Variant report

Variant	nsv901650
Chromosome Location	chr14:38289942-38331900
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	ARID3A	chr14:38318201-38318889	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38303625-38303740	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:38318261-38318533	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:38324828-38325176	IMR90	lung:	n/a	chr14:38324999-38325012 chr14:38325000-38325011 chr14:38324999-38325010 chr14:38324999-38325012 chr14:38324999-38325012
5	CEBPB	chr14:38320301-38320598	HepG2	liver:	n/a	chr14:38320452-38320463 chr14:38320451-38320462
6	CEBPB	chr14:38313521-38313730	HepG2	liver:	n/a	chr14:38313601-38313612
7	CEBPB	chr14:38313413-38313788	K562	blood:	n/a	chr14:38313601-38313612
8	CEBPB	chr14:38324838-38325183	HepG2	liver:	n/a	chr14:38324999-38325012 chr14:38325000-38325011 chr14:38324999-38325010 chr14:38324999-38325012 chr14:38324999-38325012
9	CEBPB	chr14:38327984-38328292	HepG2	liver:	n/a	chr14:38327987-38328000
10	CEBPB	chr14:38313447-38313772	Hela-S3	cervix:	n/a	chr14:38313601-38313612
11	CEBPB	chr14:38313415-38313793	HepG2	liver:	n/a	chr14:38313601-38313612
12	CEBPB	chr14:38313457-38313687	ECC-1	luminal epithelium:	n/a	chr14:38313601-38313612
13	CEBPB	chr14:38324916-38325097	A549	lung:	n/a	chr14:38324999-38325012 chr14:38325000-38325011 chr14:38324999-38325010 chr14:38324999-38325012 chr14:38324999-38325012
14	CEBPB	chr14:38313423-38313757	IMR90	lung:	n/a	chr14:38313601-38313612
15	CEBPB	chr14:38313446-38313776	A549	lung:	n/a	chr14:38313601-38313612
16	CEBPB	chr14:38289638-38289968	HepG2	liver:	n/a	chr14:38289796-38289807 chr14:38289795-38289808
17	CEBPB	chr14:38324864-38325132	K562	blood:	n/a	chr14:38324999-38325012 chr14:38325000-38325011 chr14:38324999-38325010 chr14:38324999-38325012 chr14:38324999-38325012
18	CEBPB	chr14:38313496-38313703	H1-hESC	embryonic stem cell:	n/a	chr14:38313601-38313612
19	CEBPB	chr14:38313369-38313818	MCF-7	breast:	n/a	chr14:38313601-38313612
20	CEBPB	chr14:38290660-38290925	HepG2	liver:	n/a	chr14:38290789-38290800
21	CEBPB	chr14:38313389-38313845	A549	lung:	n/a	chr14:38313601-38313612
22	CEBPB	chr14:38313359-38313792	HepG2	liver:	n/a	chr14:38313601-38313612
23	CEBPD	chr14:38313484-38313708	HepG2	liver:	n/a	n/a
24	CTCF	chr14:38290318-38290354	GM10248	blood:	n/a	n/a
25	CTCF	chr14:38294680-38294830	GM06990	blood:	n/a	n/a
26	CTCF	chr14:38320552-38320585	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr14:38292112-38292162	Lung_OC	lung:	n/a	n/a
28	EP300	chr14:38318324-38318899	HepG2	liver:	n/a	n/a
29	FOXA1	chr14:38314792-38315077	T-47D	breast:	n/a	chr14:38314989-38315001
30	FOXA1	chr14:38318289-38318985	HepG2	liver:	n/a	n/a
31	FOXA1	chr14:38314737-38315176	HepG2	liver:	n/a	chr14:38314989-38315001
32	FOXA1	chr14:38318381-38318859	HepG2	liver:	n/a	n/a
33	FOXA1	chr14:38296015-38296457	T-47D	breast:	n/a	chr14:38296183-38296195
34	FOXA1	chr14:38318242-38318975	HepG2	liver:	n/a	n/a
35	FOXA1	chr14:38314759-38315059	T-47D	breast:	n/a	chr14:38314989-38315001
36	FOXA2	chr14:38296119-38296508	A549	lung:	n/a	chr14:38296183-38296195
37	FOXA2	chr14:38318378-38318781	HepG2	liver:	n/a	n/a
38	GATA3	chr14:38314573-38315151	MCF-7	breast:	n/a	chr14:38314742-38314754 chr14:38314745-38314756
39	GATA3	chr14:38314591-38315128	T-47D	breast:	n/a	chr14:38314742-38314754 chr14:38314745-38314756
40	GATA3	chr14:38314671-38315032	MCF-7	breast:	n/a	chr14:38314742-38314754 chr14:38314745-38314756
41	GATA3	chr14:38314582-38315072	T-47D	breast:	n/a	chr14:38314742-38314754 chr14:38314745-38314756
42	GATA3	chr14:38331255-38331896	MCF-7	breast:	n/a	chr14:38331783-38331804 chr14:38331785-38331801
43	HNF4A	chr14:38327953-38328258	HepG2	liver:	n/a	chr14:38328138-38328153 chr14:38328137-38328155 chr14:38328140-38328153 chr14:38328139-38328153 chr14:38328139-38328153
44	HNF4G	chr14:38327873-38328241	HepG2	liver:	n/a	chr14:38327925-38327933 chr14:38328137-38328155 chr14:38327924-38327932 chr14:38328140-38328153 chr14:38328139-38328153 chr14:38328139-38328153
45	HNF4G	chr14:38327793-38328627	HepG2	liver:	n/a	chr14:38327925-38327933 chr14:38328137-38328155 chr14:38327924-38327932 chr14:38328140-38328153 chr14:38328139-38328153 chr14:38328139-38328153
46	JUN	chr14:38318224-38318549	HepG2	liver:	n/a	chr14:38318386-38318399
47	JUND	chr14:38318208-38318590	HepG2	liver:	n/a	n/a
48	JUND	chr14:38313534-38313624	HepG2	liver:	n/a	n/a
49	KAP1	chr14:38303496-38303970	K562	blood:	n/a	n/a
50	MAFF	chr14:38310306-38310583	K562	blood:	n/a	chr14:38310425-38310443

No.	Distal block	Cell Line	Cell type
1	chr14:38063353..38065330-chr14:38297774..38300460,2	MCF-7	breast:
2	chr14:38288642..38290464-chr14:38293057..38295277,2	MCF-7	breast:
3	chr14:38063198..38065699-chr14:38312720..38314688,2	MCF-7	breast:
4	chr14:38317873..38320611-chr14:38331977..38333787,2	MCF-7	breast:
5	chr14:38288642..38290464-chr14:38293057..38295277,2	MCF-7	breast:
6	chr14:38179396..38181240-chr14:38325278..38326866,2	MCF-7	breast:
7	chr14:37724664..37726988-chr14:38331777..38333562,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIPOL1-6	chr14:38320042-38321184	NONHSAT036473

Variant related genes	Relation type
RNU6-1277P	TF binding region
TTC6	TF binding region
ENSG00000139865	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 1048 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8013296	chr14:38289942-38289943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544329086	chr14:38289978-38289979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545855524	chr14:38289988-38289989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8007708	chr14:38290000-38290001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564185277	chr14:38290007-38290008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111883258	chr14:38290052-38290053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139682007	chr14:38290060-38290061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373626531	chr14:38290089-38290090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560342616	chr14:38290102-38290103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529069357	chr14:38290110-38290111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548903403	chr14:38290113-38290114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150539229	chr14:38290131-38290132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8008848	chr14:38290134-38290135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199739376	chr14:38290149-38290150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112986698	chr14:38290158-38290159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147457513	chr14:38290161-38290162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28742171	chr14:38290167-38290168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117488817	chr14:38290174-38290175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530837116	chr14:38290194-38290195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550528456	chr14:38290212-38290213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570857965	chr14:38290215-38290216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28516450	chr14:38290219-38290220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149619566	chr14:38290228-38290229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10599374	chr14:38290229-38290230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398118074	chr14:38290234-38290235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553179065	chr14:38290239-38290240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146910858	chr14:38290250-38290251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200082154	chr14:38290252-38290253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190036388	chr14:38290257-38290258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145547976	chr14:38290258-38290259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12882772	chr14:38290280-38290281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536035364	chr14:38290296-38290297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538541697	chr14:38290331-38290332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139765514	chr14:38290423-38290424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544236580	chr14:38290481-38290482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557690805	chr14:38290514-38290515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182261124	chr14:38290543-38290544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551538054	chr14:38290552-38290553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540363255	chr14:38290597-38290598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79028685	chr14:38290608-38290609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149784309	chr14:38290616-38290617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185649304	chr14:38290687-38290688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190755281	chr14:38290692-38290693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562460158	chr14:38290698-38290699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180786014	chr14:38290750-38290751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185234317	chr14:38290789-38290790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146780559	chr14:38290814-38290815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570862645	chr14:38290826-38290827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140734556	chr14:38290834-38290835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4611368	chr14:38290875-38290876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38280400-38295600	Weak transcription	Liver	Liver
2	chr14:38288400-38294200	Weak transcription	NH-A	brain
3	chr14:38289000-38294200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:38289200-38293800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:38289400-38294000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:38289800-38294000	Weak transcription	HepG2	liver
7	chr14:38293400-38294800	Enhancers	Fetal Stomach	stomach
8	chr14:38293800-38295200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:38294000-38294400	Enhancers	Stomach Smooth Muscle	stomach
10	chr14:38294000-38294400	Enhancers	HSMMtube	muscle
11	chr14:38294000-38294600	Enhancers	Fetal Lung	lung
12	chr14:38294000-38294600	Enhancers	Rectal Smooth Muscle	rectum
13	chr14:38294000-38294800	Enhancers	HepG2	liver
14	chr14:38294000-38297000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:38294200-38294600	Enhancers	Colon Smooth Muscle	Colon
16	chr14:38294200-38294600	Enhancers	Fetal Brain Male	brain
17	chr14:38294200-38294600	Enhancers	NH-A	brain
18	chr14:38294400-38295000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:38294600-38300400	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:38295600-38296000	Enhancers	Liver	Liver
21	chr14:38304200-38304400	Enhancers	Pancreas	Pancrea
22	chr14:38304600-38308000	Weak transcription	Liver	Liver
23	chr14:38313200-38313800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:38313400-38315000	Enhancers	HepG2	liver
25	chr14:38315000-38317400	Weak transcription	HepG2	liver
26	chr14:38317400-38319600	Enhancers	HepG2	liver
27	chr14:38324600-38326600	Enhancers	Fetal Lung	lung
28	chr14:38324800-38325400	Enhancers	Liver	Liver
29	chr14:38325400-38333200	Weak transcription	Liver	Liver
30	chr14:38327000-38329200	Enhancers	HepG2	liver
31	chr14:38329200-38331400	Weak transcription	HepG2	liver
32	chr14:38331400-38331600	Enhancers	Esophagus	oesophagus
33	chr14:38331400-38332000	Enhancers	HepG2	liver
34	chr14:38331600-38333400	Weak transcription	Esophagus	oesophagus
35	chr14:38331800-38332000	Enhancers	Duodenum Smooth Muscle	Duodenum

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