Variant report

Variant	nsv832838
Chromosome Location	chr14:79306627-79445382
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:79400770..79402966-chr14:79404628..79406999,2	K562	blood:
2	chr14:79425453..79426658-chr14:81316149..81316920,3	MCF-7	breast:
3	chr14:79378742..79380336-chr14:79395070..79396642,2	MCF-7	breast:
4	chr14:79431792..79432292-chr2:1115047..1115998,2	MCF-7	breast:
5	chr14:79400140..79400929-chr14:79435226..79435737,2	MCF-7	breast:
6	chr14:79378742..79380336-chr14:79395070..79396642,2	MCF-7	breast:
7	chr14:79400770..79402966-chr14:79404628..79406999,2	K562	blood:
8	chr14:79400140..79400929-chr14:79435226..79435737,2	MCF-7	breast:
9	chr14:79256300..79257015-chr14:79314203..79315303,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNW1-9	chr14:79358582-79359777	NONHSAT038018
2	lnc-SNW1-9	chr14:79360305-79360394	NONHSAT038018

No data

Extended variants
information (count: 3317 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3317 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567453876	chr14:79309612-79309613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530134763	chr14:79309657-79309658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536014978	chr14:79309692-79309693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552720405	chr14:79309699-79309700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572713487	chr14:79309748-79309749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139099609	chr14:79309754-79309755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146314071	chr14:79309800-79309801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558819859	chr14:79309864-79309865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145522145	chr14:79309872-79309873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544237134	chr14:79309873-79309874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59553734	chr14:79309890-79309891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571230196	chr14:79309894-79309895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527844978	chr14:79309897-79309898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529844922	chr14:79309911-79309912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540353210	chr14:79309927-79309928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559952682	chr14:79309928-79309929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147713306	chr14:79309948-79309949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551783487	chr14:79309968-79309969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571947763	chr14:79310028-79310029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189950725	chr14:79310171-79310172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182271265	chr14:79310176-79310177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552767809	chr14:79310254-79310255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571055943	chr14:79310276-79310277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142571245	chr14:79310288-79310289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139497886	chr14:79310310-79310311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536309778	chr14:79310327-79310328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553057702	chr14:79310338-79310339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566286497	chr14:79310344-79310345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538876814	chr14:79310375-79310376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558566732	chr14:79310451-79310452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144918406	chr14:79310468-79310469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543841820	chr14:79310489-79310490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188083060	chr14:79310500-79310501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191058462	chr14:79310561-79310562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs540290893	chr14:79310566-79310567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145891192	chr14:79310572-79310573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528669614	chr14:79310603-79310604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369255786	chr14:79310654-79310655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78092090	chr14:79310720-79310721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148917475	chr14:79310749-79310750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115393741	chr14:79310797-79310798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550875993	chr14:79310823-79310824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183254648	chr14:79310841-79310842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560903850	chr14:79310866-79310867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73319783	chr14:79310884-79310885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546688750	chr14:79310896-79310897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375905555	chr14:79310963-79310964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538442122	chr14:79311016-79311017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552379223	chr14:79311043-79311044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1991001	chr14:79311046-79311047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	17440070	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79309600-79310000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr14:79310000-79310200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:79310200-79310600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr14:79310600-79315600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:79314000-79317000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:79314200-79314600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr14:79314200-79317800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:79314200-79317800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:79314400-79314600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:79314400-79315000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:79314400-79315600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:79314400-79316800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr14:79314400-79317800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:79314600-79316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:79314600-79317800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:79314600-79318200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:79314800-79317800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:79314800-79318000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr14:79315000-79315400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:79315400-79316600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:79315600-79315800	Enhancers	Fetal Brain Male	brain
22	chr14:79315600-79316200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:79315600-79316800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:79315600-79318000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:79315800-79316400	Weak transcription	Fetal Brain Male	brain
26	chr14:79315800-79316800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:79316200-79316800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:79316400-79316600	Enhancers	Fetal Brain Male	brain
29	chr14:79316400-79316800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr14:79316600-79317600	Weak transcription	Fetal Brain Male	brain
31	chr14:79316600-79324400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:79317000-79317400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:79317400-79318000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:79317600-79318000	Enhancers	Fetal Brain Male	brain
35	chr14:79317800-79318000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:79317800-79318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:79317800-79318200	Enhancers	Brain Cingulate Gyrus	brain
38	chr14:79318000-79318600	Enhancers	Brain Hippocampus Middle	brain
39	chr14:79324000-79325800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:79324400-79324800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:79324400-79325200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:79324400-79326000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:79324600-79324800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:79324600-79325600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:79324600-79325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:79324600-79326000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr14:79324800-79325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:79324800-79325200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:79325000-79325800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr14:79325200-79326800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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