Variant report

Variant	nsv1050032
Chromosome Location	chr14:43428721-43466768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:43433139-43433257	HepG2	liver:	n/a	chr14:43433181-43433192
2	CEBPB	chr14:43460390-43460680	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:43460396-43460596	A549	lung:	n/a	n/a
4	CEBPB	chr14:43453208-43453525	HepG2	liver:	n/a	chr14:43453354-43453365 chr14:43453356-43453367
5	CEBPB	chr14:43463213-43463552	IMR90	lung:	n/a	n/a
6	CEBPB	chr14:43434437-43434664	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:43450264-43450500	HepG2	liver:	n/a	chr14:43450398-43450407 chr14:43450397-43450408
8	CEBPB	chr14:43463151-43463644	MCF-7	breast:	n/a	n/a
9	CEBPB	chr14:43453278-43453537	IMR90	lung:	n/a	chr14:43453354-43453365 chr14:43453356-43453367
10	CTCF	chr14:43461297-43461414	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:43461240-43461390	RPTEC	kidney:	n/a	n/a
12	CTCF	chr14:43461280-43461430	RPTEC	kidney:	n/a	n/a
13	CTCF	chr14:43463700-43463850	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr14:43463600-43463750	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr14:43461280-43461430	HepG2	liver:	n/a	n/a
16	CTCF	chr14:43463720-43463870	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr14:43461303-43461417	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:43461220-43461370	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:43463680-43463830	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:43463600-43463750	HAc	cerebellar:	n/a	n/a
21	CTCF	chr14:43463700-43463850	AG04449	skin:	n/a	n/a
22	CTCF	chr14:43463720-43463870	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr14:43462860-43463010	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:43459043-43459082	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:43463700-43463850	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr14:43463680-43463830	AG04449	skin:	n/a	n/a
27	CTCF	chr14:43461293-43461422	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:43461240-43461390	A549	lung:	n/a	n/a
29	CTCF	chr14:43463700-43463850	HMF	breast:	n/a	n/a
30	CTCF	chr14:43463680-43463830	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr14:43463768-43463833	Gliobla	brain:	n/a	n/a
32	CTCF	chr14:43463700-43463850	HPF	lung:	n/a	n/a
33	CTCF	chr14:43463700-43463850	AG04450	lung:	n/a	n/a
34	CTCF	chr14:43463660-43463810	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr14:43455688-43455717	GM20000	blood:	n/a	n/a
36	CTCF	chr14:43461283-43461446	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:43461340-43461490	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr14:43461280-43461430	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:43460665-43460708	GM10248	blood:	n/a	n/a
40	CTCF	chr14:43463680-43463830	AG04450	lung:	n/a	n/a
41	CTCF	chr14:43461291-43461440	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:43463700-43463850	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr14:43462740-43462890	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:43461311-43461406	LNCaP	prostate:	n/a	n/a
45	CTCF	chr14:43463720-43463870	HPF	lung:	n/a	n/a
46	CTCF	chr14:43461260-43461410	HEK293	kidney:	n/a	n/a
47	CTCF	chr14:43461286-43461432	MCF-7	breast:	n/a	n/a
48	E2F4	chr14:43432978-43433178	MCF10A-Er-Src	breast:	n/a	n/a
49	EGR1	chr14:43463297-43463701	MCF-7	breast:	n/a	n/a
50	FOS	chr14:43430794-43431006	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43429057..43431016-chr14:43435406..43438063,2	MCF-7	breast:
2	chr14:43461882..43464212-chr3:67277792..67280418,2	MCF-7	breast:
3	chr14:43429057..43431016-chr14:43435406..43438063,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259047	TF binding region

Extended variants
information (count: 481 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557729577	chr14:43428730-43428731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576099623	chr14:43428744-43428745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35397057	chr14:43428753-43428754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114745066	chr14:43428771-43428772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369439312	chr14:43428779-43428780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78797547	chr14:43428789-43428790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548932028	chr14:43428794-43428795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541193309	chr14:43428852-43428853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188791840	chr14:43428857-43428858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578181375	chr14:43428869-43428870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180851495	chr14:43428878-43428879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569357060	chr14:43428900-43428901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150647663	chr14:43428904-43428905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530764125	chr14:43428905-43428906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140074479	chr14:43428909-43428910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186137827	chr14:43428930-43428931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558342134	chr14:43428951-43428952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576655270	chr14:43428961-43428962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144118414	chr14:43428962-43428963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529134103	chr14:43428987-43428988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547591436	chr14:43428989-43428990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192097412	chr14:43429068-43429069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146488774	chr14:43429069-43429070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183910254	chr14:43429121-43429122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534548221	chr14:43429123-43429124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115631074	chr14:43429152-43429153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554481472	chr14:43429184-43429185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536614943	chr14:43429193-43429194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555061533	chr14:43429225-43429226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199915339	chr14:43429226-43429227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534918263	chr14:43429265-43429266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59847050	chr14:43429285-43429286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578079220	chr14:43429311-43429312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140957573	chr14:43429316-43429317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545685396	chr14:43429345-43429346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190576695	chr14:43429361-43429362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372796354	chr14:43429372-43429373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541860253	chr14:43429377-43429378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182974929	chr14:43429398-43429399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543027423	chr14:43429400-43429401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375752333	chr14:43429480-43429481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370051137	chr14:43429482-43429483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561395331	chr14:43429503-43429504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565341405	chr14:43429512-43429513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143505412	chr14:43429530-43429531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114210868	chr14:43429531-43429532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540881134	chr14:43429564-43429565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547932024	chr14:43429592-43429593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186956249	chr14:43429610-43429611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145610483	chr14:43429615-43429616	Weak transcription	n/a	n/a	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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43428200-43434600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:43434200-43434800	Enhancers	Brain Angular Gyrus	brain
3	chr14:43434400-43434800	Enhancers	Brain Substantia Nigra	brain
4	chr14:43434400-43435000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:43434600-43434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:43434600-43435000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:43434600-43435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:43434600-43436400	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:43434800-43435200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:43435000-43435400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:43435200-43435600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:43435400-43435800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:43435600-43436400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:43462200-43463600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:43462400-43463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:43462800-43464200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:43463600-43464000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:43464000-43464200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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