Variant report

Variant	rs2114897
Chromosome Location	chr12:21797595-21797596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21784249..21785911-chr12:21797410..21799380,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1616506	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1650281	0.84[AFR][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:123 , 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	chr12:21783800-21801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:21785000-21801400	Strong transcription	Dnd41	blood
5	chr12:21785200-21798600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:21785400-21797600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:21785400-21805200	Strong transcription	GM12878-XiMat	blood
8	chr12:21785800-21807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:21786200-21797600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:21786200-21807000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:21786400-21807800	Strong transcription	Osteobl	bone
12	chr12:21786800-21799200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:21787000-21801400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:21787200-21798400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:21787200-21806800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr12:21787200-21807400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:21787200-21807600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:21787200-21808200	Strong transcription	NH-A	brain
24	chr12:21787200-21808600	Strong transcription	HMEC	breast
25	chr12:21787200-21808600	Strong transcription	HSMM	muscle
26	chr12:21787400-21803800	Strong transcription	HUVEC	blood vessel
27	chr12:21787600-21797800	Strong transcription	Hela-S3	cervix
28	chr12:21787800-21801800	Strong transcription	NHDF-Ad	bronchial
29	chr12:21788000-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:21788600-21810000	Weak transcription	Liver	Liver
31	chr12:21788800-21798000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:21788800-21798000	Weak transcription	Spleen	Spleen
33	chr12:21788800-21798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:21788800-21798400	Weak transcription	Gastric	stomach
35	chr12:21788800-21801400	Weak transcription	Right Ventricle	heart
36	chr12:21788800-21803800	Weak transcription	Esophagus	oesophagus
37	chr12:21788800-21803800	Weak transcription	Pancreas	Pancrea
38	chr12:21789000-21798200	Weak transcription	Lung	lung
39	chr12:21790000-21808200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:21790200-21806000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:21791000-21797800	Strong transcription	K562	blood
42	chr12:21791000-21807600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:21791600-21807600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:21791800-21809400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:21792000-21798600	Weak transcription	Fetal Intestine Small	intestine
46	chr12:21792000-21807200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:21792400-21797800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:21792400-21807200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:21792600-21800400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:21793200-21807800	Strong transcription	Fetal Thymus	thymus

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