Variant report

Variant	rs12298771
Chromosome Location	chr12:116977797-116977798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116976624..116978627-chr12:116982382..116983946,2	MCF-7	breast:
2	chr12:116666696..116668978-chr12:116975851..116977851,2	MCF-7	breast:
3	chr12:116972870..116975513-chr12:116976447..116979228,3	K562	blood:
4	chr12:116976160..116978024-chr12:116997996..116999867,2	K562	blood:
5	chr12:116972954..116976218-chr12:116977204..116983029,5	K562	blood:

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11068066	0.91[AFR][1000 genomes]
rs12302744	1.00[AFR][1000 genomes]
rs12303400	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306087	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116972400-116978400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:116972600-116977800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:116972800-116977800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:116972800-116980400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:116972800-116982000	Weak transcription	Ovary	ovary
6	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
7	chr12:116973600-116978200	Enhancers	Fetal Thymus	thymus
8	chr12:116973800-116978400	Enhancers	A549	lung
9	chr12:116974600-116978000	Enhancers	Spleen	Spleen
10	chr12:116974800-116978200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:116974800-116978600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:116975000-116978000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:116975000-116978400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:116975000-116978800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:116975000-116978800	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:116975200-116978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:116975400-116977800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:116975600-116984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:116976000-116978800	Enhancers	Fetal Kidney	kidney
20	chr12:116976200-116977800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:116976200-116978000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:116976200-116978200	Enhancers	Fetal Intestine Large	intestine
23	chr12:116976200-116978600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:116976200-116978600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:116976200-116978800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:116976200-116979400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:116976400-116977800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:116976400-116977800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:116976400-116978000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:116976400-116978000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:116976400-116978000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:116976400-116978000	Enhancers	Colonic Mucosa	Colon
33	chr12:116976400-116978000	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:116976400-116978000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:116976400-116978200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:116976400-116978400	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:116976400-116978400	Enhancers	Fetal Muscle Leg	muscle
38	chr12:116976400-116978400	Enhancers	HMEC	breast
39	chr12:116976400-116978800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:116976600-116978000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:116976600-116978000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:116976600-116978200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:116976600-116978800	Enhancers	Fetal Stomach	stomach
44	chr12:116976800-116977800	Enhancers	Colon Smooth Muscle	Colon
45	chr12:116976800-116978000	Enhancers	Brain Substantia Nigra	brain
46	chr12:116976800-116978200	Enhancers	Fetal Intestine Small	intestine
47	chr12:116976800-116978200	Enhancers	Hela-S3	cervix
48	chr12:116976800-116978800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:116977000-116978000	Enhancers	NH-A	brain
50	chr12:116977000-116978200	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links