Variant report

Variant	nsv974350
Chromosome Location	chr14:66475804-66480245
allele	n/a
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	BACH1	chr14:66475865-66476150	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:66477452-66477707	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:66475851-66476051	A549	lung:	n/a	n/a
4	CTCF	chr14:66475940-66476090	AG04449	skin:	n/a	n/a
5	CTCF	chr14:66480137-66480233	Medullo	brain:	n/a	n/a
6	CTCF	chr14:66480040-66480069	GM10248	blood:	n/a	n/a
7	CTCF	chr14:66479660-66479719	Kidney_OC	kidney:	n/a	n/a
8	FOS	chr14:66475841-66476207	MCF10A-Er-Src	breast:	n/a	chr14:66476017-66476025 chr14:66476015-66476027
9	FOS	chr14:66475845-66476261	MCF10A-Er-Src	breast:	n/a	chr14:66476017-66476025 chr14:66476015-66476027
10	FOS	chr14:66475842-66476222	MCF10A-Er-Src	breast:	n/a	chr14:66476017-66476025 chr14:66476015-66476027
11	FOS	chr14:66475845-66476262	MCF10A-Er-Src	breast:	n/a	chr14:66476017-66476025 chr14:66476015-66476027
12	FOSL2	chr14:66477410-66477714	HepG2	liver:	n/a	n/a
13	FOXA1	chr14:66477496-66477706	HepG2	liver:	n/a	n/a
14	FOXP2	chr14:66475785-66476160	SK-N-MC	brain:	n/a	n/a
15	JUND	chr14:66477498-66477700	HepG2	liver:	n/a	n/a
16	JUND	chr14:66475922-66476187	H1-hESC	embryonic stem cell:	n/a	chr14:66476017-66476025 chr14:66476015-66476027
17	KAP1	chr14:66475871-66476174	U2OS	brain:	n/a	n/a
18	MAFK	chr14:66477497-66477780	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr14:66475887-66476116	H1-hESC	embryonic stem cell:	n/a	chr14:66476018-66476027
20	MAFK	chr14:66477516-66477700	HepG2	liver:	n/a	n/a
21	MYC	chr14:66475926-66476169	MCF10A-Er-Src	breast:	n/a	chr14:66476016-66476025
22	MYC	chr14:66475883-66476192	MCF10A-Er-Src	breast:	n/a	chr14:66476016-66476025
23	PAX5	chr14:66479967-66480173	GM12878	blood:	n/a	n/a
24	PAX5	chr14:66479977-66480274	GM12878	blood:	n/a	n/a
25	PAX5	chr14:66479872-66480266	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:66476088-66476252	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:66480010-66480114	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:66479515-66480007	GM12891	blood:	n/a	n/a
29	POLR2A	chr14:66479836-66479991	K562	blood:	n/a	n/a
30	POLR2A	chr14:66477293-66477391	MCF-7	breast:	n/a	n/a
31	POLR2A	chr14:66479545-66480229	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:66475729-66475958	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr14:66479676-66480755	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:66479879-66480179	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:66479675-66480171	GM12892	blood:	n/a	n/a
36	POLR2A	chr14:66479846-66480032	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:66475735-66476238	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr14:66477314-66477420	A549	lung:	n/a	n/a
39	POLR2A	chr14:66480221-66480666	K562	blood:	n/a	n/a
40	POLR2A	chr14:66479569-66480084	GM12892	blood:	n/a	n/a
41	POLR2A	chr14:66479489-66480209	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:66479532-66479595	MCF-7	breast:	n/a	n/a
43	STAT3	chr14:66475897-66476206	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr14:66475870-66476139	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr14:66475889-66476159	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr14:66475851-66476192	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF12	chr14:66479908-66480117	GM12878	blood:	n/a	n/a
48	ZBTB33	chr14:66479354-66480700	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66471411..66473485-chr14:66474292..66477179,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258847	TF binding region
ENSG00000238876	TF binding region

Extended variants
information (count: 206 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546970895	chr14:66475815-66475816	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570345526	chr14:66475830-66475831	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142726273	chr14:66475856-66475857	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535709352	chr14:66475871-66475872	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs58920381	chr14:66475885-66475886	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs55832188	chr14:66475887-66475888	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185557997	chr14:66475990-66475991	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs55943698	chr14:66475999-66476000	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188722144	chr14:66476082-66476083	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577277202	chr14:66476094-66476095	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs539942339	chr14:66476141-66476142	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533306664	chr14:66476152-66476153	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192282369	chr14:66476157-66476158	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367731270	chr14:66476172-66476173	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553323549	chr14:66476189-66476190	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371114705	chr14:66476241-66476242	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs894921	chr14:66476252-66476253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542639942	chr14:66476254-66476255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555735626	chr14:66476265-66476266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557208898	chr14:66476300-66476301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184534082	chr14:66476302-66476303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs894920	chr14:66476304-66476305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113029361	chr14:66476337-66476338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188702788	chr14:66476393-66476394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368620293	chr14:66476403-66476404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1273785	chr14:66476404-66476405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4454897	chr14:66476445-66476446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373661474	chr14:66476447-66476448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568243575	chr14:66476448-66476449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529250859	chr14:66476482-66476483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117872106	chr14:66476496-66476497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1273784	chr14:66476505-66476506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181079029	chr14:66476511-66476512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28568546	chr14:66476537-66476538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571128950	chr14:66476538-66476539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533608555	chr14:66476561-66476562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150917722	chr14:66476570-66476571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573706592	chr14:66476571-66476572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535864354	chr14:66476599-66476600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139406058	chr14:66476601-66476602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34805810	chr14:66476617-66476618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1763765	chr14:66476619-66476620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs36066484	chr14:66476621-66476622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs5809299	chr14:66476635-66476636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144413117	chr14:66476672-66476673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146108442	chr14:66476689-66476690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1899814	chr14:66476716-66476717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35600123	chr14:66476744-66476745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115137959	chr14:66476748-66476749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180801993	chr14:66476758-66476759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66470600-66478400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:66471200-66477000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:66474600-66476000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:66474800-66476200	Enhancers	HSMMtube	muscle
5	chr14:66474800-66476600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:66475000-66476200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:66475000-66476200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:66475200-66476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:66475200-66476600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:66475400-66476200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:66475400-66476200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:66475400-66476200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:66475400-66476200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:66475400-66476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:66475400-66479000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:66475600-66476000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:66475600-66476400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:66475600-66477200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:66475600-66477400	Weak transcription	Right Atrium	heart
20	chr14:66475800-66476000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr14:66475800-66476200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:66475800-66476200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:66475800-66476400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:66475800-66476400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:66475800-66476400	Enhancers	NHDF-Ad	bronchial
26	chr14:66476000-66476200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:66476000-66476200	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:66476000-66476200	Enhancers	Fetal Stomach	stomach
29	chr14:66476200-66477200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:66476200-66477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:66476200-66477200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:66476200-66477200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:66476200-66477400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:66476200-66478000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:66476200-66482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:66476400-66476800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:66476400-66477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:66476400-66477800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:66476800-66477600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:66477000-66478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:66477200-66477400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:66477200-66477400	Enhancers	Fetal Stomach	stomach
43	chr14:66477200-66477400	Bivalent Enhancer	HepG2	liver
44	chr14:66477200-66477600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:66477200-66477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:66477200-66477800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:66477200-66478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:66477400-66477600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr14:66477400-66478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:66477400-66478000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links