Variant report

Variant	rs12360983
Chromosome Location	chr11:121375963-121375964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10892752	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218301	0.81[AMR][1000 genomes]
rs11218304	0.84[AMR][1000 genomes]
rs11218312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218319	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218326	0.87[ASN][1000 genomes]
rs11218335	0.83[ASN][1000 genomes]
rs11512476	0.89[ASN][1000 genomes]
rs11518396	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361125	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12795657	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796043	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12796201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009383	0.96[ASN][1000 genomes]
rs2276346	0.87[ASN][1000 genomes]
rs3933403	0.87[ASN][1000 genomes]
rs4935775	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7105365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109029	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481208	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121349800-121393000	Weak transcription	Colonic Mucosa	Colon
2	chr11:121350000-121401400	Weak transcription	Fetal Brain Male	brain
3	chr11:121350400-121393200	Weak transcription	Gastric	stomach
4	chr11:121351400-121384600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:121352800-121377600	Strong transcription	HepG2	liver
6	chr11:121353600-121377000	Weak transcription	Pancreas	Pancrea
7	chr11:121359200-121384200	Weak transcription	Fetal Stomach	stomach
8	chr11:121359800-121377000	Weak transcription	Esophagus	oesophagus
9	chr11:121360800-121384400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:121365800-121377200	Weak transcription	Small Intestine	intestine
11	chr11:121365800-121392600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:121366400-121376400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:121367200-121376600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:121368000-121378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:121368400-121395800	Weak transcription	Fetal Kidney	kidney
16	chr11:121368600-121377000	Weak transcription	Aorta	Aorta
17	chr11:121368600-121387000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:121368800-121378600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:121369000-121376600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:121369000-121377000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:121369000-121396800	Weak transcription	Ovary	ovary
22	chr11:121369200-121376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:121369200-121376800	Weak transcription	NHEK	skin
24	chr11:121369200-121377000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:121369200-121377000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:121369200-121377000	Weak transcription	Spleen	Spleen
27	chr11:121369200-121378600	Weak transcription	Brain Anterior Caudate	brain
28	chr11:121369200-121378800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:121369200-121379000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:121369400-121377000	Weak transcription	HMEC	breast
31	chr11:121369400-121391000	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:121369600-121376600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:121369800-121383000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:121370000-121378600	Weak transcription	Brain Substantia Nigra	brain
35	chr11:121370200-121376400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:121370200-121376600	Weak transcription	Fetal Lung	lung
37	chr11:121370600-121377400	ZNF genes & repeats	GM12878-XiMat	blood
38	chr11:121371000-121378600	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:121371200-121376600	Weak transcription	Fetal Intestine Large	intestine
40	chr11:121371200-121377000	Weak transcription	Fetal Intestine Small	intestine
41	chr11:121371200-121379000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:121371200-121383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:121371200-121384000	Weak transcription	Thymus	Thymus
44	chr11:121371400-121378800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:121371600-121376000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:121371600-121376200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:121371600-121378600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:121371600-121384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:121371800-121376000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:121371800-121376600	Weak transcription	H1 Cell Line	embryonic stem cell

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