood
21	chr8:99318000-99319200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:99318000-99319200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:99318200-99318800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:99318200-99319000	Enhancers	Fetal Thymus	thymus
25	chr8:99318400-99319000	Enhancers	Fetal Intestine Large	intestine
26	chr8:99318400-99319200	Enhancers	Fetal Intestine Small	intestine
27	chr8:99318400-99323200	Weak transcription	Colonic Mucosa	Colon
28	chr8:99318600-99321600	Weak transcription	Muscle Satellite Cultured Cells	--

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