Variant report

Variant	rs2242502
Chromosome Location	chr11:8118116-8118117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8114581..8116309-chr11:8116337..8119171,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10769873	0.85[CEU][hapmap]
rs10769878	0.83[CEU][hapmap]
rs10839976	0.84[CEU][hapmap]
rs10839984	0.85[CEU][hapmap]
rs11041740	0.90[TSI][hapmap]
rs11041742	0.85[CEU][hapmap]
rs2242501	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs3750955	0.85[CEU][hapmap]
rs4343012	0.85[CEU][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2242502	OR52B6	cis	parietal	SCAN
rs2242502	CCKBR	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8103800-8119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:8104200-8120000	Weak transcription	HSMM	muscle
3	chr11:8105400-8122000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:8105800-8127400	Weak transcription	HepG2	liver
5	chr11:8106800-8122400	Weak transcription	Spleen	Spleen
6	chr11:8108400-8118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:8108800-8118200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:8109000-8125400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:8112400-8119800	Weak transcription	NHEK	skin
10	chr11:8112600-8129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:8113200-8128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:8114200-8122200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:8114400-8124000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:8114400-8125600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:8114400-8125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:8114400-8128200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:8114400-8130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:8114400-8133600	Weak transcription	Liver	Liver
19	chr11:8114600-8118200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:8114600-8119800	Weak transcription	NH-A	brain
21	chr11:8114600-8126800	Weak transcription	Fetal Heart	heart
22	chr11:8114800-8119400	Weak transcription	Left Ventricle	heart
23	chr11:8114800-8119400	Weak transcription	NHDF-Ad	bronchial
24	chr11:8114800-8122600	Weak transcription	Esophagus	oesophagus
25	chr11:8114800-8122600	Weak transcription	Pancreas	Pancrea
26	chr11:8114800-8124600	Weak transcription	Small Intestine	intestine
27	chr11:8115000-8118200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:8115200-8119600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:8115200-8128800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:8115400-8119400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:8115400-8129400	Strong transcription	Ovary	ovary
32	chr11:8115600-8119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:8115600-8119600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:8115600-8121000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:8115800-8118600	Strong transcription	Brain Substantia Nigra	brain
36	chr11:8115800-8128800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:8115800-8129400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:8116000-8122800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:8116000-8124600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:8116200-8118200	Weak transcription	Aorta	Aorta
41	chr11:8116200-8125600	Weak transcription	Colonic Mucosa	Colon
42	chr11:8116200-8132000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:8116400-8118400	Genic enhancers	Fetal Stomach	stomach
44	chr11:8116600-8118200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:8116600-8118200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:8116600-8118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:8116600-8122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:8116600-8122400	Weak transcription	Gastric	stomach
49	chr11:8116800-8118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:8116800-8118200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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