Variant report

Variant	nsv553820
Chromosome Location	chr11:24583891-24633951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:24633675..24635960-chr11:24640173..24641928,2	MCF-7	breast:
2	chr11:24614743..24616666-chr11:24619987..24622477,2	K562	blood:
3	chr11:24601988..24604927-chr11:24607850..24610565,2	MCF-7	breast:
4	chr11:24630589..24632702-chr11:24693704..24695798,2	K562	blood:
5	chr10:88282828..88283523-chr11:24625182..24626065,2	MCF-7	breast:
6	chr11:24616790..24617455-chr12:118453452..118454276,2	MCF-7	breast:
7	chr11:24601988..24604927-chr11:24607850..24610565,2	MCF-7	breast:
8	chr11:24614743..24616666-chr11:24619987..24622477,2	K562	blood:

No data

Extended variants
information (count: 832 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532139928	chr11:24586417-24586418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151116128	chr11:24586418-24586419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185393875	chr11:24586432-24586433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531382613	chr11:24586440-24586441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139696199	chr11:24586620-24586621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568179785	chr11:24586650-24586651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144570520	chr11:24586655-24586656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147908518	chr11:24586663-24586664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117056818	chr11:24586672-24586673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539197031	chr11:24586675-24586676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72874880	chr11:24586676-24586677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141610882	chr11:24586708-24586709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189694546	chr11:24586733-24586734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147058166	chr11:24586772-24586773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7948439	chr11:24586792-24586793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533886449	chr11:24587214-24587215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553893622	chr11:24587249-24587250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191072432	chr11:24587319-24587320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148050149	chr11:24587332-24587333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536424745	chr11:24587373-24587374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12364600	chr11:24589239-24589240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs565889687	chr11:24589317-24589318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147466184	chr11:24589331-24589332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558131318	chr11:24589424-24589425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191147619	chr11:24589432-24589433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576948797	chr11:24589467-24589468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139848708	chr11:24589508-24589509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145497446	chr11:24589529-24589530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573527333	chr11:24589535-24589536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542328194	chr11:24589561-24589562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558985844	chr11:24589598-24589599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576276440	chr11:24594000-24594001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11028027	chr11:24594083-24594084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143344286	chr11:24594120-24594121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147535405	chr11:24594129-24594130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1509593	chr11:24594134-24594135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs981895	chr11:24594148-24594149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10834389	chr11:24594168-24594169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550301476	chr11:24594171-24594172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192877857	chr11:24594232-24594233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535691298	chr11:24594235-24594236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1876823	chr11:24594238-24594239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185397184	chr11:24594243-24594244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73431181	chr11:24594279-24594280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534930694	chr11:24594287-24594288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11600443	chr11:24594294-24594295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376633213	chr11:24594324-24594325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10834390	chr11:24594339-24594340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187593761	chr11:24594340-24594341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573384559	chr11:24594352-24594353	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24586400-24586800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr11:24587200-24587400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:24589200-24589600	Enhancers	HUVEC	blood vessel
4	chr11:24594000-24594400	Enhancers	Fetal Brain Male	brain
5	chr11:24594200-24595000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:24596000-24596800	Enhancers	HUVEC	blood vessel
7	chr11:24596000-24597800	Enhancers	Hela-S3	cervix
8	chr11:24596200-24596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:24596200-24597600	Enhancers	NHEK	skin
10	chr11:24596600-24597400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:24596600-24597600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:24596800-24597000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:24596800-24597400	Flanking Active TSS	HUVEC	blood vessel
14	chr11:24596800-24597600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:24596800-24597600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:24596800-24597600	Enhancers	NH-A	brain
17	chr11:24597200-24598800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:24597400-24598200	Enhancers	HUVEC	blood vessel
19	chr11:24598800-24600200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:24599400-24599600	Enhancers	Right Atrium	heart
21	chr11:24605800-24607600	Enhancers	Hela-S3	cervix
22	chr11:24606200-24607000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:24606400-24607400	Enhancers	NH-A	brain
24	chr11:24606400-24607800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:24606600-24607400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:24606600-24607400	Enhancers	Fetal Intestine Small	intestine
27	chr11:24606800-24607000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:24606800-24607400	Enhancers	HUVEC	blood vessel
29	chr11:24607000-24609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:24607000-24609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:24607400-24608800	Weak transcription	NH-A	brain
32	chr11:24607400-24609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:24607400-24609000	Weak transcription	HUVEC	blood vessel
34	chr11:24607600-24609000	Weak transcription	Hela-S3	cervix
35	chr11:24608800-24610000	Enhancers	NH-A	brain
36	chr11:24609000-24610000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:24609000-24610000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:24609000-24610200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:24609000-24610200	Enhancers	Hela-S3	cervix
40	chr11:24609000-24610200	Enhancers	HUVEC	blood vessel
41	chr11:24609200-24609600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:24609400-24610000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:24609400-24610200	Enhancers	NHEK	skin
44	chr11:24610000-24613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:24610000-24614000	Weak transcription	NH-A	brain
46	chr11:24610000-24615000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:24610200-24612800	Weak transcription	Hela-S3	cervix
48	chr11:24610200-24613400	Weak transcription	HUVEC	blood vessel
49	chr11:24612800-24616200	Enhancers	Hela-S3	cervix
50	chr11:24613400-24614400	Enhancers	HUVEC	blood vessel

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