Variant report

Variant	rs11176676
Chromosome Location	chr12:67692918-67692919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67687173..67689993-chr12:67691527..67694169,2	K562	blood:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10128823	1.00[EUR][1000 genomes]
rs10129028	1.00[EUR][1000 genomes]
rs11176672	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176679	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176684	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176691	1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11176715	1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11503726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297966	1.00[EUR][1000 genomes]
rs12299042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299097	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[EUR][1000 genomes]
rs12311840	1.00[EUR][1000 genomes]
rs12311845	1.00[EUR][1000 genomes]
rs12312040	1.00[EUR][1000 genomes]
rs12313282	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	0.83[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12318518	1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	1.00[EUR][1000 genomes]
rs12321396	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322901	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103392	1.00[EUR][1000 genomes]
rs17103652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103772	1.00[EUR][1000 genomes]
rs17120707	1.00[EUR][1000 genomes]
rs17120710	1.00[EUR][1000 genomes]
rs4083304	1.00[EUR][1000 genomes]
rs57886620	1.00[EUR][1000 genomes]
rs61504642	1.00[EUR][1000 genomes]
rs6581751	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7135195	1.00[EUR][1000 genomes]
rs7294827	1.00[EUR][1000 genomes]
rs7306853	1.00[EUR][1000 genomes]
rs7307643	1.00[EUR][1000 genomes]
rs7312079	1.00[EUR][1000 genomes]
rs73320752	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73322616	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73326445	1.00[EUR][1000 genomes]
rs73326448	1.00[EUR][1000 genomes]
rs73326466	1.00[EUR][1000 genomes]
rs7954999	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962872	1.00[EUR][1000 genomes]
rs7964763	1.00[EUR][1000 genomes]
rs7966031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	1.00[EUR][1000 genomes]
rs9989023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
3	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
9	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
10	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
11	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
15	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
16	chr12:67675600-67694600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:67680000-67696000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:67681000-67698200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
21	chr12:67681200-67699200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:67682200-67699400	Weak transcription	Pancreas	Pancrea
23	chr12:67682200-67709000	Strong transcription	Dnd41	blood
24	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
27	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
29	chr12:67684800-67693800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:67684800-67698400	Weak transcription	Lung	lung
31	chr12:67684800-67698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:67684800-67699000	Weak transcription	Gastric	stomach
33	chr12:67685000-67698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:67685200-67696200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:67685800-67708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:67686200-67694600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:67686200-67708800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:67686200-67711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:67686400-67694400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:67686400-67707800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:67686400-67708800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:67686400-67708800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:67686400-67708800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr12:67686400-67709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:67686400-67709000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:67686600-67694600	Strong transcription	Osteobl	bone
50	chr12:67686600-67708600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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