Variant report

Variant	rs751196
Chromosome Location	chr11:45281712-45281713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1075778	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769133	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769134	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769135	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769136	0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1077490	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1077491	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838437	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838438	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038354	0.86[JPT][hapmap]
rs11038358	0.86[JPT][hapmap]
rs11038360	0.93[JPT][hapmap]
rs11038372	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038382	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038384	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604409	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12363398	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12363412	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289448	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2863176	0.88[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2863178	0.94[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2863181	0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2863182	0.94[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2902429	0.96[ASN][1000 genomes]
rs2902433	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34191816	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3758726	0.86[JPT][hapmap]
rs4556529	0.93[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4556531	0.88[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs4755306	0.89[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs4755943	0.82[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs4755945	0.84[ASN][1000 genomes]
rs4992029	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485603	0.88[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs6485605	0.96[ASN][1000 genomes]
rs6485607	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6485608	0.89[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6485609	0.86[ASN][1000 genomes]
rs7110580	0.88[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs7114339	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7117240	0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7119605	0.85[JPT][hapmap]
rs7123698	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123765	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127746	0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs731102	0.85[JPT][hapmap]
rs7395289	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7395357	0.89[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7395419	0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7395421	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7396488	0.89[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7943596	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8929	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9300051	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs751196	F2	cis	cerebellum	SCAN
rs751196	SYT13	cis	cerebellum	SCAN
rs751196	SYT13	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45279200-45282600	Enhancers	Fetal Stomach	stomach
2	chr11:45279600-45282400	Enhancers	Fetal Lung	lung
3	chr11:45279800-45282600	Enhancers	Fetal Brain Male	brain
4	chr11:45280000-45281800	Enhancers	Brain Germinal Matrix	brain
5	chr11:45280000-45282400	Enhancers	A549	lung
6	chr11:45280200-45282600	Enhancers	Fetal Brain Female	brain
7	chr11:45280400-45282800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:45280400-45283000	Enhancers	Fetal Intestine Small	intestine
9	chr11:45280600-45282400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:45280600-45282600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:45280600-45282600	Enhancers	Fetal Intestine Large	intestine
12	chr11:45280800-45281800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:45280800-45281800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:45280800-45281800	Enhancers	HMEC	breast
15	chr11:45280800-45282000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:45280800-45282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:45280800-45282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:45280800-45282800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:45280800-45282800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr11:45281000-45281800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:45281000-45281800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:45281000-45281800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:45281000-45281800	Enhancers	HSMM	muscle
24	chr11:45281000-45281800	Enhancers	NHDF-Ad	bronchial
25	chr11:45281000-45282000	Enhancers	Stomach Mucosa	stomach
26	chr11:45281000-45282200	Enhancers	NH-A	brain
27	chr11:45281000-45282600	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:45281200-45281800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:45281200-45282200	Enhancers	Pancreas	Pancrea
30	chr11:45281200-45282600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:45281400-45281800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:45281400-45281800	Flanking Active TSS	Hela-S3	cervix
33	chr11:45281400-45286000	Weak transcription	Colonic Mucosa	Colon
34	chr11:45281600-45282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:45281600-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:45281600-45284400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:45281600-45284400	Weak transcription	HSMMtube	muscle
38	chr11:45281600-45284400	Weak transcription	Osteobl	bone
39	chr11:45281600-45285600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:45281600-45286200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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