Variant report

Variant	rs1690263
Chromosome Location	chr12:65094224-65094225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:65092733-65096311	K562	blood:	n/a	n/a
2	POLR2A	chr12:65093373-65094224	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65093049..65095216-chr12:65172797..65175197,2	MCF-7	breast:
2	chr12:64941125..64942989-chr12:65093571..65096537,2	K562	blood:
3	chr12:65093927..65096281-chr12:65098108..65100332,2	MCF-7	breast:
4	chr12:65093066..65095895-chr12:65173325..65175919,2	MCF-7	breast:
5	chr12:65065244..65066840-chr12:65091744..65094557,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268028	TF binding region
ENSG00000111490	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1269549	0.87[ASN][1000 genomes]
rs15958	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1690264	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65075000-65108400	Weak transcription	NH-A	brain
2	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
5	chr12:65081800-65100400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:65082400-65094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:65085600-65106200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:65086000-65100000	Weak transcription	Psoas Muscle	Psoas
9	chr12:65086000-65100200	Weak transcription	Right Atrium	heart
10	chr12:65086200-65094800	Weak transcription	NHDF-Ad	bronchial
11	chr12:65086400-65107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:65087200-65108200	Weak transcription	Osteobl	bone
13	chr12:65088200-65100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:65088200-65109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:65088800-65100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:65089000-65094600	Weak transcription	Small Intestine	intestine
17	chr12:65089000-65108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:65089000-65109400	Weak transcription	Ovary	ovary
19	chr12:65089400-65100600	Weak transcription	NHEK	skin
20	chr12:65089400-65100800	Weak transcription	HMEC	breast
21	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
22	chr12:65089600-65096600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:65089600-65100000	Weak transcription	HSMMtube	muscle
24	chr12:65089600-65100200	Weak transcription	Left Ventricle	heart
25	chr12:65089600-65100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:65089600-65103000	Weak transcription	Lung	lung
27	chr12:65089600-65107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:65089600-65108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:65089600-65109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:65089600-65109600	Weak transcription	Gastric	stomach
31	chr12:65089600-65109600	Weak transcription	NHLF	lung
32	chr12:65089600-65109800	Weak transcription	Thymus	Thymus
33	chr12:65089600-65113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:65089800-65096000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:65089800-65100200	Weak transcription	Placenta	Placenta
36	chr12:65089800-65100200	Weak transcription	Spleen	Spleen
37	chr12:65089800-65101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:65089800-65113200	Weak transcription	Right Ventricle	heart
39	chr12:65090200-65094800	Weak transcription	Fetal Kidney	kidney
40	chr12:65090200-65100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:65090200-65100600	Weak transcription	HepG2	liver
42	chr12:65090200-65107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:65090200-65108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:65090200-65108600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:65090200-65109400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:65090200-65109800	Weak transcription	K562	blood
47	chr12:65090200-65114600	Weak transcription	Aorta	Aorta
48	chr12:65090400-65095000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:65090400-65097200	Weak transcription	Stomach Mucosa	stomach
50	chr12:65090400-65100000	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links