Variant report

Variant	rs214707
Chromosome Location	chr12:47616129-47616130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47473622..47475648-chr12:47613193..47617300,3	MCF-7	breast:
2	chr12:47614083..47616989-chr12:47658260..47660029,2	MCF-7	breast:
3	chr12:47613611..47616531-chr12:47785792..47787897,2	K562	blood:
4	chr12:47471464..47473049-chr12:47613997..47616979,2	MCF-7	breast:
5	chr12:47473378..47475019-chr12:47616001..47619116,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000179715	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs214694	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2524344	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs832709	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs866881	0.82[AMR][1000 genomes];0.83[ASN][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47600800-47616400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
6	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:47606600-47616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:47606800-47616600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:47608400-47616800	Weak transcription	Fetal Lung	lung
12	chr12:47609000-47616400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:47609400-47617000	Weak transcription	Pancreas	Pancrea
14	chr12:47610200-47616800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:47610600-47616800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:47610800-47616800	Weak transcription	HSMMtube	muscle
18	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:47611000-47617000	Weak transcription	Osteobl	bone
21	chr12:47611600-47616200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:47611800-47618000	Enhancers	HMEC	breast
23	chr12:47612000-47616600	Weak transcription	Right Ventricle	heart
24	chr12:47612200-47616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:47612400-47616400	Weak transcription	Colonic Mucosa	Colon
26	chr12:47612400-47616400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:47612400-47616400	Weak transcription	GM12878-XiMat	blood
28	chr12:47612400-47616600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:47612400-47616600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:47612400-47617000	Weak transcription	Lung	lung
31	chr12:47612400-47617000	Weak transcription	Spleen	Spleen
32	chr12:47612400-47617000	Weak transcription	HSMM	muscle
33	chr12:47612400-47628400	Weak transcription	Placenta	Placenta
34	chr12:47612800-47617200	Enhancers	NHEK	skin
35	chr12:47612800-47617800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:47613400-47616400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:47613400-47617000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:47613400-47617200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:47613600-47617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:47613800-47616200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:47614000-47616400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:47614000-47617800	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr12:47614200-47616400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:47614200-47617000	Enhancers	HepG2	liver
45	chr12:47614200-47617200	Enhancers	Hela-S3	cervix
46	chr12:47614200-47617400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:47614400-47616200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:47614400-47616400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:47614400-47616600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:47614600-47616400	Genic enhancers	Primary T cells fromperipheralblood	blood

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