Variant report

Variant	rs2290293
Chromosome Location	chr8:99295664-99295665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99294576..99297304-chr8:99298018..99299770,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10283149	0.81[EUR][1000 genomes]
rs11785107	0.87[ASN][1000 genomes]
rs11785204	0.90[ASN][1000 genomes]
rs12674900	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13252923	0.87[YRI][hapmap]
rs4388427	0.81[CEU][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2290293	ESRP1	cis	parietal	SCAN
rs2290293	UQCRB	cis	parietal	SCAN
rs2290293	MTERFD1	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99260400-99304400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:99265400-99298400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:99265400-99304200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:99284600-99304600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:99284800-99304600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:99287600-99305000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:99287800-99303600	Weak transcription	Fetal Stomach	stomach
8	chr8:99289000-99297800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:99289000-99303400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:99290800-99305400	Weak transcription	Aorta	Aorta
11	chr8:99291000-99297800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:99291200-99295800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:99291400-99305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:99291800-99298400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:99291800-99304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99292000-99297000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:99292600-99295800	Weak transcription	Pancreas	Pancrea
18	chr8:99292600-99296000	Weak transcription	Spleen	Spleen
19	chr8:99292600-99298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:99292800-99296200	Weak transcription	Gastric	stomach
21	chr8:99293400-99304600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:99293600-99295800	Weak transcription	Lung	lung
23	chr8:99293600-99303800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:99293600-99304000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:99294400-99296600	Enhancers	Fetal Heart	heart
26	chr8:99294600-99295800	Weak transcription	Ovary	ovary
27	chr8:99294600-99295800	Weak transcription	Right Ventricle	heart
28	chr8:99294600-99295800	Weak transcription	HepG2	liver
29	chr8:99294800-99295800	Weak transcription	Esophagus	oesophagus
30	chr8:99294800-99295800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:99294800-99305400	Weak transcription	Right Atrium	heart
32	chr8:99295000-99296000	Weak transcription	Fetal Intestine Small	intestine
33	chr8:99295600-99296400	Enhancers	Left Ventricle	heart

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