Variant report

Variant	rs6589855
Chromosome Location	chr11:120954769-120954770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10502245	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10892662	0.90[ASN][1000 genomes]
rs10892663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10892664	0.90[ASN][1000 genomes]
rs10892665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10892666	0.97[ASN][1000 genomes]
rs10892667	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.98[ASN][1000 genomes]
rs10892668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10892669	0.97[ASN][1000 genomes]
rs10892670	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218115	0.87[ASN][1000 genomes]
rs11218118	0.90[ASN][1000 genomes]
rs11218120	0.90[ASN][1000 genomes]
rs11218121	0.90[ASN][1000 genomes]
rs11218122	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11218123	0.91[ASN][1000 genomes]
rs11218125	0.92[ASN][1000 genomes]
rs11218126	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11218127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11218128	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11218135	0.95[ASN][1000 genomes]
rs11218137	0.98[ASN][1000 genomes]
rs11218139	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11218140	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12225989	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[ASN][1000 genomes]
rs12226639	0.99[ASN][1000 genomes]
rs12274032	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12274094	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12283211	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12576572	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs12576574	0.90[ASN][1000 genomes]
rs12576758	0.90[ASN][1000 genomes]
rs12576759	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs12577611	0.90[ASN][1000 genomes]
rs17124739	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17124764	0.99[ASN][1000 genomes]
rs1939004	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2000525	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs2000526	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs2000527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2000528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2186601	0.99[ASN][1000 genomes]
rs2298491	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.99[ASN][1000 genomes]
rs34929374	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3758891	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[ASN][1000 genomes]
rs3824976	0.87[ASN][1000 genomes]
rs4396299	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4594010	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56675723	0.97[ASN][1000 genomes]
rs57401958	0.95[ASN][1000 genomes]
rs57826163	0.98[ASN][1000 genomes]
rs58204590	0.95[ASN][1000 genomes]
rs61903185	0.90[ASN][1000 genomes]
rs6589854	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6589856	0.99[ASN][1000 genomes]
rs67932968	0.98[ASN][1000 genomes]
rs68097814	0.90[ASN][1000 genomes]
rs7122879	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7478744	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7927356	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7928550	0.85[ASN][1000 genomes]
rs7931603	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7940619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7947565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7952619	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv1046688	chr11:120894391-120956305	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv524651	chr11:120941583-120954769	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6589855	CBL	cis	cerebellum	SCAN
rs6589855	OR10G8	cis	parietal	SCAN
rs6589855	TBCEL	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120896200-120959600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:120909000-120956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120910000-120966600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:120911200-120957400	Weak transcription	Thymus	Thymus
5	chr11:120911200-120961200	Weak transcription	Spleen	Spleen
6	chr11:120925200-120957400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:120925200-120960000	Weak transcription	Right Ventricle	heart
8	chr11:120925200-120962400	Weak transcription	Psoas Muscle	Psoas
9	chr11:120926000-120956600	Weak transcription	NHLF	lung
10	chr11:120926200-120966200	Weak transcription	NHEK	skin
11	chr11:120926400-120965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:120927600-120956600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:120927600-120956800	Weak transcription	HMEC	breast
14	chr11:120927600-120959400	Weak transcription	Fetal Brain Male	brain
15	chr11:120928400-120957000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:120933200-120957800	Weak transcription	Placenta	Placenta
17	chr11:120933400-120956200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:120933600-120959600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:120934200-120957400	Weak transcription	Osteobl	bone
20	chr11:120935600-120961000	Weak transcription	NHDF-Ad	bronchial
21	chr11:120936200-120957200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:120937200-120956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:120937400-120961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:120938600-120957200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:120939400-120957600	Weak transcription	Fetal Stomach	stomach
26	chr11:120939800-120957800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:120939800-120962600	Weak transcription	Small Intestine	intestine
28	chr11:120940200-120959200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:120940600-120956200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:120940600-120957200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:120940600-120957600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:120940600-120960600	Weak transcription	Fetal Intestine Small	intestine
33	chr11:120940800-120956000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:120940800-120957400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:120940800-120958000	Weak transcription	Brain Germinal Matrix	brain
36	chr11:120942800-120956200	Weak transcription	HUVEC	blood vessel
37	chr11:120942800-120957400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:120942800-120957600	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:120942800-120957800	Weak transcription	HSMMtube	muscle
40	chr11:120942800-120962400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:120942800-120964600	Weak transcription	Lung	lung
42	chr11:120942800-120965800	Weak transcription	Esophagus	oesophagus
43	chr11:120942800-120972000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:120942800-120979000	Weak transcription	Aorta	Aorta
45	chr11:120943000-120956200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:120943000-120956200	Weak transcription	Fetal Lung	lung
47	chr11:120943000-120956200	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:120943000-120956200	Weak transcription	Ovary	ovary
49	chr11:120943000-120957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:120943000-120957000	Weak transcription	Brain Anterior Caudate	brain

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