Variant report

Variant	rs4763584
Chromosome Location	chr12:11014118-11014119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12300797	1.00[AMR][1000 genomes]
rs12302178	1.00[AMR][1000 genomes]
rs1972571	0.84[AFR][1000 genomes]
rs2159901	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2597986	1.00[AMR][1000 genomes]
rs2900551	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983357	1.00[AMR][1000 genomes]
rs3983358	1.00[AMR][1000 genomes]
rs4360778	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763583	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488339	1.00[AMR][1000 genomes]
rs7139132	1.00[AMR][1000 genomes]
rs7139268	1.00[AMR][1000 genomes]
rs7301324	1.00[AMR][1000 genomes]
rs7312325	1.00[AMR][1000 genomes]
rs7312662	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
2	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11004400-11014200	Weak transcription	Gastric	stomach
5	chr12:11006600-11014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
7	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
8	chr12:11008800-11029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:11008800-11030000	Weak transcription	HSMMtube	muscle
10	chr12:11009200-11029200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:11009200-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:11009600-11030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:11009800-11014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:11011400-11014200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:11011600-11030000	Weak transcription	Esophagus	oesophagus
17	chr12:11011800-11029800	Weak transcription	Liver	Liver
18	chr12:11011800-11030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:11011800-11030000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:11011800-11031800	Weak transcription	Thymus	Thymus
21	chr12:11012000-11014200	Weak transcription	Left Ventricle	heart
22	chr12:11012000-11014800	Weak transcription	Brain Angular Gyrus	brain
23	chr12:11012000-11021000	Weak transcription	HepG2	liver
24	chr12:11012000-11034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:11012200-11031200	Weak transcription	Fetal Stomach	stomach
26	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:11013200-11032800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:11013800-11016800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:11014000-11014200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:11014000-11014200	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr12:11014000-11014400	ZNF genes & repeats	Aorta	Aorta
34	chr12:11014000-11014400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr12:11014000-11014400	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr12:11014000-11014400	ZNF genes & repeats	Fetal Lung	lung
37	chr12:11014000-11014400	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr12:11014000-11014400	ZNF genes & repeats	Ovary	ovary
39	chr12:11014000-11014400	ZNF genes & repeats	Pancreas	Pancrea
40	chr12:11014000-11014600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr12:11014000-11015800	ZNF genes & repeats	Dnd41	blood

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