Variant report

Variant	esv3440516
Chromosome Location	chr11:18242376-18246674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576641771	chr11:18242393-18242394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369473691	chr11:18242506-18242507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549918435	chr11:18242551-18242552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113537621	chr11:18242568-18242569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116740740	chr11:18242596-18242597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535347600	chr11:18242615-18242616	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547316118	chr11:18242655-18242656	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565333695	chr11:18242685-18242686	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539086698	chr11:18242687-18242688	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557480281	chr11:18242727-18242728	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184240515	chr11:18242748-18242749	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189254601	chr11:18242764-18242765	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143058632	chr11:18242798-18242799	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192466449	chr11:18242811-18242812	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184563396	chr11:18242833-18242834	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375905769	chr11:18242875-18242876	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138738996	chr11:18242937-18242938	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188951645	chr11:18242956-18242957	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546170255	chr11:18243016-18243017	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11024561	chr11:18243029-18243030	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114925599	chr11:18243031-18243032	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550040284	chr11:18243049-18243050	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111374504	chr11:18243088-18243089	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376025349	chr11:18243127-18243128	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141094177	chr11:18243131-18243132	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547280869	chr11:18243169-18243170	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565598697	chr11:18243210-18243211	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369634008	chr11:18243267-18243268	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539352470	chr11:18243271-18243272	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56284369	chr11:18243289-18243290	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569568656	chr11:18243302-18243303	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537137875	chr11:18243320-18243321	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114509243	chr11:18243324-18243325	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552316905	chr11:18243329-18243330	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2468813	chr11:18243345-18243346	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536014355	chr11:18243367-18243368	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554407917	chr11:18243368-18243369	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs61882696	chr11:18243369-18243370	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546193692	chr11:18243396-18243397	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564489777	chr11:18243432-18243433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576386452	chr11:18243451-18243452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543894618	chr11:18243456-18243457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562081658	chr11:18243464-18243465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529357463	chr11:18243468-18243469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547144843	chr11:18243474-18243475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146938263	chr11:18243482-18243483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533024720	chr11:18243526-18243527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374415891	chr11:18243543-18243544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562077457	chr11:18243557-18243558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551423118	chr11:18243569-18243570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18242000-18243400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:18242000-18243400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18242600-18243000	Enhancers	HepG2	liver
4	chr11:18243000-18243200	Enhancers	Liver	Liver
5	chr11:18243000-18243400	Flanking Active TSS	HepG2	liver
6	chr11:18243200-18243400	ZNF genes & repeats	Esophagus	oesophagus
7	chr11:18243200-18244600	Weak transcription	Liver	Liver
8	chr11:18243400-18244400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:18243400-18244600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:18243400-18245800	Enhancers	HepG2	liver
11	chr11:18244400-18244600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:18244400-18244800	Enhancers	Spleen	Spleen
13	chr11:18244600-18244800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:18244600-18245000	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:18244600-18245600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:18244600-18247000	Enhancers	Liver	Liver
17	chr11:18244800-18246400	Weak transcription	Spleen	Spleen
18	chr11:18245000-18246600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:18245600-18245800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:18245800-18246200	Flanking Active TSS	HepG2	liver
21	chr11:18246200-18246800	Enhancers	HepG2	liver
22	chr11:18246600-18246800	Enhancers	Spleen	Spleen
23	chr11:18246600-18249400	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links