Variant report

Variant	rs7014654
Chromosome Location	chr8:121825284-121825285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	MBD4	chr8:121824179-121826100	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
4	TEAD4	chr8:121825282-121825852	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr8:121825240-121826042	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:121825275-121825584	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:121824088-121826944	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
10	EP300	chr8:121825224-121826020	ECC-1	luminal epithelium:	n/a	chr8:121825647-121825656
11	TEAD4	chr8:121824933-121825856	HepG2	liver:	n/a	n/a
12	TCF12	chr8:121825227-121826060	ECC-1	luminal epithelium:	n/a	n/a
13	HEY1	chr8:121821709-121826887	HepG2	liver:	n/a	n/a
14	NFIC	chr8:121825059-121825525	HepG2	liver:	n/a	n/a
15	MYBL2	chr8:121824709-121825573	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:121821791-121826419	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTBP-5	chr8:121824459-121825599	ENSG00000272502.1

No data

Variant related genes	Relation type
SNTB1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4409434	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4623472	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4642694	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870753	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871133	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871134	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6994318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994902	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7013980	0.85[ASN][1000 genomes]
rs7014184	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73707183	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73707184	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3323996	chr8:121822996-121825544	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121822600-121825600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:121824400-121825600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:121824600-121825400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:121824800-121825400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
5	chr8:121824800-121825400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:121824800-121825800	Enhancers	Hela-S3	cervix
7	chr8:121824800-121826200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:121824800-121826800	Enhancers	Esophagus	oesophagus
9	chr8:121824800-121827400	Weak transcription	Psoas Muscle	Psoas
10	chr8:121825000-121825400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:121825000-121825400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr8:121825000-121825600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:121825000-121825600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121825000-121825600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:121825000-121825600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:121825000-121825600	Enhancers	HSMM	muscle
17	chr8:121825000-121826200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:121825000-121826200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:121825000-121826600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:121825000-121826600	Flanking Active TSS	HepG2	liver
21	chr8:121825000-121826600	Enhancers	NHDF-Ad	bronchial
22	chr8:121825000-121827400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:121825000-121827400	Weak transcription	NH-A	brain
24	chr8:121825200-121825400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:121825200-121825400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr8:121825200-121825400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr8:121825200-121825400	Active TSS	Fetal Intestine Small	intestine
28	chr8:121825200-121825600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr8:121825200-121825600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr8:121825200-121825600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:121825200-121825600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:121825200-121825600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:121825200-121825600	Enhancers	Liver	Liver
34	chr8:121825200-121825600	Enhancers	Fetal Intestine Large	intestine
35	chr8:121825200-121825600	Flanking Active TSS	Fetal Kidney	kidney
36	chr8:121825200-121825600	Enhancers	HSMMtube	muscle
37	chr8:121825200-121825800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr8:121825200-121825800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:121825200-121825800	Enhancers	NHLF	lung
40	chr8:121825200-121826000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:121825200-121826000	Enhancers	Osteobl	bone
42	chr8:121825200-121828600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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