Variant report

Variant	nsv1038242
Chromosome Location	chr14:55398559-55444839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:216)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:216 , 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	chr14:55411538-55412153	HepG2	liver:	n/a	n/a
2	BHLHE40	chr14:55411482-55411859	HepG2	liver:	n/a	n/a
3	BHLHE40	chr14:55411454-55412081	HepG2	liver:	n/a	n/a
4	BRCA1	chr14:55412686-55412827	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr14:55443180-55443479	IMR90	lung:	n/a	n/a
6	CEBPB	chr14:55438049-55438205	HepG2	liver:	n/a	chr14:55438176-55438187
7	CEBPB	chr14:55409602-55409790	H1-hESC	embryonic stem cell:	n/a	chr14:55409773-55409785 chr14:55409743-55409756
8	CEBPB	chr14:55438147-55438230	K562	blood:	n/a	chr14:55438176-55438187
9	CEBPB	chr14:55411606-55411825	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:55438102-55438384	MCF-7	breast:	n/a	chr14:55438176-55438187
11	CEBPB	chr14:55438114-55438246	A549	lung:	n/a	chr14:55438176-55438187
12	CEBPB	chr14:55402790-55403126	IMR90	lung:	n/a	chr14:55402962-55402973
13	CEBPB	chr14:55438147-55438231	IMR90	lung:	n/a	chr14:55438176-55438187
14	CEBPB	chr14:55402905-55403008	Hela-S3	cervix:	n/a	chr14:55402962-55402973
15	CEBPB	chr14:55433276-55433345	A549	lung:	n/a	n/a
16	CEBPB	chr14:55402795-55403065	HepG2	liver:	n/a	chr14:55402962-55402973
17	CEBPB	chr14:55412995-55413040	HepG2	liver:	n/a	n/a
18	CHD2	chr14:55411695-55411949	HepG2	liver:	n/a	n/a
19	CTCF	chr14:55402440-55402590	GM12873	blood:	n/a	n/a
20	CTCF	chr14:55402620-55402770	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:55426384-55426448	GM19239	blood:	n/a	n/a
22	CTCF	chr14:55402640-55402790	Caco-2	colon:	n/a	n/a
23	CTCF	chr14:55442208-55442237	Lung_OC	lung:	n/a	n/a
24	CTCF	chr14:55402680-55402830	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr14:55402560-55402710	GM12872	blood:	n/a	n/a
26	CTCF	chr14:55442740-55442890	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr14:55402640-55402790	NHEK	skin:	n/a	n/a
28	CTCF	chr14:55401240-55401390	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr14:55441003-55441110	Fibrobl	skin:	n/a	n/a
30	CTCF	chr14:55412840-55412990	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:55402620-55402770	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr14:55421514-55421560	LNCaP	prostate:	n/a	n/a
33	CTCF	chr14:55402560-55402710	HEK293	kidney:	n/a	n/a
34	CTCF	chr14:55402640-55402790	BE2_C	brain:	n/a	n/a
35	CTCF	chr14:55429480-55429630	GM12868	blood:	n/a	n/a
36	CTCF	chr14:55402620-55402770	HCFaa	heart:	n/a	n/a
37	CTCF	chr14:55432429-55432474	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr14:55402540-55402690	HMF	breast:	n/a	n/a
39	CTCF	chr14:55429580-55429730	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr14:55402560-55402710	HMEC	breast:	n/a	n/a
41	CTCF	chr14:55402560-55402710	BE2_C	brain:	n/a	n/a
42	CTCF	chr14:55402640-55402790	HMF	breast:	n/a	n/a
43	E2F4	chr14:55402790-55403079	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr14:55443163-55443418	MCF10A-Er-Src	breast:	n/a	n/a
45	EP300	chr14:55398306-55399101	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr14:55411525-55412037	HepG2	liver:	n/a	n/a
47	EP300	chr14:55411648-55411960	HepG2	liver:	n/a	n/a
48	EP300	chr14:55396917-55399273	SK-N-SH	brain:	n/a	n/a
49	EP300	chr14:55409783-55409854	GM12878	blood:	n/a	n/a
50	EP300	chr14:55398263-55399156	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55425546..55427837-chr14:55428745..55431370,2	K562	blood:
2	chr14:55398005..55400278-chr14:55404277..55406642,2	K562	blood:
3	chr14:55368213..55370386-chr14:55398172..55400345,2	MCF-7	breast:
4	chr14:55368563..55370483-chr14:55397139..55400016,2	MCF-7	breast:
5	chr14:55425546..55427837-chr14:55428745..55431370,2	K562	blood:
6	chr14:55420812..55423243-chr14:55429568..55431730,2	MCF-7	breast:
7	chr14:55443911..55446292-chr14:55450707..55453316,2	K562	blood:
8	chr14:55398005..55400278-chr14:55404277..55406642,2	K562	blood:
9	chr14:55404869..55406533-chr14:55410519..55413310,2	MCF-7	breast:
10	chr14:55420812..55423243-chr14:55429568..55431730,2	MCF-7	breast:
11	chr14:55368109..55370701-chr14:55406226..55408150,2	MCF-7	breast:
12	chr14:55431797..55433366-chr14:55481534..55483981,2	K562	blood:
13	chr14:55367913..55370093-chr14:55406707..55409456,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDHD1	TF binding region
ENSG00000198554	chromatin interactions
ENSG00000131979	chromatin interactions

Extended variants
information (count: 1972 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1972 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112479632	chr14:55398570-55398571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548388999	chr14:55398633-55398634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34236088	chr14:55398635-55398636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs118105307	chr14:55398674-55398675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558314896	chr14:55398702-55398703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537548486	chr14:55398719-55398720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113782503	chr14:55398775-55398776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577606510	chr14:55398817-55398818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538253859	chr14:55398843-55398844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149710874	chr14:55398921-55398922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572356920	chr14:55398986-55398987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11845908	chr14:55398989-55398990	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574855763	chr14:55399000-55399001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543537655	chr14:55399023-55399024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10134647	chr14:55399066-55399067	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142411252	chr14:55399094-55399095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543908031	chr14:55399102-55399103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11845954	chr14:55399113-55399114	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370968801	chr14:55399122-55399123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532565593	chr14:55399138-55399139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372323245	chr14:55399224-55399225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541048515	chr14:55399242-55399243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193294508	chr14:55399256-55399257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376308761	chr14:55399275-55399276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7150649	chr14:55399303-55399304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150545085	chr14:55399323-55399324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577064347	chr14:55399337-55399338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545984173	chr14:55399344-55399345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530345556	chr14:55399364-55399365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368606648	chr14:55399375-55399376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548427449	chr14:55399383-55399384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183870530	chr14:55399444-55399445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187625277	chr14:55399476-55399477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199549081	chr14:55399481-55399482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113291961	chr14:55399482-55399483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559799804	chr14:55399501-55399502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528744280	chr14:55399510-55399511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77674124	chr14:55399571-55399572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12888841	chr14:55399574-55399575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192014577	chr14:55399577-55399578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565651021	chr14:55399600-55399601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139025394	chr14:55399639-55399640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141504063	chr14:55399656-55399657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374718962	chr14:55399661-55399662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114606969	chr14:55399664-55399665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184255751	chr14:55399793-55399794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577280200	chr14:55399826-55399827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116523635	chr14:55399855-55399856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531813360	chr14:55399906-55399907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76088510	chr14:55399917-55399918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55389600-55406600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:55392800-55402400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
4	chr14:55394400-55409600	Weak transcription	A549	lung
5	chr14:55394400-55428800	Weak transcription	HSMM	muscle
6	chr14:55395200-55414800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:55399200-55402400	Weak transcription	HMEC	breast
10	chr14:55400800-55402600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:55400800-55402800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:55401000-55402600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:55401000-55402600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:55401200-55402800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:55401200-55402800	Weak transcription	Dnd41	blood
16	chr14:55401200-55403000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:55401200-55403200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:55401200-55405800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:55401400-55403200	Enhancers	HepG2	liver
20	chr14:55401600-55403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:55401600-55405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:55402000-55403600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:55402000-55404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
25	chr14:55402200-55405800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:55402400-55403400	Enhancers	HMEC	breast
27	chr14:55402400-55407800	Weak transcription	GM12878-XiMat	blood
28	chr14:55402400-55414200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:55402600-55403000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:55402600-55403200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:55402600-55403200	Enhancers	NHDF-Ad	bronchial
32	chr14:55402600-55403200	Enhancers	NHEK	skin
33	chr14:55402600-55408000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:55402600-55414800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:55402800-55403000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:55402800-55403000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:55402800-55403000	Active TSS	Gastric	stomach
38	chr14:55402800-55403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:55402800-55403200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:55402800-55407000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:55402800-55407200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:55402800-55409400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:55402800-55414800	Weak transcription	Hela-S3	cervix
44	chr14:55402800-55416000	Strong transcription	Dnd41	blood
45	chr14:55403000-55409600	Weak transcription	Primary B cells from cord blood	blood
46	chr14:55403000-55411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:55403000-55412200	Weak transcription	Fetal Stomach	stomach
48	chr14:55403000-55413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:55403000-55414800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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