Variant report

Variant	rs7122620
Chromosome Location	chr11:5683567-5683568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11038521	0.83[CHB][hapmap]
rs12418194	0.82[ASN][1000 genomes]
rs7933458	0.90[ASN][1000 genomes]
rs7950311	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7122620	OR56B1	cis	cerebellum	SCAN
rs7122620	OR52K1	cis	cerebellum	SCAN
rs7122620	MRPL17	cis	parietal	SCAN
rs7122620	CCKBR	cis	parietal	SCAN
rs7122620	SYT9	cis	parietal	SCAN
rs7122620	RRM1	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
2	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:5656400-5684600	Weak transcription	Osteobl	bone
6	chr11:5656400-5688800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:5664000-5685000	Weak transcription	Fetal Thymus	thymus
8	chr11:5664000-5686200	Weak transcription	Small Intestine	intestine
9	chr11:5664000-5686200	Weak transcription	Thymus	Thymus
10	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:5665400-5685200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:5665400-5685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:5665400-5685400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:5665400-5685400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:5665400-5685600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:5665400-5685600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:5665400-5685600	Weak transcription	GM12878-XiMat	blood
18	chr11:5665400-5685800	Weak transcription	Esophagus	oesophagus
19	chr11:5665400-5685800	Weak transcription	Ovary	ovary
20	chr11:5665400-5685800	Weak transcription	Spleen	Spleen
21	chr11:5665600-5685200	Weak transcription	Fetal Intestine Large	intestine
22	chr11:5665600-5685400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:5665600-5685600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:5666000-5684800	Weak transcription	Primary B cells from cord blood	blood
25	chr11:5666400-5684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:5666400-5685000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:5666400-5685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:5666400-5690800	Weak transcription	Lung	lung
29	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
30	chr11:5667000-5685600	Weak transcription	Placenta	Placenta
31	chr11:5673800-5686200	Weak transcription	Aorta	Aorta
32	chr11:5674000-5685600	Weak transcription	Adipose Nuclei	Adipose
33	chr11:5674800-5684000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
35	chr11:5675200-5683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:5675600-5685600	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:5676000-5685600	Weak transcription	Fetal Lung	lung
38	chr11:5676000-5699400	Weak transcription	Pancreas	Pancrea
39	chr11:5677200-5684000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:5678000-5699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:5678800-5685600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:5680000-5685400	Weak transcription	A549	lung
43	chr11:5680200-5684600	Weak transcription	Dnd41	blood
44	chr11:5680200-5685800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:5680800-5684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:5681000-5683800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:5681000-5685200	Weak transcription	HSMM	muscle
48	chr11:5681200-5686000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:5681200-5689000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:5681400-5685600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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