Variant report

Variant	rs548301958
Chromosome Location	chr7:116619897-116619898
allele	G/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116589933..116591821-chr7:116618014..116619931,2	K562	blood:
2	7:115847372-115857098..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
3	chr7:116619639..116622384-chr7:116623260..116627273,4	K562	blood:
4	7:115929516-115931284..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
5	chr7:116612736..116614667-chr7:116618659..116620509,2	MCF-7	breast:
6	7:115861595-115870968..7:116619447-116625476	Hela-S3	cervix:
7	7:116434729-116454408..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
8	7:116604327-116608063..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
9	chr7:116615230..116617091-chr7:116619480..116621250,2	K562	blood:
10	7:116619447-116625476..7:116728195-116740907	K562	blood:
11	chr7:116591116..116596210-chr7:116619506..116625274,6	K562	blood:
12	7:116619447-116625476..7:116754962-116765597	GM12878	blood:
13	7:115890993-115892266..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000228368	Chromatin interaction
ENSG00000105971	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000214188	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1005081	chr7:116618938-116626233	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:116597000-116641600	Weak transcription	Ovary	ovary
4	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
5	chr7:116600600-116620200	Weak transcription	Lung	lung
6	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:116607600-116632400	Weak transcription	Gastric	stomach
8	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
9	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
10	chr7:116610800-116626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:116611000-116621400	Weak transcription	Fetal Heart	heart
12	chr7:116612000-116632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:116612200-116623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:116612200-116628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:116612800-116623600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:116613000-116623400	Weak transcription	Left Ventricle	heart
17	chr7:116613600-116635600	Weak transcription	Pancreas	Pancrea
18	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
19	chr7:116615200-116621600	Weak transcription	GM12878-XiMat	blood
20	chr7:116617000-116626600	Weak transcription	NHLF	lung
21	chr7:116617600-116622000	Weak transcription	HMEC	breast
22	chr7:116617600-116626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:116618200-116620000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:116618200-116623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:116618400-116626200	Weak transcription	NHDF-Ad	bronchial
26	chr7:116619000-116620400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:116619200-116620200	Enhancers	NHEK	skin
28	chr7:116619400-116620800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:116619600-116621000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:116619600-116627000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:116619800-116620200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:116619800-116627000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:116619800-116627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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