Variant report

Variant	rs12791998
Chromosome Location	chr11:76683806-76683807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10899309	1.00[CEU][hapmap]
rs11236998	1.00[CEU][hapmap]
rs11237005	1.00[CEU][hapmap]
rs11237046	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11237058	0.81[EUR][1000 genomes]
rs12363052	0.92[EUR][1000 genomes]
rs12364910	0.92[EUR][1000 genomes]
rs12790535	1.00[CEU][hapmap]
rs12792209	1.00[CEU][hapmap]
rs12793219	1.00[CEU][hapmap]
rs12797385	0.81[EUR][1000 genomes]
rs12797610	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12806029	1.00[CEU][hapmap]
rs12807361	0.91[EUR][1000 genomes]
rs12807766	0.92[EUR][1000 genomes]
rs67397059	0.92[EUR][1000 genomes]
rs7933626	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519700	chr11:76637651-76709407	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1042924	chr11:76659477-76709407	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1040833	chr11:76667160-76709407	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv396	chr11:76670116-76702745	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1802222	chr11:76683305-76709407	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76631400-76688400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76646600-76688000	Weak transcription	HMEC	breast
3	chr11:76657200-76688400	Weak transcription	Gastric	stomach
4	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:76665800-76688400	Weak transcription	Right Ventricle	heart
6	chr11:76666800-76695400	Weak transcription	NHEK	skin
7	chr11:76672200-76697800	Weak transcription	Left Ventricle	heart
8	chr11:76672400-76696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:76673000-76689600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:76673800-76690400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:76674000-76688600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:76674400-76696000	Weak transcription	Small Intestine	intestine
13	chr11:76675000-76688600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:76675000-76689800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:76675000-76691600	Weak transcription	Fetal Lung	lung
16	chr11:76675000-76721800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:76675000-76725600	Weak transcription	A549	lung
18	chr11:76675000-76729600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:76675200-76684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:76675200-76688000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:76675200-76688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:76675200-76688200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:76675400-76688600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:76675400-76688800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:76675400-76689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:76681600-76684200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:76683000-76684200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:76683000-76684200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:76683000-76688000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:76683000-76736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:76683200-76688000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:76683200-76688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:76683200-76729200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:76683400-76684600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:76683400-76684600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:76683400-76688000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:76683400-76688200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:76683400-76689600	Weak transcription	Fetal Brain Male	brain
39	chr11:76683400-76690600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:76683600-76688400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:76683600-76720400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:76683600-76728000	Weak transcription	Brain Anterior Caudate	brain
43	chr11:76683800-76684000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr11:76683800-76684400	Strong transcription	Esophagus	oesophagus
45	chr11:76683800-76684400	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr11:76683800-76684600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:76683800-76684600	Strong transcription	Placenta	Placenta
48	chr11:76683800-76684600	ZNF genes & repeats	Fetal Stomach	stomach
49	chr11:76683800-76684800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:76683800-76684800	ZNF genes & repeats	Spleen	Spleen

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