Variant report

Variant	rs369737
Chromosome Location	chr11:9750495-9750496
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	chr11:9482649..9484669-chr11:9749326..9752164,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10840285	0.80[ASW][hapmap];0.82[MKK][hapmap]
rs12421878	0.84[CEU][hapmap]
rs12786236	0.84[CEU][hapmap]
rs1695613	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs2453831	0.88[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2453832	0.85[EUR][1000 genomes]
rs2454611	0.85[EUR][1000 genomes]
rs2454612	0.85[EUR][1000 genomes]
rs2645007	0.85[EUR][1000 genomes]
rs2645008	0.84[EUR][1000 genomes]
rs2645010	0.85[EUR][1000 genomes]
rs2645011	0.85[EUR][1000 genomes]
rs2645012	0.81[EUR][1000 genomes]
rs2649048	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs385846	0.85[EUR][1000 genomes]
rs389534	0.87[CEU][hapmap]
rs397250	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs397602	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs397686	0.88[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs408569	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs422061	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs431908	0.87[CEU][hapmap]
rs452169	0.85[EUR][1000 genomes]
rs4910497	0.83[CEU][hapmap]
rs920082	0.84[CEU][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs369737	ASCL3	cis	parietal	SCAN
rs369737	TRIM22	cis	cerebellum	SCAN
rs369737	CYB5R2	cis	cerebellum	SCAN
rs369737	HAP1	trans	parietal	SCAN
rs369737	OR2D2	cis	cerebellum	SCAN
rs369737	SWAP70	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:9717600-9751000	Weak transcription	Ovary	ovary
5	chr11:9729600-9755400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr11:9730600-9758200	Weak transcription	Esophagus	oesophagus
7	chr11:9732000-9754000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:9733200-9754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:9733400-9754200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:9733600-9757000	Weak transcription	Fetal Brain Female	brain
11	chr11:9733600-9761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:9733800-9759800	Weak transcription	Fetal Heart	heart
13	chr11:9737600-9753800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:9737600-9754200	Weak transcription	Gastric	stomach
15	chr11:9738600-9752400	Weak transcription	Thymus	Thymus
16	chr11:9739600-9751000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:9739800-9754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:9740000-9754000	Weak transcription	HepG2	liver
19	chr11:9740000-9758000	Weak transcription	Aorta	Aorta
20	chr11:9740000-9762000	Weak transcription	Brain Angular Gyrus	brain
21	chr11:9741200-9751000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:9742000-9754000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:9742200-9752400	Weak transcription	Fetal Thymus	thymus
24	chr11:9742200-9754200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:9742200-9754200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:9742200-9754200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:9742200-9754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:9742200-9754200	Weak transcription	Fetal Lung	lung
29	chr11:9742200-9754200	Weak transcription	Right Ventricle	heart
30	chr11:9742200-9754600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:9742200-9756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:9742200-9758400	Weak transcription	Brain Substantia Nigra	brain
33	chr11:9742200-9759800	Weak transcription	Fetal Kidney	kidney
34	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
35	chr11:9742400-9754200	Weak transcription	Spleen	Spleen
36	chr11:9744400-9756800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:9744600-9750600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:9744600-9761400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:9744800-9753800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:9744800-9756000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:9744800-9758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:9745000-9775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:9745600-9752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:9745600-9758600	Strong transcription	NHDF-Ad	bronchial
45	chr11:9746200-9752600	Strong transcription	Placenta	Placenta
46	chr11:9747000-9752000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:9747400-9750600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:9747400-9754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:9747400-9757000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:9747600-9754000	Weak transcription	Fetal Stomach	stomach

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