Variant report

Variant	esv3395787
Chromosome Location	chr11:15491376-15493524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150904654	chr11:15491433-15491434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369415001	chr11:15491450-15491451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551709189	chr11:15491461-15491462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185067724	chr11:15491484-15491485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143180923	chr11:15491490-15491491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373623324	chr11:15491547-15491548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544262179	chr11:15491548-15491549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563156909	chr11:15491563-15491564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561842596	chr11:15491607-15491608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7946912	chr11:15491635-15491636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7947009	chr11:15491697-15491698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566913422	chr11:15491700-15491701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188318238	chr11:15491725-15491726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117571513	chr11:15491760-15491761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7947152	chr11:15491837-15491838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537834007	chr11:15491841-15491842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556166942	chr11:15491852-15491853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180950165	chr11:15491933-15491934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568173709	chr11:15491935-15491936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186998445	chr11:15491940-15491941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192397245	chr11:15491949-15491950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117866978	chr11:15491978-15491979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540467237	chr11:15492006-15492007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558675474	chr11:15492044-15492045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577044507	chr11:15492156-15492157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183308388	chr11:15492232-15492233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562437294	chr11:15492289-15492290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377595637	chr11:15492340-15492341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112345234	chr11:15492354-15492355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149899949	chr11:15492355-15492356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114243406	chr11:15492371-15492372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145028716	chr11:15492372-15492373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186239707	chr11:15492429-15492430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552390624	chr11:15492445-15492446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547626192	chr11:15492468-15492469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190147189	chr11:15492530-15492531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377610060	chr11:15492537-15492538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149084727	chr11:15492671-15492672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549878616	chr11:15492687-15492688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182828029	chr11:15492688-15492689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535843876	chr11:15492697-15492698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375496235	chr11:15492721-15492722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566798222	chr11:15492729-15492730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533957911	chr11:15492730-15492731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371858891	chr11:15492804-15492805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558812374	chr11:15492806-15492807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12805912	chr11:15492832-15492833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537904606	chr11:15492884-15492885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142141068	chr11:15492904-15492905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566546886	chr11:15492919-15492920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	16608533	CNVD
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
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15489400-15492600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:15490600-15493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:15492400-15496600	Enhancers	Fetal Intestine Small	intestine
4	chr11:15492400-15496800	Enhancers	Fetal Intestine Large	intestine
5	chr11:15492600-15493200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:15492600-15494200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:15492600-15494600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:15492600-15494800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:15492600-15494800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:15492600-15495400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:15492600-15496000	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:15492800-15493000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:15492800-15493000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:15492800-15493200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:15492800-15493200	Enhancers	GM12878-XiMat	blood
16	chr11:15492800-15493400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:15492800-15493400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:15492800-15493600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr11:15492800-15494600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:15492800-15495400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:15493000-15493200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:15493000-15493200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:15493000-15493200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr11:15493000-15493400	Enhancers	Liver	Liver
25	chr11:15493000-15493800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:15493000-15494400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:15493000-15494400	Enhancers	Stomach Mucosa	stomach
28	chr11:15493200-15493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:15493200-15493600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:15493200-15493600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:15493200-15494000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:15493200-15494200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:15493200-15495000	Weak transcription	GM12878-XiMat	blood
34	chr11:15493400-15493600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:15493400-15493600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:15493400-15493800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:15493400-15494600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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