Variant report

Variant	esv3310820
Chromosome Location	chr14:104075850-104077580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104074469..104076421-chr14:104076600..104079246,2	K562	blood:
2	chr14:104074469..104076421-chr14:104076600..104079246,2	K562	blood:
3	chr14:104064278..104066536-chr14:104074271..104076591,2	MCF-7	breast:
4	chr14:104073010..104076125-chr14:104181634..104184420,3	MCF-7	breast:
5	chr14:104033774..104035610-chr14:104074233..104076261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100711	chromatin interactions
ENSG00000126215	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559435002	chr14:104075903-104075904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143132629	chr14:104075925-104075926	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs61995762	chr14:104075959-104075960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545463339	chr14:104075985-104075986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs386780970	chr14:104076065-104076066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565169238	chr14:104076080-104076081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150841563	chr14:104076144-104076145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544580569	chr14:104076187-104076188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561587222	chr14:104076208-104076209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57736032	chr14:104076300-104076301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547185636	chr14:104076302-104076303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567046575	chr14:104076314-104076315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532277484	chr14:104076323-104076324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552237686	chr14:104076367-104076368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568804107	chr14:104076384-104076385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185894388	chr14:104076385-104076386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554579853	chr14:104076575-104076576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567982388	chr14:104076583-104076584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71126044	chr14:104076618-104076619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533761445	chr14:104076633-104076634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553580868	chr14:104076638-104076639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4906340	chr14:104076645-104076646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs537220950	chr14:104076665-104076666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139258373	chr14:104076685-104076686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149970929	chr14:104076701-104076702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575557848	chr14:104076735-104076736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557236263	chr14:104076736-104076737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190059132	chr14:104076747-104076748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561589732	chr14:104076775-104076776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567578580	chr14:104076784-104076785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4906341	chr14:104076812-104076813	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs552981820	chr14:104076877-104076878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560705139	chr14:104076924-104076925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532747926	chr14:104076925-104076926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143461737	chr14:104076928-104076929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373899265	chr14:104076961-104076962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568897055	chr14:104076977-104076978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531226159	chr14:104076986-104076987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548142199	chr14:104077005-104077006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146732696	chr14:104077010-104077011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533870550	chr14:104077053-104077054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368061806	chr14:104077063-104077064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553641099	chr14:104077064-104077065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572730993	chr14:104077067-104077068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545125353	chr14:104077078-104077079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368274902	chr14:104077093-104077094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570361064	chr14:104077131-104077132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539578272	chr14:104077138-104077139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140323876	chr14:104077183-104077184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558798787	chr14:104077199-104077200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Lung cancer	18438408	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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104060200-104090200	Weak transcription	Pancreas	Pancrea
2	chr14:104074600-104077600	Weak transcription	Brain Angular Gyrus	brain
3	chr14:104075000-104076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:104075000-104077600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:104075200-104076200	Weak transcription	Right Ventricle	heart
6	chr14:104076200-104076400	Enhancers	Right Ventricle	heart
7	chr14:104076800-104078200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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