Variant report

Variant	rs12278380
Chromosome Location	chr11:76674876-76674877
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10466735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236971	1.00[AMR][1000 genomes]
rs11237007	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11501930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282269	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288840	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295481	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28859077	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60003396	1.00[AMR][1000 genomes]
rs7101837	1.00[AMR][1000 genomes]
rs7101915	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109935	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117397	1.00[AMR][1000 genomes]
rs7121715	1.00[ASW][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942346	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947572	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3508597	chr11:76671304-76676202	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3508598	chr11:76671304-76676202	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv498761	chr11:76672826-76677823	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76631400-76688400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76645800-76683800	Weak transcription	Esophagus	oesophagus
3	chr11:76646600-76688000	Weak transcription	HMEC	breast
4	chr11:76650600-76681200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:76655800-76681800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:76656200-76677000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:76657000-76676600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:76657200-76688400	Weak transcription	Gastric	stomach
9	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:76665800-76688400	Weak transcription	Right Ventricle	heart
11	chr11:76666800-76677600	Weak transcription	Hela-S3	cervix
12	chr11:76666800-76695400	Weak transcription	NHEK	skin
13	chr11:76669000-76675200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:76670200-76675200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:76671600-76675400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:76672200-76675800	Weak transcription	Spleen	Spleen
17	chr11:76672200-76676800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:76672200-76677200	Weak transcription	Ovary	ovary
19	chr11:76672200-76682600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:76672200-76697800	Weak transcription	Left Ventricle	heart
21	chr11:76672400-76696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:76673000-76675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:76673000-76689600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:76673200-76675000	Enhancers	Fetal Intestine Large	intestine
25	chr11:76673400-76675000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:76673400-76675200	Enhancers	Fetal Thymus	thymus
27	chr11:76673400-76675200	Enhancers	Stomach Mucosa	stomach
28	chr11:76673400-76676000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:76673400-76676000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr11:76673600-76675000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr11:76673600-76675000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:76673600-76675000	Strong transcription	Placenta	Placenta
33	chr11:76673600-76675000	Enhancers	GM12878-XiMat	blood
34	chr11:76673600-76675200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:76673600-76675200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr11:76673600-76675200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr11:76673600-76675400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr11:76673600-76675400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:76673800-76675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:76673800-76675000	Strong transcription	Brain Angular Gyrus	brain
41	chr11:76673800-76675000	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr11:76673800-76675200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:76673800-76675200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr11:76673800-76675200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:76673800-76690400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:76674000-76675000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr11:76674000-76675000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr11:76674000-76675000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:76674000-76675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:76674000-76675000	Flanking Active TSS	Dnd41	blood

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