Variant report

Variant	rs12319089
Chromosome Location	chr12:21802055-21802056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21784403..21786252-chr12:21800427..21803138,2	K562	blood:
2	chr12:21505177..21506681-chr12:21801728..21804352,2	K562	blood:
3	chr12:21724973..21728015-chr12:21798807..21802516,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11046128	0.83[MKK][hapmap]
rs12303511	1.00[EUR][1000 genomes]
rs12309983	1.00[EUR][1000 genomes]
rs12316669	1.00[EUR][1000 genomes]
rs7294814	1.00[EUR][1000 genomes]
rs7974190	1.00[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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
2	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
3	chr12:21785400-21805200	Strong transcription	GM12878-XiMat	blood
4	chr12:21785800-21807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:21786200-21807000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:21786400-21807800	Strong transcription	Osteobl	bone
7	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr12:21787200-21806800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:21787200-21807400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:21787200-21807600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:21787200-21808200	Strong transcription	NH-A	brain
16	chr12:21787200-21808600	Strong transcription	HMEC	breast
17	chr12:21787200-21808600	Strong transcription	HSMM	muscle
18	chr12:21787400-21803800	Strong transcription	HUVEC	blood vessel
19	chr12:21788000-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:21788600-21810000	Weak transcription	Liver	Liver
21	chr12:21788800-21803800	Weak transcription	Esophagus	oesophagus
22	chr12:21788800-21803800	Weak transcription	Pancreas	Pancrea
23	chr12:21790000-21808200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:21790200-21806000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:21791000-21807600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:21791600-21807600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:21791800-21809400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:21792000-21807200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:21792400-21807200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:21793200-21807800	Strong transcription	Fetal Thymus	thymus
31	chr12:21793400-21805600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:21793600-21803600	Genic enhancers	Primary T cells from cord blood	blood
33	chr12:21793600-21803800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr12:21793600-21804000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:21793600-21804800	Strong transcription	Thymus	Thymus
36	chr12:21793600-21805600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr12:21793600-21806200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr12:21793600-21808000	Strong transcription	Fetal Muscle Leg	muscle
39	chr12:21794000-21803600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:21796000-21803800	Weak transcription	Aorta	Aorta
41	chr12:21796400-21805600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:21796600-21803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:21796600-21807800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:21796800-21802600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:21797000-21805200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:21797200-21803400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:21797200-21803400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:21797200-21803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:21797600-21803400	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:21797800-21803800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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