Variant report

Variant	rs530250623
Chromosome Location	chr1:161052469-161052470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:161052323-161054117	HCT-116	colon:	n/a	n/a
2	SP1	chr1:161052119-161054309	HCT-116	colon:	n/a	chr1:161053384-161053398 chr1:161052189-161052203

No.	Distal block	Cell Line	Cell type
1	chr1:161051876..161054238-chr1:161125249..161127981,2	K562	blood:
2	chr1:161051697..161056385-chr1:161085679..161090534,7	K562	blood:
3	chr1:161052309..161054886-chr1:161086826..161089196,2	MCF-7	breast:
4	chr1:161051125..161053415-chr1:161074658..161077254,2	MCF-7	breast:
5	chr1:161014972..161017157-chr1:161051557..161054618,4	MCF-7	breast:
6	chr1:161012288..161019472-chr1:161047717..161055328,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228917	TF binding region
ENSG00000143256	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv988172	chr1:161051918-161055508	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
2	chr1:161039800-161052600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:161039800-161053000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:161040200-161052600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:161040200-161052800	Weak transcription	Colonic Mucosa	Colon
6	chr1:161043600-161052800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:161045000-161053200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:161047400-161053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:161047600-161053000	Weak transcription	HepG2	liver
10	chr1:161049000-161055000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:161049200-161055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:161049400-161052800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:161049400-161053600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:161049400-161056400	Enhancers	HMEC	breast
15	chr1:161049400-161056600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:161049600-161054600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:161049800-161052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:161049800-161052800	Enhancers	Placenta	Placenta
19	chr1:161049800-161054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:161050000-161052800	Enhancers	NHEK	skin
21	chr1:161050000-161057800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:161050200-161055800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:161050400-161052800	Enhancers	Hela-S3	cervix
24	chr1:161050400-161053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:161050600-161053600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:161050800-161052800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:161050800-161052800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:161050800-161053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:161051000-161054800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:161051000-161055800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:161051200-161052600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:161051200-161052600	Weak transcription	Osteobl	bone
33	chr1:161051200-161052800	Weak transcription	NH-A	brain
34	chr1:161051200-161052800	Weak transcription	NHLF	lung
35	chr1:161051200-161053800	Enhancers	Stomach Mucosa	stomach
36	chr1:161051200-161055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:161051400-161052600	Weak transcription	HSMM	muscle
38	chr1:161051400-161052800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:161051400-161053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:161051600-161052600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:161051600-161052600	Weak transcription	HSMMtube	muscle
42	chr1:161051600-161052800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:161052200-161053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:161052200-161054400	Enhancers	Gastric	stomach
45	chr1:161052200-161058400	Enhancers	Pancreas	Pancrea
46	chr1:161052400-161052800	Enhancers	Esophagus	oesophagus
47	chr1:161052400-161054200	Enhancers	Lung	lung
48	chr1:161052400-161055400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:161052400-161055400	Enhancers	Fetal Intestine Small	intestine
50	chr1:161052400-161055400	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links