Variant report

Variant	esv3396352
Chromosome Location	chr14:55731649-55734247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:55732056-55732199	K562	blood:	n/a	n/a
2	CBX3	chr14:55731921-55732278	K562	blood:	n/a	n/a
3	CHD2	chr14:55732039-55732149	GM12878	blood:	n/a	n/a
4	CREB1	chr14:55731948-55732308	GM12878	blood:	n/a	n/a
5	CREB1	chr14:55731899-55732363	HepG2	liver:	n/a	n/a
6	CREB1	chr14:55731956-55732302	HepG2	liver:	n/a	n/a
7	CTCF	chr14:55731940-55732090	GM12875	blood:	n/a	n/a
8	CTCF	chr14:55731960-55732110	GM12874	blood:	n/a	n/a
9	CTCF	chr14:55731940-55732090	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:55731960-55732110	Caco-2	colon:	n/a	n/a
11	CTCF	chr14:55731940-55732090	GM12869	blood:	n/a	n/a
12	CTCF	chr14:55732000-55732150	GM12864	blood:	n/a	n/a
13	CTCF	chr14:55731960-55732110	GM12866	blood:	n/a	n/a
14	CTCF	chr14:55732000-55732150	GM12878	blood:	n/a	n/a
15	CTCF	chr14:55731900-55732050	GM12864	blood:	n/a	n/a
16	CTCF	chr14:55731920-55732070	GM12875	blood:	n/a	n/a
17	CTCF	chr14:55731940-55732090	GM12867	blood:	n/a	n/a
18	CTCF	chr14:55732080-55732230	GM12873	blood:	n/a	n/a
19	CTCF	chr14:55732000-55732150	A549	lung:	n/a	n/a
20	CTCF	chr14:55731940-55732230	GM12864	blood:	n/a	n/a
21	CTCF	chr14:55732016-55732040	GM12878	blood:	n/a	n/a
22	CTCF	chr14:55731900-55732050	GM12873	blood:	n/a	n/a
23	CTCF	chr14:55731940-55732090	GM12871	blood:	n/a	n/a
24	CTCF	chr14:55731980-55732130	BE2_C	brain:	n/a	n/a
25	CTCF	chr14:55731960-55732110	BE2_C	brain:	n/a	n/a
26	CTCF	chr14:55732020-55732170	GM12872	blood:	n/a	n/a
27	CTCF	chr14:55731980-55732130	HPF	lung:	n/a	n/a
28	CTCF	chr14:55732042-55732109	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr14:55731900-55732050	HMF	breast:	n/a	n/a
30	CTCF	chr14:55731960-55732110	GM12865	blood:	n/a	n/a
31	CTCF	chr14:55731980-55732130	HEK293	kidney:	n/a	n/a
32	ELF1	chr14:55731933-55732227	K562	blood:	n/a	n/a
33	GABPA	chr14:55731806-55732389	HL-60	blood:	n/a	n/a
34	GABPA	chr14:55731747-55732461	HL-60	blood:	n/a	n/a
35	GABPA	chr14:55731932-55732284	K562	blood:	n/a	n/a
36	GABPA	chr14:55731979-55732221	GM12878	blood:	n/a	n/a
37	GABPA	chr14:55731935-55732204	A549	lung:	n/a	n/a
38	MAX	chr14:55732103-55732238	K562	blood:	n/a	n/a
39	MAX	chr14:55732170-55732193	GM12878	blood:	n/a	n/a
40	MAX	chr14:55731992-55732348	NB4	blood:	n/a	n/a
41	MAX	chr14:55732148-55732262	K562	blood:	n/a	n/a
42	MAX	chr14:55732010-55732310	K562	blood:	n/a	n/a
43	MAX	chr14:55731947-55732321	HepG2	liver:	n/a	n/a
44	MYC	chr14:55731985-55732276	NB4	blood:	n/a	n/a
45	NFYB	chr14:55731977-55732254	GM12878	blood:	n/a	n/a
46	PBX3	chr14:55732067-55732228	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:55731917-55732299	HL-60	blood:	n/a	n/a
48	SPI1	chr14:55731914-55732383	HL-60	blood:	n/a	n/a
49	SPI1	chr14:55731983-55732245	GM12878	blood:	n/a	n/a
50	SPI1	chr14:55731975-55732309	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55727113..55735518-chr14:55736186..55741884,14	K562	blood:
2	chr14:55732836..55734810-chr14:55736254..55738759,2	MCF-7	breast:
3	chr14:55728321..55735089-chr14:55735819..55739586,10	K562	blood:
4	chr14:55732991..55735732-chr14:55744653..55746589,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO34	TF binding region
ENSG00000178974	chromatin interactions
ENSG00000258413	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574645730	chr14:55731664-55731665	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs78927721	chr14:55731704-55731705	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563175895	chr14:55731762-55731763	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114438971	chr14:55731795-55731796	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545519002	chr14:55731803-55731804	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141619329	chr14:55731817-55731818	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs147068795	chr14:55731842-55731843	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546794727	chr14:55731871-55731872	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563584255	chr14:55731881-55731882	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs36048896	chr14:55731921-55731922	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568735034	chr14:55731969-55731970	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529600588	chr14:55732007-55732008	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375722071	chr14:55732111-55732112	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76006713	chr14:55732158-55732159	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569186774	chr14:55732181-55732182	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539843457	chr14:55732194-55732195	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77634916	chr14:55732213-55732214	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75011780	chr14:55732263-55732264	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185115560	chr14:55732284-55732285	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534761586	chr14:55732285-55732286	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553250805	chr14:55732295-55732296	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545010887	chr14:55732337-55732338	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559668501	chr14:55732359-55732360	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528741669	chr14:55732360-55732361	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541791278	chr14:55732394-55732395	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201517167	chr14:55732404-55732405	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556891457	chr14:55732406-55732407	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139731563	chr14:55732408-55732409	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs66581216	chr14:55732409-55732410	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201605240	chr14:55732412-55732413	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs67245332	chr14:55732413-55732414	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372367278	chr14:55732414-55732415	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552348775	chr14:55732429-55732430	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs386777714	chr14:55732450-55732451	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140452794	chr14:55732452-55732453	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563794946	chr14:55732461-55732462	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143629114	chr14:55732462-55732463	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540419415	chr14:55732473-55732474	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562179703	chr14:55732550-55732551	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529569833	chr14:55732558-55732559	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138134843	chr14:55732598-55732599	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374058082	chr14:55732620-55732621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56259724	chr14:55732655-55732656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10136794	chr14:55732663-55732664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78138195	chr14:55732665-55732666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116336195	chr14:55732793-55732794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553691865	chr14:55732814-55732815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189581643	chr14:55732904-55732905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551802280	chr14:55732939-55732940	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566966695	chr14:55732968-55732969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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	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
Medulloblastoma	19270706	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55730200-55733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55730600-55735000	Weak transcription	HSMMtube	muscle
3	chr14:55730600-55737400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:55730800-55733400	Weak transcription	Fetal Heart	heart
5	chr14:55731600-55732600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr14:55732600-55737400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:55733000-55735400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:55733200-55733400	Enhancers	Fetal Lung	lung
9	chr14:55733400-55734200	Weak transcription	Fetal Lung	lung
10	chr14:55733400-55735200	Enhancers	Fetal Heart	heart
11	chr14:55733800-55734000	Enhancers	Lung	lung
12	chr14:55734000-55734200	Enhancers	K562	blood
13	chr14:55734000-55737600	Weak transcription	Lung	lung
14	chr14:55734200-55734400	Enhancers	Fetal Lung	lung
15	chr14:55734200-55737200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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