Variant report

Variant	rs562850058
Chromosome Location	chr14:31711401-31711402
allele	A/C
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	IRF1	chr14:31711376-31711664	K562	blood:	n/a	n/a
2	SRF	chr14:31711321-31711825	HepG2	liver:	n/a	chr14:31711633-31711651
3	SRF	chr14:31711387-31711717	K562	blood:	n/a	chr14:31711633-31711651
4	SRF	chr14:31711265-31711772	ECC-1	luminal epithelium:	n/a	chr14:31711633-31711651

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31705909..31709311-chr14:31711142..31713834,3	K562	blood:
2	chr14:31705909..31710425-chr14:31710546..31713834,4	K562	blood:

Variant related genes	Relation type
ENSG00000202402	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31712800	Weak transcription	Lung	lung
2	chr14:31707800-31713400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
4	chr14:31709000-31713800	Enhancers	K562	blood
5	chr14:31710200-31712000	Enhancers	HepG2	liver
6	chr14:31710600-31711600	Enhancers	Colon Smooth Muscle	Colon
7	chr14:31710600-31715200	Enhancers	Stomach Mucosa	stomach
8	chr14:31710800-31711600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:31710800-31711600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:31710800-31711600	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr14:31710800-31711800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:31710800-31711800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:31710800-31711800	Enhancers	Left Ventricle	heart
14	chr14:31710800-31711800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:31710800-31712000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:31710800-31712000	Enhancers	HMEC	breast
17	chr14:31710800-31712200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:31710800-31712400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:31711000-31711600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:31711000-31711600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:31711000-31711600	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:31711000-31711600	Enhancers	Small Intestine	intestine
23	chr14:31711000-31711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:31711000-31711800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:31711000-31711800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:31711000-31711800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr14:31711200-31711600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:31711200-31711600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:31711200-31711600	Enhancers	Liver	Liver
30	chr14:31711200-31711600	Weak transcription	Fetal Lung	lung
31	chr14:31711200-31711600	Active TSS	Right Atrium	heart
32	chr14:31711200-31711800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:31711200-31711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:31711200-31711800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:31711200-31712000	Weak transcription	Spleen	Spleen
36	chr14:31711400-31711600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr14:31711400-31711600	Active TSS	Osteobl	bone
38	chr14:31711400-31711800	Active TSS	Ovary	ovary
39	chr14:31711400-31711800	Active TSS	Stomach Smooth Muscle	stomach
40	chr14:31711400-31712000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:31711400-31712000	Enhancers	NHLF	lung
42	chr14:31711400-31712400	Weak transcription	Esophagus	oesophagus
43	chr14:31711400-31712400	Weak transcription	Hela-S3	cervix
44	chr14:31711400-31713000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:31711400-31713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:31711400-31714000	Weak transcription	A549	lung
47	chr14:31711400-31716600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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