Variant report

Variant	nsv976358
Chromosome Location	chr14:81287297-81292051
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	CTCF	chr14:81288300-81288450	BJ	skin:	n/a	n/a
2	CTCF	chr14:81290454-81290487	Kidney_OC	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000258452	TF binding region

Extended variants
information (count: 206 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115769186	chr14:81287323-81287324	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577001117	chr14:81287364-81287365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551628516	chr14:81287366-81287367	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192679273	chr14:81287376-81287377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527627315	chr14:81287448-81287449	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549215310	chr14:81287529-81287530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567577961	chr14:81287564-81287565	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371382183	chr14:81287605-81287606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544468678	chr14:81287613-81287614	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538206539	chr14:81287627-81287628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78046153	chr14:81287702-81287703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539180190	chr14:81287707-81287708	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538745668	chr14:81287718-81287719	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574536509	chr14:81287756-81287757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs327453	chr14:81287768-81287769	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560368983	chr14:81287769-81287770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17111124	chr14:81287811-81287812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532554744	chr14:81287880-81287881	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368579175	chr14:81287936-81287937	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368303147	chr14:81287943-81287944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71995799	chr14:81287945-81287946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200398612	chr14:81287946-81287947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2044736	chr14:81287948-81287949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201759153	chr14:81287950-81287951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5029168	chr14:81287952-81287953	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112937912	chr14:81287954-81287955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5029167	chr14:81287960-81287961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5029166	chr14:81287964-81287965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371458111	chr14:81287972-81287973	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376955480	chr14:81287973-81287974	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537797862	chr14:81287987-81287988	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs462506	chr14:81287988-81287989	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61979453	chr14:81288019-81288020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540217060	chr14:81288023-81288024	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375283668	chr14:81288042-81288043	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185067899	chr14:81288047-81288048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555215856	chr14:81288062-81288063	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188980256	chr14:81288079-81288080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181701747	chr14:81288087-81288088	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562443549	chr14:81288093-81288094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2044737	chr14:81288096-81288097	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545112396	chr14:81288117-81288118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2044738	chr14:81288131-81288132	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527456025	chr14:81288180-81288181	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34232168	chr14:81288191-81288192	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562954580	chr14:81288192-81288193	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567588900	chr14:81288217-81288218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531487064	chr14:81288262-81288263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184585087	chr14:81288263-81288264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117315090	chr14:81288276-81288277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81281600-81304200	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81282800-81290000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81283000-81288800	Weak transcription	Aorta	Aorta
5	chr14:81284400-81291800	Strong transcription	Fetal Thymus	thymus
6	chr14:81284600-81291200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:81284800-81288200	Weak transcription	Pancreas	Pancrea
8	chr14:81284800-81290000	Weak transcription	Fetal Stomach	stomach
9	chr14:81284800-81290200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:81285000-81288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:81285000-81288000	Weak transcription	Thymus	Thymus
12	chr14:81285000-81290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:81285000-81290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:81285000-81291200	Weak transcription	Fetal Brain Female	brain
15	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:81285000-81310200	Weak transcription	A549	lung
17	chr14:81285000-81311200	Weak transcription	Ovary	ovary
18	chr14:81285200-81290000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:81285200-81315600	Weak transcription	HSMM	muscle
20	chr14:81285400-81290200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:81286200-81290000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:81286200-81290400	Weak transcription	Left Ventricle	heart
25	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:81286400-81289000	Weak transcription	Fetal Intestine Small	intestine
27	chr14:81286400-81292200	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:81286600-81288200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:81286600-81290000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:81286800-81287400	Enhancers	NHLF	lung
31	chr14:81287000-81287800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:81287000-81288200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:81287000-81290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:81287000-81291400	Strong transcription	Dnd41	blood
35	chr14:81287200-81290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:81287400-81290400	Weak transcription	Right Ventricle	heart
37	chr14:81288000-81290000	Strong transcription	Thymus	Thymus
38	chr14:81288000-81291000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:81288000-81291800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:81288000-81307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:81288200-81294400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:81288800-81289200	ZNF genes & repeats	Aorta	Aorta
43	chr14:81288800-81305800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:81289000-81290000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:81289600-81292000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:81290000-81290200	ZNF genes & repeats	Aorta	Aorta
47	chr14:81290000-81290400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:81290000-81290400	ZNF genes & repeats	Gastric	stomach
49	chr14:81290000-81290600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:81290000-81290600	ZNF genes & repeats	Fetal Stomach	stomach

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