Variant report

Variant	esv3430558
Chromosome Location	chr10:19338296-19340344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:19338469-19338748	HepG2	liver:	n/a	chr10:19338622-19338629 chr10:19338619-19338630 chr10:19338621-19338630 chr10:19338619-19338631 chr10:19338620-19338630 chr10:19338620-19338629 chr10:19338621-19338629

Variant related genes	Relation type
UBE2V2P1	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377693494	chr10:19338299-19338300	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs538992665	chr10:19338351-19338352	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557405892	chr10:19338374-19338375	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528300902	chr10:19338377-19338378	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192537494	chr10:19338421-19338422	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546878781	chr10:19338426-19338427	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555334598	chr10:19338437-19338438	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76415137	chr10:19338477-19338478	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540867741	chr10:19338523-19338524	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140399074	chr10:19338528-19338529	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145601522	chr10:19338552-19338553	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543779545	chr10:19338556-19338557	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs138177966	chr10:19338566-19338567	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529677632	chr10:19338578-19338579	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141220500	chr10:19338596-19338597	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560444709	chr10:19338649-19338650	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527449195	chr10:19338691-19338692	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561978485	chr10:19338795-19338796	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185597777	chr10:19338801-19338802	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7893968	chr10:19338831-19338832	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550285662	chr10:19338839-19338840	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532674345	chr10:19338888-19338889	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145039471	chr10:19338929-19338930	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148328888	chr10:19338940-19338941	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536682533	chr10:19338946-19338947	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141484023	chr10:19338951-19338952	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150877130	chr10:19338969-19338970	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534090458	chr10:19338987-19338988	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71507275	chr10:19339001-19339002	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76597131	chr10:19339014-19339015	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569074474	chr10:19339033-19339034	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113682640	chr10:19339034-19339035	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369752020	chr10:19339045-19339046	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs112060266	chr10:19339064-19339065	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559130879	chr10:19339072-19339073	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577395832	chr10:19339163-19339164	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536814661	chr10:19339177-19339178	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555881184	chr10:19339197-19339198	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574092066	chr10:19339208-19339209	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs11592251	chr10:19339234-19339235	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs189035606	chr10:19339254-19339255	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560148821	chr10:19339262-19339263	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527597487	chr10:19339263-19339264	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374090989	chr10:19339289-19339290	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374593864	chr10:19339305-19339306	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545649584	chr10:19339311-19339312	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs71387039	chr10:19339318-19339319	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138295286	chr10:19339328-19339329	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116182171	chr10:19339346-19339347	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370006834	chr10:19339372-19339373	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19335400-19341400	Active TSS	Duodenum Mucosa	Duodenum
2	chr10:19335800-19340200	Active TSS	Fetal Intestine Small	intestine
3	chr10:19335800-19340400	Active TSS	Fetal Intestine Large	intestine
4	chr10:19337400-19338400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:19337800-19338800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr10:19337800-19340000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr10:19338000-19338400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:19338400-19338800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:19338400-19341600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:19340200-19340400	Enhancers	Fetal Intestine Small	intestine

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