Variant report

Variant	rs57946627
Chromosome Location	chr12:48295181-48295182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48293420..48296418-chr12:48372974..48374777,2	K562	blood:
2	chr12:48293537..48295353-chr12:48342553..48343953,18	MCF-7	breast:
3	chr12:48295052..48296721-chr12:48395942..48397721,2	MCF-7	breast:
4	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
5	chr12:48244275..48246412-chr12:48294986..48297524,2	MCF-7	breast:
6	chr12:48294511..48296971-chr12:48414193..48417151,2	MCF-7	breast:
7	chr12:48270125..48272257-chr12:48295028..48297755,2	MCF-7	breast:
8	chr12:48254834..48256905-chr12:48293937..48296372,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM106C-2	chr12:48294959-48295308	ENSG00000205537.2

No data

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58379944	0.97[AFR][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
3	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:48293000-48296800	Enhancers	Fetal Intestine Large	intestine
8	chr12:48293000-48297200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:48293200-48295800	Enhancers	Primary T cells from cord blood	blood
10	chr12:48293200-48297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:48293400-48295200	Genic enhancers	Fetal Intestine Small	intestine
16	chr12:48293400-48296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:48293400-48296400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:48293400-48297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus
20	chr12:48293400-48297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:48293400-48297600	Enhancers	Lung	lung
22	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:48293400-48298400	Enhancers	Gastric	stomach
26	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach
27	chr12:48293600-48295200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:48293600-48295400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:48293600-48296600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:48293600-48297000	Enhancers	Primary B cells from cord blood	blood
31	chr12:48293600-48297200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:48293600-48297400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:48293600-48297800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:48293600-48297800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:48293800-48295600	Enhancers	GM12878-XiMat	blood
36	chr12:48293800-48296800	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:48293800-48297000	Weak transcription	Small Intestine	intestine
38	chr12:48294000-48295400	Enhancers	Placenta	Placenta
39	chr12:48294000-48296000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:48294000-48297200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:48294200-48295200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:48294200-48295400	Enhancers	Fetal Thymus	thymus
43	chr12:48294200-48296000	Enhancers	Osteobl	bone
44	chr12:48294200-48296200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:48294200-48296400	Enhancers	NHDF-Ad	bronchial
46	chr12:48294200-48296600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:48294200-48296800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr12:48294200-48296800	Enhancers	Hela-S3	cervix
49	chr12:48294200-48298800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:48294400-48295200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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