Variant report

Variant	nsv832813
Chromosome Location	chr14:62757220-62970305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:62943531..62945399-chr14:62946966..62948900,2	K562	blood:
2	chr14:62943531..62945399-chr14:62946966..62948900,2	K562	blood:
3	chr14:62869114..62869986-chr14:62881899..62882792,2	MCF-7	breast:
4	chr14:62932820..62934651-chr14:62937131..62939735,2	K562	blood:
5	chr14:62869114..62869986-chr14:62881899..62882792,2	MCF-7	breast:
6	chr14:62932820..62934651-chr14:62937131..62939735,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH5-9	chr14:62908258-62908459	expReg_chr14_3917_-
2	lnc-KCNH5-8	chr14:62909483-62909754	expReg_chr14_3924_-

No data

Extended variants
information (count: 3054 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3054 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534324236	chr14:62757232-62757233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80121481	chr14:62757261-62757262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17099663	chr14:62757274-62757275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181972447	chr14:62757279-62757280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555646350	chr14:62757293-62757294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553931274	chr14:62757307-62757308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185941702	chr14:62757343-62757344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10083366	chr14:62757344-62757345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563771165	chr14:62757350-62757351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577193757	chr14:62757379-62757380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540367293	chr14:62757385-62757386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559982204	chr14:62757409-62757410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529500004	chr14:62757427-62757428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549263422	chr14:62757432-62757433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563218321	chr14:62757458-62757459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370722769	chr14:62757466-62757467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191887371	chr14:62757484-62757485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58321573	chr14:62757513-62757514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183629878	chr14:62757545-62757546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186490908	chr14:62757546-62757547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556385111	chr14:62757575-62757576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148061606	chr14:62757588-62757589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547913121	chr14:62757590-62757591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116178412	chr14:62758207-62758208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74454102	chr14:62758212-62758213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567771167	chr14:62758214-62758215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561028485	chr14:62758268-62758269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550225612	chr14:62758279-62758280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149828011	chr14:62758281-62758282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537637915	chr14:62758282-62758283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557638940	chr14:62758303-62758304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77918472	chr14:62758333-62758334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144760059	chr14:62758335-62758336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7494272	chr14:62758340-62758341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs80217313	chr14:62758437-62758438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74868690	chr14:62758449-62758450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556290076	chr14:62758452-62758453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188177274	chr14:62758455-62758456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78782506	chr14:62758486-62758487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529059709	chr14:62758517-62758518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73270148	chr14:62758524-62758525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193122415	chr14:62758527-62758528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373583082	chr14:62758531-62758532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11847424	chr14:62758548-62758549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561151238	chr14:62758560-62758561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77336649	chr14:62766436-62766437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181499262	chr14:62766472-62766473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574753808	chr14:62766482-62766483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543728376	chr14:62766505-62766506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563339095	chr14:62766548-62766549	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
early-passage human iPS cells	21368824	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62756000-62757400	Enhancers	NH-A	brain
2	chr14:62756000-62757600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:62758200-62758600	Enhancers	Right Atrium	heart
4	chr14:62766400-62767200	Enhancers	Stomach Mucosa	stomach
5	chr14:62766400-62769400	Enhancers	Brain Germinal Matrix	brain
6	chr14:62767200-62768000	Weak transcription	Stomach Mucosa	stomach
7	chr14:62767200-62768800	Enhancers	Hela-S3	cervix
8	chr14:62767200-62769000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:62767400-62767600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:62767400-62768400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:62767600-62771000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:62767800-62768200	Enhancers	Brain Substantia Nigra	brain
13	chr14:62768000-62768400	Enhancers	Fetal Intestine Small	intestine
14	chr14:62768000-62768800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:62768000-62769000	Enhancers	Stomach Mucosa	stomach
16	chr14:62768000-62769400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:62768000-62769400	Enhancers	NH-A	brain
18	chr14:62768200-62768600	Weak transcription	Brain Substantia Nigra	brain
19	chr14:62768400-62768800	Weak transcription	Fetal Intestine Small	intestine
20	chr14:62768400-62769000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:62768400-62769400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:62768600-62768800	Enhancers	Brain Substantia Nigra	brain
23	chr14:62768800-62769200	Enhancers	Fetal Brain Male	brain
24	chr14:62768800-62771000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:62768800-62771000	Weak transcription	Brain Substantia Nigra	brain
26	chr14:62768800-62771800	Enhancers	Fetal Intestine Small	intestine
27	chr14:62769000-62769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:62769000-62769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:62769000-62769400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:62769000-62770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:62769000-62771200	Weak transcription	Stomach Mucosa	stomach
32	chr14:62769200-62769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:62769400-62771000	Weak transcription	Brain Germinal Matrix	brain
34	chr14:62769800-62770000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:62770000-62770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:62770200-62771600	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:62770200-62771600	Enhancers	Fetal Intestine Large	intestine
38	chr14:62770400-62770800	Enhancers	Liver	Liver
39	chr14:62770600-62771800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:62770800-62771400	Flanking Active TSS	Liver	Liver
41	chr14:62770800-62772000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:62771000-62771200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:62771000-62771200	Active TSS	Brain Cingulate Gyrus	brain
44	chr14:62771000-62771400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:62771000-62771400	Enhancers	Brain Angular Gyrus	brain
46	chr14:62771000-62771400	Enhancers	Brain Germinal Matrix	brain
47	chr14:62771000-62771400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:62771000-62771600	Enhancers	Brain Substantia Nigra	brain
49	chr14:62771200-62771400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr14:62771200-62771600	Enhancers	Stomach Mucosa	stomach

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