Variant report

Variant	rs57314223
Chromosome Location	chr12:45626563-45626564
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45619649..45622444-chr12:45625161..45628062,2	K562	blood:
2	chr12:45625947..45628207-chr12:45652068..45653846,2	MCF-7	breast:
3	chr12:45607453..45614844-chr12:45624389..45629866,11	K562	blood:
4	chr12:45608270..45616533-chr12:45619913..45631094,20	MCF-7	breast:
5	chr12:45626376..45630112-chr12:45635630..45638658,4	MCF-7	breast:
6	chr12:45626303..45628106-chr12:45750201..45751919,2	MCF-7	breast:
7	chr12:45613975..45618238-chr12:45622905..45626980,4	MCF-7	breast:
8	chr12:45608440..45613952-chr12:45624018..45631221,10	MCF-7	breast:
9	chr12:45620175..45623009-chr12:45625833..45628056,2	MCF-7	breast:
10	chr12:45624306..45626903-chr12:46122276..46124335,2	MCF-7	breast:
11	chr12:45625441..45631111-chr12:45668814..45675582,6	MCF-7	breast:
12	chr12:45625766..45629467-chr12:45675676..45680562,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57266792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57732899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59569841	1.00[AMR][1000 genomes]
rs60840825	1.00[AMR][1000 genomes]
rs73275006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275009	1.00[AMR][1000 genomes]
rs73275021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279279	1.00[AMR][1000 genomes]
rs73279288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279680	1.00[AMR][1000 genomes]
rs73279683	1.00[AMR][1000 genomes]
rs73281306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281425	1.00[AMR][1000 genomes]
rs73281431	1.00[AMR][1000 genomes]
rs73281450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281453	1.00[AMR][1000 genomes]
rs73281454	1.00[AMR][1000 genomes]
rs73293360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293377	0.96[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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:45613800-45628400	Weak transcription	Lung	lung
5	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45614000-45627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:45614400-45628800	Weak transcription	Spleen	Spleen
12	chr12:45614400-45629000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45614400-45639600	Weak transcription	Dnd41	blood
14	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
15	chr12:45614800-45627400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:45614800-45629000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:45615000-45628400	Weak transcription	Esophagus	oesophagus
18	chr12:45617000-45628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:45618000-45628000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:45618200-45627400	Weak transcription	Liver	Liver
21	chr12:45619000-45626600	Weak transcription	Ovary	ovary
22	chr12:45620200-45626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:45620200-45628200	Weak transcription	Fetal Kidney	kidney
24	chr12:45621200-45626800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:45622800-45628000	Weak transcription	Fetal Stomach	stomach
26	chr12:45623000-45627400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:45623200-45628000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:45624600-45626600	Enhancers	NHEK	skin
29	chr12:45624600-45630000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:45624800-45628000	Enhancers	HepG2	liver
31	chr12:45624800-45628200	Enhancers	HMEC	breast
32	chr12:45624800-45628800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:45624800-45629800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:45624800-45630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:45625000-45627400	Enhancers	Small Intestine	intestine
36	chr12:45625000-45627600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:45625000-45627800	Enhancers	NHLF	lung
38	chr12:45625000-45629000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:45625000-45629600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:45625200-45626800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:45625200-45627600	Flanking Active TSS	NH-A	brain
42	chr12:45625200-45627800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:45625200-45628000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:45625200-45628000	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:45625200-45628200	Flanking Active TSS	A549	lung
46	chr12:45625200-45629800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:45625200-45629800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:45625200-45629800	Enhancers	Fetal Heart	heart
49	chr12:45625200-45630000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:45625200-45630000	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links