Variant report

Variant	nsv553821
Chromosome Location	chr11:24746937-24775513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1060 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1060 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12805543	chr11:24751408-24751409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530846841	chr11:24751465-24751466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550760501	chr11:24751487-24751488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151139839	chr11:24751495-24751496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535398985	chr11:24751508-24751509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2716464	chr11:24751542-24751543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566484885	chr11:24751560-24751561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538610909	chr11:24751582-24751583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139116541	chr11:24751601-24751602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577883401	chr11:24751602-24751603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537360464	chr11:24751613-24751614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75785170	chr11:24751622-24751623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573893718	chr11:24751660-24751661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113297282	chr11:24751666-24751667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542893771	chr11:24751680-24751681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139577828	chr11:24751689-24751690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4923205	chr11:24751744-24751745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562431506	chr11:24751759-24751760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149904654	chr11:24751794-24751795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1486712	chr11:24751798-24751799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191951090	chr11:24751809-24751810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4923206	chr11:24751859-24751860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371651398	chr11:24751866-24751867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17234959	chr11:24751879-24751880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs552270412	chr11:24751894-24751895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10500989	chr11:24751895-24751896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs35958417	chr11:24751912-24751913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535238742	chr11:24751953-24751954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55796736	chr11:24751954-24751955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79796750	chr11:24751964-24751965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61875747	chr11:24751967-24751968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529902545	chr11:24751989-24751990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546510010	chr11:24752014-24752015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376340129	chr11:24752015-24752016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532125381	chr11:24752026-24752027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368923999	chr11:24752187-24752188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145355510	chr11:24752232-24752233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568518689	chr11:24752314-24752315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537496954	chr11:24752315-24752316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557223805	chr11:24752326-24752327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567653494	chr11:24752328-24752329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536833955	chr11:24752340-24752341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372398583	chr11:24752365-24752366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553311765	chr11:24752367-24752368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575141686	chr11:24752460-24752461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2716455	chr11:24752480-24752481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112338749	chr11:24752498-24752499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558944245	chr11:24752519-24752520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575704134	chr11:24752539-24752540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544654916	chr11:24752591-24752592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24751400-24758600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:24752000-24754600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:24753800-24754600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:24756400-24756800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:24756600-24756800	Enhancers	Liver	Liver
6	chr11:24756800-24760600	Weak transcription	Liver	Liver
7	chr11:24758600-24759400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:24758800-24759400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:24758800-24759400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:24759200-24761200	Enhancers	Dnd41	blood
11	chr11:24760000-24761200	Enhancers	Fetal Thymus	thymus
12	chr11:24760200-24760600	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:24760200-24761200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:24760400-24761000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:24760600-24761000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:24760600-24761000	Enhancers	Thymus	Thymus
17	chr11:24760600-24762000	Enhancers	Liver	Liver
18	chr11:24761200-24768400	Weak transcription	Dnd41	blood
19	chr11:24766600-24767000	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:24767000-24767400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:24767400-24767600	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:24767600-24768600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:24768400-24770000	Enhancers	Dnd41	blood
24	chr11:24768600-24770400	Enhancers	Primary B cells from cord blood	blood
25	chr11:24768600-24770400	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:24768800-24769200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:24768800-24769600	Enhancers	Fetal Muscle Leg	muscle
28	chr11:24768800-24769800	Enhancers	Esophagus	oesophagus
29	chr11:24768800-24769800	Enhancers	Fetal Heart	heart
30	chr11:24768800-24770000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:24768800-24770000	Enhancers	Thymus	Thymus
32	chr11:24768800-24770200	Enhancers	Fetal Thymus	thymus
33	chr11:24769000-24769400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:24769000-24769600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:24769000-24769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:24769000-24779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:24769200-24769600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:24769200-24769600	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:24769200-24769600	Enhancers	Hela-S3	cervix
40	chr11:24769200-24769600	Enhancers	NHEK	skin
41	chr11:24769200-24769800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:24769200-24769800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:24769400-24769800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:24769400-24770200	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:24769600-24770000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:24769600-24770000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:24769800-24776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:24770000-24770200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:24770000-24771000	Weak transcription	Thymus	Thymus
50	chr11:24771000-24771200	ZNF genes & repeats	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links