Variant report

Variant	rs190476731
Chromosome Location	chr14:24503992-24503993
allele	C/T
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	MYBL2	chr14:24503251-24504248	HepG2	liver:	n/a	n/a
2	CTCF	chr14:24503935-24504035	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:24503931-24504031	Fibrobl	skin:	n/a	n/a
4	CEBPB	chr14:24503873-24504233	HepG2	liver:	n/a	n/a
5	CTCF	chr14:24503881-24503995	HepG2	liver:	n/a	n/a
6	CTCF	chr14:24503342-24504072	MCF-7	breast:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
7	SMC3	chr14:24503384-24504044	HepG2	liver:	n/a	chr14:24503512-24503526
8	RAD21	chr14:24503757-24504059	HepG2	liver:	n/a	n/a
9	CTCF	chr14:24503936-24504033	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:24503939-24504014	A549	lung:	n/a	n/a
11	CTCF	chr14:24503936-24503996	MCF-7	breast:	n/a	n/a
12	RAD21	chr14:24503736-24504019	A549	lung:	n/a	n/a
13	CTCF	chr14:24503258-24504105	HepG2	liver:	n/a	chr14:24503511-24503527 chr14:24503510-24503528
14	RAD21	chr14:24503332-24504179	HepG2	liver:	n/a	chr14:24503508-24503527
15	CTCF	chr14:24503952-24504006	MCF-7	breast:	n/a	n/a
16	CTCF	chr14:24503750-24504019	HepG2	liver:	n/a	n/a
17	RAD21	chr14:24503382-24504108	HepG2	liver:	n/a	chr14:24503508-24503527
18	CTCF	chr14:24503732-24504143	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24503791..24508058-chr14:24562194..24566408,5	MCF-7	breast:
2	chr14:24482946..24483934-chr14:24503845..24504435,3	MCF-7	breast:
3	chr14:24482659..24484974-chr14:24503307..24504865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225766	TF binding region
ENSG00000129535	Chromatin interaction
ENSG00000100889	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1217	chr14:24400565-24512689	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	esv2761633	chr14:24423582-24513917	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv564047	chr14:24428509-24525634	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv901497	chr14:24429249-24514449	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv33403	chr14:24429613-24505105	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv826901	chr14:24457315-24508468	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv91	chr14:24469668-24504712	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv1048292	chr14:24474511-24513905	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv9126	chr14:24475840-24505714	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv1049192	chr14:24478882-24519250	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	nsv1037929	chr14:24478882-24522447	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	nsv1052857	chr14:24479375-24513905	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	nsv1047042	chr14:24484459-24513905	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv1038839	chr14:24488131-24510197	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv1044763	chr14:24488131-24513905	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	nsv1051893	chr14:24488131-24519250	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	nsv1043854	chr14:24488131-24522447	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
22	nsv1049849	chr14:24488384-24513905	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv1038278	chr14:24494063-24513905	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
25	nsv1042507	chr14:24494153-24513905	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
26	nsv983808	chr14:24503854-24523979	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24501800-24505200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:24501800-24505200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:24502000-24504000	Enhancers	Liver	Liver
4	chr14:24502000-24504400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:24502000-24505200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:24502000-24505200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:24502400-24505400	Weak transcription	HMEC	breast
8	chr14:24502600-24504200	Weak transcription	Hela-S3	cervix
9	chr14:24502600-24505000	Weak transcription	Pancreas	Pancrea
10	chr14:24502600-24505200	Weak transcription	Osteobl	bone
11	chr14:24502600-24505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:24503000-24504000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:24503000-24505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:24503000-24505000	Enhancers	A549	lung
15	chr14:24503000-24505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:24503400-24504000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:24503400-24504000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:24503400-24504200	Flanking Active TSS	HepG2	liver
19	chr14:24503400-24504400	Weak transcription	Dnd41	blood
20	chr14:24503400-24505200	Enhancers	Fetal Thymus	thymus
21	chr14:24503600-24504000	Enhancers	Adipose Nuclei	Adipose
22	chr14:24503600-24505200	Weak transcription	Psoas Muscle	Psoas
23	chr14:24503600-24505400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:24503600-24505600	Weak transcription	NHLF	lung
25	chr14:24503800-24504000	Enhancers	Primary B cells from cord blood	blood
26	chr14:24503800-24505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:24503800-24505000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:24503800-24505000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:24503800-24505000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:24503800-24505000	Weak transcription	Fetal Lung	lung
31	chr14:24503800-24505000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:24503800-24505200	Enhancers	Fetal Intestine Large	intestine
33	chr14:24503800-24505200	Weak transcription	Placenta	Placenta
34	chr14:24503800-24505400	Weak transcription	Esophagus	oesophagus
35	chr14:24503800-24505600	Weak transcription	NHDF-Ad	bronchial

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