Variant report

Variant	esv3378942
Chromosome Location	chr14:55412251-55440744
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	BRCA1	chr14:55412686-55412827	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:55438049-55438205	HepG2	liver:	n/a	chr14:55438176-55438187
3	CEBPB	chr14:55433276-55433345	A549	lung:	n/a	n/a
4	CEBPB	chr14:55438114-55438246	A549	lung:	n/a	chr14:55438176-55438187
5	CEBPB	chr14:55438147-55438231	IMR90	lung:	n/a	chr14:55438176-55438187
6	CEBPB	chr14:55412995-55413040	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:55438147-55438230	K562	blood:	n/a	chr14:55438176-55438187
8	CEBPB	chr14:55438102-55438384	MCF-7	breast:	n/a	chr14:55438176-55438187
9	CTCF	chr14:55432429-55432474	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr14:55429580-55429730	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr14:55412840-55412990	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:55426384-55426448	GM19239	blood:	n/a	n/a
13	CTCF	chr14:55421514-55421560	LNCaP	prostate:	n/a	n/a
14	CTCF	chr14:55429480-55429630	GM12868	blood:	n/a	n/a
15	FAM48A	chr14:55422151-55422272	GM12878	blood:	n/a	n/a
16	FOS	chr14:55412973-55413046	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:55412970-55413009	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:55412924-55413132	MCF10A-Er-Src	breast:	n/a	n/a
19	MAFF	chr14:55440485-55440685	HepG2	liver:	n/a	chr14:55440525-55440543
20	MAFF	chr14:55439225-55439344	K562	blood:	n/a	n/a
21	MAFF	chr14:55440484-55440486	K562	blood:	n/a	n/a
22	MAFK	chr14:55440473-55440603	HepG2	liver:	n/a	chr14:55440526-55440541 chr14:55440529-55440543
23	MAFK	chr14:55440410-55440679	HepG2	liver:	n/a	chr14:55440526-55440541 chr14:55440529-55440543
24	MAFK	chr14:55439195-55439356	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr14:55440455-55440632	IMR90	lung:	n/a	chr14:55440526-55440541 chr14:55440529-55440543
26	MYC	chr14:55426427-55426469	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:55425824-55425961	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:55421547-55421570	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:55425807-55425820	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:55438350-55438400	Gliobla	brain:	n/a	n/a
31	POLR2A	chr14:55420726-55420797	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr14:55438568-55438598	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:55424979-55425148	H1-hESC	embryonic stem cell:	n/a	n/a
34	SPI1	chr14:55437511-55437784	GM12891	blood:	n/a	n/a
35	SPI1	chr14:55437546-55437877	GM12891	blood:	n/a	n/a
36	SPI1	chr14:55422224-55422418	GM12891	blood:	n/a	n/a
37	SPI1	chr14:55437554-55437800	GM12878	blood:	n/a	n/a
38	WRNIP1	chr14:55437625-55437629	GM12878	blood:	n/a	n/a
39	ZNF384	chr14:55438398-55438495	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55431797..55433366-chr14:55481534..55483981,2	K562	blood:
2	chr14:55425546..55427837-chr14:55428745..55431370,2	K562	blood:
3	chr14:55420812..55423243-chr14:55429568..55431730,2	MCF-7	breast:
4	chr14:55420812..55423243-chr14:55429568..55431730,2	MCF-7	breast:
5	chr14:55425546..55427837-chr14:55428745..55431370,2	K562	blood:

Variant related genes	Relation type
WDHD1	TF binding region

Extended variants
information (count: 1249 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370889586	chr14:55412255-55412256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570559728	chr14:55412260-55412261	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534690014	chr14:55412265-55412266	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553052355	chr14:55412281-55412282	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575082187	chr14:55412341-55412342	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147208092	chr14:55412363-55412364	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557545016	chr14:55412385-55412386	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112623682	chr14:55412407-55412408	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535803461	chr14:55412408-55412409	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141241177	chr14:55412433-55412434	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532183878	chr14:55412469-55412470	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541029244	chr14:55412504-55412505	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555842090	chr14:55412509-55412510	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530021386	chr14:55412532-55412533	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368213308	chr14:55412583-55412584	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144151656	chr14:55412643-55412644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548174919	chr14:55412657-55412658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575726905	chr14:55412679-55412680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563174388	chr14:55412697-55412698	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs150035695	chr14:55412716-55412717	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371298022	chr14:55412735-55412736	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182359332	chr14:55412736-55412737	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200204902	chr14:55412756-55412757	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150775376	chr14:55412774-55412775	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139758936	chr14:55412792-55412793	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs546995062	chr14:55412809-55412810	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7146285	chr14:55412869-55412870	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs536181328	chr14:55412932-55412933	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74732888	chr14:55413021-55413022	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557348300	chr14:55413029-55413030	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575955307	chr14:55413062-55413063	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs143728227	chr14:55413090-55413091	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558341420	chr14:55413095-55413096	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs186981342	chr14:55413108-55413109	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190422790	chr14:55413116-55413117	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570145831	chr14:55413173-55413174	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146301318	chr14:55413182-55413183	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114011474	chr14:55413203-55413204	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542156032	chr14:55413224-55413225	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563235181	chr14:55413242-55413243	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530678314	chr14:55413243-55413244	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551957541	chr14:55413264-55413265	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558346575	chr14:55413334-55413335	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528601859	chr14:55413364-55413365	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546763161	chr14:55413381-55413382	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568469911	chr14:55413388-55413389	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112491513	chr14:55413481-55413482	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112477354	chr14:55413482-55413483	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535477356	chr14:55413509-55413510	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117546374	chr14:55413541-55413542	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Breast cancer	21364760	CNVD

Chromatin state (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55395200-55414800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
7	chr14:55402400-55414200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:55402600-55414800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55402800-55414800	Weak transcription	Hela-S3	cervix
10	chr14:55402800-55416000	Strong transcription	Dnd41	blood
11	chr14:55403000-55413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:55403000-55414800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:55403000-55449000	Weak transcription	Gastric	stomach
15	chr14:55403200-55414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:55403200-55442600	Weak transcription	NHEK	skin
18	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
19	chr14:55403400-55413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:55403400-55421800	Weak transcription	HMEC	breast
21	chr14:55403600-55423800	Weak transcription	K562	blood
22	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
23	chr14:55403800-55413400	Weak transcription	Thymus	Thymus
24	chr14:55404200-55413200	Weak transcription	Fetal Intestine Small	intestine
25	chr14:55404400-55413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
27	chr14:55404800-55414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:55404800-55415200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:55405200-55412400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:55405600-55413400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:55405800-55413400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:55405800-55414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:55405800-55414800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:55407600-55414800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:55407800-55414800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:55407800-55415000	Weak transcription	Fetal Thymus	thymus
40	chr14:55408000-55421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:55408400-55415000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:55408400-55423600	Weak transcription	GM12878-XiMat	blood
44	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
45	chr14:55409800-55423200	Weak transcription	Primary B cells from cord blood	blood
46	chr14:55410000-55414600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:55410400-55414000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:55410400-55415000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:55410600-55415000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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