Variant report

Variant	rs12814301
Chromosome Location	chr12:1776743-1776744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1769849..1773599-chr12:1775643..1780093,7	K562	blood:
2	chr12:1775192..1776787-chr12:1778415..1781197,2	K562	blood:
3	chr12:1770529..1774414-chr12:1775801..1779567,5	K562	blood:
4	chr12:1774859..1776787-chr12:1777892..1781197,3	K562	blood:
5	chr12:1774567..1781960-chr12:1797936..1801472,7	MCF-7	breast:
6	chr12:1776467..1778477-chr12:1799080..1801498,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12370189	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12819791	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1771400-1777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:1771400-1777800	Weak transcription	GM12878-XiMat	blood
3	chr12:1771600-1778000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:1772200-1778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:1772600-1778200	Weak transcription	Lung	lung
6	chr12:1773800-1778600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:1774000-1777000	Enhancers	Fetal Intestine Large	intestine
8	chr12:1774000-1778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:1774000-1778200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:1774200-1778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:1774400-1778200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:1774400-1778200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:1774600-1777600	Weak transcription	Thymus	Thymus
14	chr12:1774600-1777800	Weak transcription	Hela-S3	cervix
15	chr12:1775200-1776800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:1775200-1777200	Enhancers	Adipose Nuclei	Adipose
17	chr12:1775200-1778200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:1775200-1778400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:1775200-1778600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:1775200-1779600	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:1775200-1780000	Enhancers	Fetal Thymus	thymus
22	chr12:1775200-1780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:1775200-1781200	Enhancers	Fetal Intestine Small	intestine
24	chr12:1775400-1776800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:1775400-1777000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:1775400-1777000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:1775600-1776800	Flanking Active TSS	Liver	Liver
28	chr12:1775600-1777000	Enhancers	Primary B cells from cord blood	blood
29	chr12:1775600-1777200	Enhancers	Stomach Mucosa	stomach
30	chr12:1775600-1777800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:1775600-1777800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:1775600-1779400	Enhancers	Fetal Heart	heart
33	chr12:1776000-1777000	Enhancers	Right Ventricle	heart
34	chr12:1776000-1777200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:1776000-1777200	Enhancers	Pancreas	Pancrea
36	chr12:1776200-1776800	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:1776200-1776800	Enhancers	Right Atrium	heart
38	chr12:1776200-1777400	Enhancers	Colonic Mucosa	Colon
39	chr12:1776200-1777600	Weak transcription	HUVEC	blood vessel
40	chr12:1776200-1778000	Weak transcription	Placenta	Placenta
41	chr12:1776200-1778000	Enhancers	Left Ventricle	heart
42	chr12:1776200-1778000	Enhancers	K562	blood
43	chr12:1776200-1778200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:1776400-1777400	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:1776400-1777400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr12:1776400-1777800	Weak transcription	Primary T cells from cord blood	blood
47	chr12:1776400-1777800	Weak transcription	Brain Angular Gyrus	brain
48	chr12:1776400-1777800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:1776400-1777800	Weak transcription	Brain Substantia Nigra	brain
50	chr12:1776400-1777800	Enhancers	Monocytes-CD14+_RO01746	blood

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