Variant report

Variant	rs11681392
Chromosome Location	chr2:36758100-36758101
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	chr2:36753244..36754904-chr2:36755959..36758615,2	K562	blood:
2	chr2:36755319..36758210-chr2:36763751..36765429,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10184223	0.81[EUR][1000 genomes]
rs10189344	0.82[MEX][hapmap]
rs11694761	0.86[TSI][hapmap]
rs12712507	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1523785	0.88[CEU][hapmap];0.96[GIH][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1533949	0.81[MEX][hapmap]
rs2287082	0.83[CEU][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293254	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs3755197	0.83[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770820	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770821	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3770832	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs3770833	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs3815552	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6721081	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9295	0.86[MEX][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11681392	CRIM1	cis	cerebellum	SCAN
rs11681392	FEZ2	cis	cerebellum	SCAN
rs11681392	STRN	cis	cerebellum	SCAN
rs11681392	FEZ2	cis	parietal	SCAN
rs11681392	FEZ2	cis	multi-tissue	Pritchard

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
4	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
5	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
6	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
9	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
10	chr2:36747800-36774200	Weak transcription	Liver	Liver
11	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:36748000-36764400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:36749600-36764200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain
15	chr2:36749600-36765200	Weak transcription	Right Ventricle	heart
16	chr2:36749800-36764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:36749800-36764200	Weak transcription	Spleen	Spleen
18	chr2:36750000-36765200	Weak transcription	Gastric	stomach
19	chr2:36750800-36759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:36750800-36763200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:36750800-36764400	Weak transcription	Esophagus	oesophagus
22	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:36751000-36759000	Weak transcription	Fetal Kidney	kidney
24	chr2:36751000-36759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:36751000-36761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:36751000-36764200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
29	chr2:36751400-36763600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:36751400-36764200	Weak transcription	Fetal Brain Female	brain
31	chr2:36751400-36764200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:36751600-36759000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:36751600-36759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:36751600-36764400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:36751600-36764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:36751800-36759000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:36752400-36759400	Genic enhancers	Osteobl	bone
39	chr2:36752600-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:36752800-36760600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:36753000-36760600	Strong transcription	NHEK	skin
43	chr2:36753000-36764200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:36753800-36758800	Weak transcription	Fetal Lung	lung
45	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:36754000-36759400	Weak transcription	Lung	lung
47	chr2:36754000-36759400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:36754000-36761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:36754000-36764400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:36754200-36764200	Weak transcription	Left Ventricle	heart

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