Variant report

Variant	esv20720
Chromosome Location	chr14:35362907-35374689
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35342299..35344580-chr14:35362936..35364444,2	K562	blood:
2	chr14:35370120..35372275-chr14:35372286..35374430,3	K562	blood:
3	chr14:35363874..35366467-chr14:35451081..35453082,2	MCF-7	breast:
4	chr14:35340774..35347210-chr14:35373911..35377911,7	K562	blood:
5	chr14:35342308..35344409-chr14:35373836..35375775,2	K562	blood:
6	chr14:35357879..35360041-chr14:35362909..35365006,2	K562	blood:
7	chr14:35370120..35372275-chr14:35372286..35374430,3	K562	blood:
8	chr14:35342338..35344567-chr14:35370175..35372509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198604	chromatin interactions
ENSG00000258738	chromatin interactions
ENSG00000258704	chromatin interactions
ENSG00000100883	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs569224267	chr14:35362938-35362939	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149790683	chr14:35362962-35362963	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577499326	chr14:35362982-35362983	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529618450	chr14:35363027-35363028	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546153348	chr14:35363081-35363082	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571614441	chr14:35363100-35363101	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575213352	chr14:35363101-35363102	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111746894	chr14:35363112-35363113	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368666360	chr14:35363113-35363114	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs71121239	chr14:35363135-35363136	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201382530	chr14:35363148-35363149	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201885465	chr14:35363155-35363156	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543233658	chr14:35363158-35363159	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147487114	chr14:35363182-35363183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553969842	chr14:35363191-35363192	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567793978	chr14:35363200-35363201	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535522147	chr14:35363264-35363265	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184507929	chr14:35363288-35363289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551420151	chr14:35363321-35363322	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188873192	chr14:35363343-35363344	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563523293	chr14:35363434-35363435	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537843536	chr14:35363435-35363436	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112760841	chr14:35363441-35363442	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145351279	chr14:35363447-35363448	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562746160	chr14:35363449-35363450	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs181096131	chr14:35363467-35363468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs184520922	chr14:35363551-35363552	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571736432	chr14:35363637-35363638	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189038602	chr14:35363665-35363666	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374773440	chr14:35363695-35363696	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368006762	chr14:35363741-35363742	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147743811	chr14:35363757-35363758	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551379177	chr14:35363859-35363860	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs182481157	chr14:35363875-35363876	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs111325279	chr14:35363880-35363881	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554122150	chr14:35363895-35363896	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs17102823	chr14:35363904-35363905	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547721848	chr14:35363912-35363913	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs114195642	chr14:35363920-35363921	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs564260479	chr14:35363926-35363927	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs17102825	chr14:35363938-35363939	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs568871502	chr14:35363977-35363978	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs537811699	chr14:35363986-35363987	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs12590110	chr14:35363994-35363995	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs148807718	chr14:35364005-35364006	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs12590112	chr14:35364015-35364016	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs374712677	chr14:35364043-35364044	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs534069782	chr14:35364110-35364111	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs531792186	chr14:35364154-35364155	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs187323406	chr14:35364188-35364189	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Esophageal cancer	20955586	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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35364000-35365600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:35364400-35364800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:35364400-35365400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:35364400-35365400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:35364600-35364800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:35364600-35365600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:35364600-35365800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:35364800-35365000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:35364800-35365200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:35364800-35365400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:35365000-35365200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:35365200-35365400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:35374400-35389400	Weak transcription	Ovary	ovary

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