Variant report

Variant	rs12143491
Chromosome Location	chr1:211754018-211754019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:211753921-211754605	MCF10A-Er-Src	breast:	n/a	n/a
2	NR2F2	chr1:211750771-211754050	K562	blood:	n/a	n/a
3	MXI1	chr1:211750500-211754436	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211498857..211501622-chr1:211752568..211754249,2	K562	blood:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
4	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:
5	chr1:211752607..211754839-chr1:211771160..211773503,2	K562	blood:
6	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:

No data

Variant related genes	Relation type
SLC30A1	TF binding region
ENSG00000222080	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000228792	Chromatin interaction

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

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

rs_ID	r²[population]
rs11119774	0.81[ASN][1000 genomes]
rs2099949	0.89[ASN][1000 genomes]
rs34414069	0.89[ASN][1000 genomes]
rs55954804	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1791933	chr1:211751208-211755204	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv1793880	chr1:211751208-211755204	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv3403046	chr1:211751354-211754202	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv1799275	chr1:211751816-211754866	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211753200-211755600	Enhancers	Small Intestine	intestine
2	chr1:211753200-211757000	Weak transcription	Spleen	Spleen
3	chr1:211753400-211754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:211753400-211754600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:211753400-211755200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:211753400-211755200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:211753400-211755400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:211753400-211755600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:211753400-211755800	Enhancers	NH-A	brain
10	chr1:211753400-211756800	Weak transcription	Aorta	Aorta
11	chr1:211753400-211757000	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:211753400-211757000	Enhancers	Adipose Nuclei	Adipose
13	chr1:211753400-211757000	Weak transcription	Right Atrium	heart
14	chr1:211753400-211757600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:211753600-211754200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:211753600-211754200	Enhancers	Fetal Heart	heart
17	chr1:211753600-211754400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:211753600-211755000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:211753600-211755000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:211753600-211755400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:211753600-211755600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:211753600-211755600	Enhancers	NHLF	lung
23	chr1:211753600-211756000	Enhancers	Colon Smooth Muscle	Colon
24	chr1:211753600-211756400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:211753600-211756800	Enhancers	Osteobl	bone
26	chr1:211753600-211757200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:211753800-211754200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:211753800-211754200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:211753800-211754200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:211753800-211754400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:211753800-211754600	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:211753800-211754800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:211753800-211754800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:211753800-211754800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:211753800-211754800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:211753800-211754800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:211753800-211754800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:211753800-211754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:211753800-211754800	Weak transcription	GM12878-XiMat	blood
40	chr1:211753800-211754800	Weak transcription	NHDF-Ad	bronchial
41	chr1:211753800-211755000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:211753800-211755000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:211753800-211755000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:211753800-211755000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:211753800-211755000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:211753800-211755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:211753800-211755000	Weak transcription	HSMMtube	muscle
48	chr1:211753800-211755000	Enhancers	K562	blood
49	chr1:211753800-211755200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:211753800-211755200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links