Variant report

Variant	nsv522581
Chromosome Location	chr11:24637870-24657338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24633675..24635960-chr11:24640173..24641928,2	MCF-7	breast:
2	chr11:24637190..24639298-chr11:24640996..24643885,2	K562	blood:
3	chr11:24580149..24580792-chr11:24639250..24640044,2	MCF-7	breast:
4	chr11:24637190..24639298-chr11:24640996..24643885,2	K562	blood:

Extended variants
information (count: 299 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7119179	chr11:24637870-24637871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577662600	chr11:24637908-24637909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73433068	chr11:24637914-24637915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556282330	chr11:24637937-24637938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576297653	chr11:24637945-24637946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12293420	chr11:24637972-24637973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34321439	chr11:24637985-24637986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79962133	chr11:24637992-24637993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148276843	chr11:24637993-24637994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77740271	chr11:24638014-24638015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71041787	chr11:24638015-24638016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71894225	chr11:24638018-24638019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201675157	chr11:24638019-24638020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375973227	chr11:24638020-24638021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374260342	chr11:24638021-24638022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202140144	chr11:24638022-24638023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56254525	chr11:24638024-24638025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56175528	chr11:24638026-24638027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61413263	chr11:24638048-24638049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373585613	chr11:24638088-24638089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376921879	chr11:24638119-24638120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532998741	chr11:24638134-24638135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546091446	chr11:24638163-24638164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71456130	chr11:24638188-24638189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12287940	chr11:24638189-24638190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569414852	chr11:24641606-24641607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560292713	chr11:24641612-24641613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538338454	chr11:24641616-24641617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116073450	chr11:24641654-24641655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574671017	chr11:24641660-24641661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192797115	chr11:24641664-24641665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185501844	chr11:24641667-24641668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189172588	chr11:24641699-24641700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11028072	chr11:24641726-24641727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11028073	chr11:24641758-24641759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140903704	chr11:24641806-24641807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386751683	chr11:24641809-24641810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114322593	chr11:24641810-24641811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558679181	chr11:24641813-24641814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376744369	chr11:24641861-24641862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12418943	chr11:24641934-24641935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530250629	chr11:24641944-24641945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566177486	chr11:24641975-24641976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192602165	chr11:24641981-24641982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139954484	chr11:24641982-24641983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567059035	chr11:24642010-24642011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537781379	chr11:24642035-24642036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12099381	chr11:24642040-24642041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569252337	chr11:24642048-24642049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143469835	chr11:24642071-24642072	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
T-cell prolymphocytic leukemia	17713554	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24637800-24638200	Enhancers	Fetal Brain Male	brain
2	chr11:24641600-24643200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:24643200-24644000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:24644000-24644200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:24644000-24644400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:24644000-24644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:24644600-24645200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:24646000-24646600	Enhancers	Fetal Intestine Large	intestine
9	chr11:24649600-24650000	Enhancers	Fetal Brain Male	brain
10	chr11:24649600-24650000	Enhancers	Fetal Heart	heart
11	chr11:24656400-24658600	Enhancers	Hela-S3	cervix
12	chr11:24657200-24657400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:24657200-24657600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:24657200-24657600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:24657200-24658000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:24657200-24658400	Enhancers	NHEK	skin
17	chr11:24657200-24659600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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