Variant report

Variant	nsv510640
Chromosome Location	chr14:67070420-67085393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
2	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
3	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
4	chr14:66973300..66976249-chr14:67075152..67078057,2	MCF-7	breast:
5	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 592 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561606440	chr14:67070433-67070434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567871144	chr14:67070455-67070456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180886373	chr14:67070467-67070468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557442348	chr14:67070489-67070490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183763817	chr14:67070498-67070499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529034702	chr14:67070546-67070547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs33933858	chr14:67070560-67070561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577369879	chr14:67070562-67070563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75330588	chr14:67070563-67070564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565854525	chr14:67070621-67070622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546222987	chr14:67070629-67070630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201817087	chr14:67070640-67070641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559780867	chr14:67070661-67070662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146415540	chr14:67070675-67070676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542092729	chr14:67070723-67070724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561762831	chr14:67070726-67070727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530756832	chr14:67070744-67070745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550469774	chr14:67070768-67070769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190807588	chr14:67070818-67070819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533181571	chr14:67070920-67070921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182042018	chr14:67070932-67070933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187098798	chr14:67070941-67070942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569997141	chr14:67070970-67070971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546226883	chr14:67070989-67070990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140769889	chr14:67070990-67070991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566112989	chr14:67071047-67071048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528808796	chr14:67071050-67071051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376851828	chr14:67071132-67071133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537417354	chr14:67071134-67071135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549404997	chr14:67071158-67071159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548883456	chr14:67071199-67071200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567644482	chr14:67071212-67071213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117094597	chr14:67071213-67071214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553193411	chr14:67071260-67071261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144518313	chr14:67071293-67071294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117473027	chr14:67071371-67071372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539931262	chr14:67071455-67071456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553438590	chr14:67071467-67071468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145382468	chr14:67071471-67071472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541831991	chr14:67071527-67071528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117594216	chr14:67071547-67071548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376520606	chr14:67071566-67071567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565241983	chr14:67071573-67071574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77465365	chr14:67071575-67071576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191689451	chr14:67071577-67071578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10144466	chr14:67071594-67071595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs75077884	chr14:67071639-67071640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149204336	chr14:67071650-67071651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181421460	chr14:67071680-67071681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs185512329	chr14:67071703-67071704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67069400-67085000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67069600-67073600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:67071600-67072000	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr14:67072000-67073600	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:67073200-67074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:67073400-67074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:67073600-67074200	Enhancers	Brain Hippocampus Middle	brain
8	chr14:67073600-67074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:67073800-67074400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:67077000-67077200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:67077000-67077200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:67077200-67077400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr14:67078000-67078600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:67079400-67081000	Enhancers	Liver	Liver
15	chr14:67083200-67084200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr14:67083800-67084000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:67083800-67084000	Weak transcription	Gastric	stomach
18	chr14:67084000-67084200	ZNF genes & repeats	Gastric	stomach
19	chr14:67084000-67084400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:67084000-67090600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:67084200-67085000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr14:67084200-67086600	Weak transcription	Gastric	stomach
23	chr14:67084400-67084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:67084400-67093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:67085000-67088400	Weak transcription	Duodenum Mucosa	Duodenum

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