Variant report

Variant	nsv977456
Chromosome Location	chr14:35855022-35858707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:35855979-35856332	K562	blood:	n/a	n/a
2	ATF1	chr14:35855966-35856338	K562	blood:	n/a	n/a
3	BHLHE40	chr14:35853919-35855049	HepG2	liver:	n/a	n/a
4	BHLHE40	chr14:35855829-35856204	K562	blood:	n/a	n/a
5	CEBPB	chr14:35858173-35858535	HepG2	liver:	n/a	chr14:35858359-35858372 chr14:35858359-35858370
6	CEBPB	chr14:35854716-35855268	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr14:35858168-35858535	A549	lung:	n/a	chr14:35858359-35858372 chr14:35858359-35858370
8	CEBPB	chr14:35858196-35858522	IMR90	lung:	n/a	chr14:35858359-35858372 chr14:35858359-35858370
9	CEBPB	chr14:35854809-35855169	Hela-S3	cervix:	n/a	n/a
10	CEBPD	chr14:35853917-35855111	HepG2	liver:	n/a	n/a
11	CHD1	chr14:35852845-35855340	IMR90	lung:	n/a	n/a
12	CHD2	chr14:35854712-35855153	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr14:35855822-35856109	K562	blood:	n/a	n/a
14	CHD2	chr14:35853899-35855164	HepG2	liver:	n/a	n/a
15	CREB1	chr14:35854836-35855201	A549	lung:	n/a	n/a
16	CTCF	chr14:35856200-35856350	BE2_C	brain:	n/a	n/a
17	E2F6	chr14:35854853-35855111	K562	blood:	n/a	n/a
18	ELF1	chr14:35853388-35855076	HepG2	liver:	n/a	n/a
19	ELK1	chr14:35854919-35855213	Hela-S3	cervix:	n/a	n/a
20	EP300	chr14:35854550-35855401	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr14:35856929-35857223	K562	blood:	n/a	n/a
22	EP300	chr14:35858279-35859062	ECC-1	luminal epithelium:	n/a	chr14:35858360-35858374
23	EP300	chr14:35856256-35856527	K562	blood:	n/a	n/a
24	EP300	chr14:35854671-35855353	A549	lung:	n/a	n/a
25	EP300	chr14:35854590-35855300	A549	lung:	n/a	n/a
26	EP300	chr14:35855970-35856214	GM12878	blood:	n/a	n/a
27	EP300	chr14:35854341-35855499	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chr14:35858381-35858908	ECC-1	luminal epithelium:	n/a	n/a
29	EP300	chr14:35855831-35856343	K562	blood:	n/a	n/a
30	EP300	chr14:35854739-35855096	SK-N-SH_RA	brain:	n/a	n/a
31	ESR1	chr14:35858494-35858793	ECC-1	luminal epithelium:	n/a	n/a
32	ESR1	chr14:35854776-35855215	ECC-1	luminal epithelium:	n/a	n/a
33	ESR1	chr14:35854728-35855229	ECC-1	luminal epithelium:	n/a	n/a
34	ESR1	chr14:35854645-35855213	ECC-1	luminal epithelium:	n/a	n/a
35	FOS	chr14:35854858-35855055	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr14:35854859-35855059	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr14:35854913-35855027	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA1	chr14:35855709-35856312	T-47D	breast:	n/a	n/a
39	FOXA1	chr14:35855952-35856257	T-47D	breast:	n/a	n/a
40	FOXM1	chr14:35854531-35855399	ECC-1	luminal epithelium:	n/a	n/a
41	FOXP2	chr14:35854804-35855092	SK-N-MC	brain:	n/a	n/a
42	GTF2B	chr14:35855845-35856327	K562	blood:	n/a	n/a
43	GTF2F1	chr14:35855895-35856297	K562	blood:	n/a	n/a
44	GTF2F1	chr14:35854756-35855181	Hela-S3	cervix:	n/a	n/a
45	HCFC1	chr14:35855940-35856291	K562	blood:	n/a	n/a
46	HCFC1	chr14:35856597-35856623	K562	blood:	n/a	n/a
47	HDAC2	chr14:35855843-35856192	K562	blood:	n/a	n/a
48	HDAC2	chr14:35853401-35855161	HepG2	liver:	n/a	chr14:35853962-35853970
49	HEY1	chr14:35855758-35856027	K562	blood:	n/a	n/a
50	HEY1	chr14:35854073-35855133	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35853630..35855613-chr14:35858688..35861464,2	K562	blood:
2	chr14:35850100..35852410-chr14:35853864..35856080,2	K562	blood:
3	chr14:35590854..35592672-chr14:35853334..35855525,2	MCF-7	breast:
4	chr14:35853630..35855613-chr14:35858688..35861464,2	K562	blood:
5	chr14:35853811..35865065-chr14:35868487..35875838,31	K562	blood:
6	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
7	chr14:35760513..35762912-chr14:35858124..35860393,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240023	TF binding region
ENSG00000100890	chromatin interactions
ENSG00000100902	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000258790	chromatin interactions
ENSG00000265530	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146458847	chr14:35855046-35855047	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs549577655	chr14:35855147-35855148	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs190869230	chr14:35855161-35855162	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs539165989	chr14:35855192-35855193	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369161561	chr14:35855198-35855199	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs140784284	chr14:35855205-35855206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs539636756	chr14:35855209-35855210	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs7142413	chr14:35855230-35855231	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs146756119	chr14:35855242-35855243	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs200960701	chr14:35855296-35855297	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs557603947	chr14:35855297-35855298	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs568236870	chr14:35855332-35855333	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs183045746	chr14:35855372-35855373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs113528366	chr14:35855407-35855408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
15	rs577212711	chr14:35855410-35855411	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs150379264	chr14:35855427-35855428	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs188641415	chr14:35855428-35855429	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs34717220	chr14:35855443-35855444	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573177874	chr14:35855456-35855457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs192781964	chr14:35855539-35855540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561960161	chr14:35855545-35855546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530969005	chr14:35855611-35855612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9743508	chr14:35855612-35855613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563235010	chr14:35855640-35855641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543448981	chr14:35855660-35855661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532175294	chr14:35855669-35855670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184816945	chr14:35855679-35855680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566010123	chr14:35855702-35855703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs386776420	chr14:35855706-35855707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9743511	chr14:35855707-35855708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544008851	chr14:35855739-35855740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138010606	chr14:35855763-35855764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536848696	chr14:35855788-35855789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs55804994	chr14:35855829-35855830	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562616407	chr14:35855830-35855831	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575718893	chr14:35855839-35855840	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546423266	chr14:35855858-35855859	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557466959	chr14:35855866-35855867	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149515330	chr14:35855874-35855875	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528834668	chr14:35855904-35855905	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539847578	chr14:35855930-35855931	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547012161	chr14:35855988-35855989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552970067	chr14:35856031-35856032	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561968813	chr14:35856038-35856039	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28394050	chr14:35856045-35856046	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146476092	chr14:35856068-35856069	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187681588	chr14:35856087-35856088	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554225091	chr14:35856121-35856122	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544471791	chr14:35856138-35856139	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563433198	chr14:35856151-35856152	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	20164920	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35852200-35855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35852400-35855200	Enhancers	Psoas Muscle	Psoas
3	chr14:35852400-35855600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr14:35852400-35855800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:35852400-35856200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:35852400-35856200	Enhancers	Fetal Muscle Leg	muscle
7	chr14:35852600-35855400	Enhancers	Fetal Intestine Small	intestine
8	chr14:35852600-35855400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr14:35852600-35856400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:35852800-35855200	Enhancers	Colonic Mucosa	Colon
11	chr14:35852800-35855200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr14:35852800-35855200	Enhancers	Stomach Mucosa	stomach
13	chr14:35852800-35855200	Enhancers	Spleen	Spleen
14	chr14:35852800-35855400	Enhancers	Fetal Intestine Large	intestine
15	chr14:35852800-35855400	Enhancers	HUVEC	blood vessel
16	chr14:35852800-35855400	Enhancers	Osteobl	bone
17	chr14:35852800-35855600	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:35852800-35855600	Enhancers	Fetal Stomach	stomach
19	chr14:35852800-35855600	Enhancers	Left Ventricle	heart
20	chr14:35852800-35855600	Enhancers	NHLF	lung
21	chr14:35852800-35856200	Enhancers	Adipose Nuclei	Adipose
22	chr14:35852800-35856400	Enhancers	Fetal Heart	heart
23	chr14:35852800-35856600	Enhancers	NHDF-Ad	bronchial
24	chr14:35852800-35857200	Enhancers	Ovary	ovary
25	chr14:35852800-35857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:35853000-35855200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr14:35853000-35855200	Enhancers	Right Atrium	heart
28	chr14:35853000-35855400	Enhancers	Fetal Thymus	thymus
29	chr14:35853000-35855600	Enhancers	Brain Hippocampus Middle	brain
30	chr14:35853000-35855600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:35853000-35855600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:35853000-35855600	Enhancers	Lung	lung
33	chr14:35853000-35855600	Enhancers	NH-A	brain
34	chr14:35853000-35856000	Enhancers	Right Ventricle	heart
35	chr14:35853200-35855200	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr14:35853200-35855400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:35853200-35855400	Enhancers	Brain Angular Gyrus	brain
38	chr14:35853200-35855600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:35853200-35856000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:35853200-35856000	Enhancers	HSMMtube	muscle
41	chr14:35853200-35856400	Enhancers	Brain Substantia Nigra	brain
42	chr14:35853400-35855200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:35853400-35855200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:35853400-35855200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:35853400-35856000	Enhancers	Brain Cingulate Gyrus	brain
46	chr14:35853400-35856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:35853400-35856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:35853600-35855600	Enhancers	Aorta	Aorta
49	chr14:35853600-35856200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:35853600-35856400	Enhancers	NHEK	skin

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