Variant report

Variant	rs11042008
Chromosome Location	chr11:8625817-8625818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8624366..8626614-chr11:8629060..8630632,2	K562	blood:
2	chr11:8386819..8387384-chr11:8625276..8626048,2	K562	blood:
3	chr11:8614329..8617137-chr11:8624383..8625976,2	K562	blood:
4	chr11:8625273..8626112-chr11:8816054..8816907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130413	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11041978	0.82[ASW][hapmap]
rs4929942	0.83[ASW][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs9300092	0.82[ASW][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11042008	OR52E4	cis	cerebellum	SCAN
rs11042008	PPFIBP2	cis	parietal	SCAN
rs11042008	OR52H1	cis	cerebellum	SCAN
rs11042008	ZNF214	cis	cerebellum	SCAN
rs11042008	CSNK2A1P	cis	cerebellum	SCAN
rs11042008	OR52I1	cis	parietal	SCAN
rs11042008	ARFIP2	cis	parietal	SCAN
rs11042008	OR51V1	cis	cerebellum	SCAN
rs11042008	OR51G2	cis	cerebellum	SCAN
rs11042008	OR51F2	cis	cerebellum	SCAN
rs11042008	RPL27A	cis	parietal	SCAN
rs11042008	TRIM22	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8623400-8634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:8623600-8632000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8625200-8626200	Enhancers	NHEK	skin
4	chr11:8625200-8626800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:8625200-8626800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:8625200-8626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:8625200-8626800	Enhancers	NHDF-Ad	bronchial
8	chr11:8625200-8626800	Enhancers	NHLF	lung
9	chr11:8625200-8626800	Enhancers	Osteobl	bone
10	chr11:8625200-8627600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:8625200-8627800	Enhancers	HMEC	breast
12	chr11:8625200-8628000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:8625200-8628600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:8625400-8626000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:8625400-8626000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:8625400-8626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:8625400-8626000	Enhancers	GM12878-XiMat	blood
18	chr11:8625400-8627800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:8625400-8628400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:8625400-8628400	Enhancers	HSMM	muscle
21	chr11:8625600-8626000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:8625600-8626000	Enhancers	K562	blood
23	chr11:8625600-8626000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:8625600-8626200	Enhancers	Rectal Smooth Muscle	rectum
25	chr11:8625600-8626400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:8625600-8626400	Enhancers	Adipose Nuclei	Adipose
27	chr11:8625600-8626400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:8625600-8626400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:8625600-8626400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:8625600-8626400	Flanking Active TSS	Hela-S3	cervix
31	chr11:8625600-8626600	Enhancers	Stomach Mucosa	stomach
32	chr11:8625600-8626600	Enhancers	NH-A	brain
33	chr11:8625600-8626800	Enhancers	Esophagus	oesophagus
34	chr11:8625600-8627400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:8625600-8628800	Enhancers	HSMMtube	muscle
36	chr11:8625800-8626000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:8625800-8626000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr11:8625800-8626000	Enhancers	Fetal Intestine Small	intestine
39	chr11:8625800-8626200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr11:8625800-8626200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:8625800-8626200	Enhancers	Colon Smooth Muscle	Colon
42	chr11:8625800-8626400	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:8625800-8626400	Enhancers	Pancreas	Pancrea
44	chr11:8625800-8626400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:8625800-8626400	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:8625800-8626400	Enhancers	HepG2	liver
47	chr11:8625800-8626400	Enhancers	HUVEC	blood vessel
48	chr11:8625800-8626800	Flanking Active TSS	A549	lung

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