Variant report

Variant	nsv442
Chromosome Location	chr11:93665117-93717973
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
2	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
3	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
4	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
5	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
6	chr11:93667365..93670015-chr11:93861067..93863754,2	MCF-7	breast:
7	chr11:93710125..93711813-chr11:93711990..93713968,2	K562	blood:
8	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
9	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
10	chr11:93715164..93717058-chr11:93768133..93770763,2	K562	blood:
11	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
12	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
13	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
14	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
15	chr11:93710641..93713058-chr11:93716292..93719864,4	K562	blood:
16	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
17	chr11:93710641..93712864-chr11:93716292..93719148,2	K562	blood:
18	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
19	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
20	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:
21	chr11:93667177..93668967-chr11:93861410..93863273,2	K562	blood:
22	chr11:93710641..93712864-chr11:93716292..93719148,2	K562	blood:
23	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
24	chr11:93710125..93711813-chr11:93711990..93713968,2	K562	blood:
25	chr11:93710641..93713058-chr11:93716292..93719864,4	K562	blood:
26	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272709	chromatin interactions
ENSG00000110218	chromatin interactions

Extended variants
information (count: 1803 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1803 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532943053	chr11:93665139-93665140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6483283	chr11:93665146-93665147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567848058	chr11:93665182-93665183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536723306	chr11:93665184-93665185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565523201	chr11:93665187-93665188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537522103	chr11:93665194-93665195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556782307	chr11:93665208-93665209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555834607	chr11:93665245-93665246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4753521	chr11:93665266-93665267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567540312	chr11:93665268-93665269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535371307	chr11:93665299-93665300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192654600	chr11:93665305-93665306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61904838	chr11:93665376-93665377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184463109	chr11:93665377-93665378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189174944	chr11:93665393-93665394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557451420	chr11:93665399-93665400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138686564	chr11:93665403-93665404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548164057	chr11:93665405-93665406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141805047	chr11:93665413-93665414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543097393	chr11:93665449-93665450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371540353	chr11:93665477-93665478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192237595	chr11:93665509-93665510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141713158	chr11:93665520-93665521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7936182	chr11:93665532-93665533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76153740	chr11:93665538-93665539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35945948	chr11:93665566-93665567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551632817	chr11:93665568-93665569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79319611	chr11:93665579-93665580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35894426	chr11:93665610-93665611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573024729	chr11:93665612-93665613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76573013	chr11:93665661-93665662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs950878	chr11:93665688-93665689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs189594520	chr11:93665706-93665707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534667957	chr11:93665789-93665790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547286219	chr11:93665833-93665834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373585993	chr11:93665842-93665843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146236566	chr11:93665875-93665876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180897579	chr11:93665881-93665882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557166660	chr11:93665940-93665941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375445187	chr11:93665954-93665955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575430900	chr11:93665999-93666000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114241733	chr11:93666049-93666050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555131195	chr11:93666081-93666082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573598884	chr11:93666185-93666186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540644382	chr11:93666197-93666198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139236692	chr11:93666200-93666201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555777488	chr11:93666210-93666211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10501809	chr11:93666263-93666264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs186123053	chr11:93666285-93666286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115851290	chr11:93666290-93666291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93656400-93669000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93669000-93670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93669400-93670200	Enhancers	Fetal Brain Female	brain
4	chr11:93669400-93670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:93669400-93670400	Enhancers	NHEK	skin
6	chr11:93669400-93671800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:93669600-93669800	Enhancers	HMEC	breast
8	chr11:93669600-93670000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:93669600-93670400	Enhancers	Fetal Brain Male	brain
10	chr11:93669800-93670200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:93670000-93671200	Weak transcription	HMEC	breast
12	chr11:93670400-93671400	Weak transcription	NHEK	skin
13	chr11:93670400-93671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:93670400-93671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:93670400-93671600	Weak transcription	Fetal Brain Male	brain
16	chr11:93671200-93675600	Enhancers	HMEC	breast
17	chr11:93671400-93672200	Enhancers	NHEK	skin
18	chr11:93671600-93672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:93671600-93675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:93671800-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:93672000-93672400	Enhancers	NH-A	brain
22	chr11:93672000-93673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:93672000-93673400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:93672200-93672600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr11:93672200-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:93672200-93672600	Flanking Active TSS	NHEK	skin
27	chr11:93672200-93673200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:93672600-93674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:93672600-93675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:93672600-93675600	Enhancers	NHEK	skin
31	chr11:93673400-93674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:93674200-93675200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:93674800-93675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:93675400-93678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:93675600-93678400	Weak transcription	HMEC	breast
36	chr11:93675600-93678600	Weak transcription	NHEK	skin
37	chr11:93678400-93678600	Enhancers	HSMMtube	muscle
38	chr11:93678400-93678800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:93678400-93679000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:93678400-93679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:93678400-93679200	Enhancers	HMEC	breast
42	chr11:93678600-93678800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:93678600-93678800	Flanking Active TSS	HSMM	muscle
44	chr11:93678600-93679000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:93678600-93679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:93678600-93679000	Flanking Active TSS	HSMMtube	muscle
47	chr11:93678600-93679000	Bivalent Enhancer	Osteobl	bone
48	chr11:93678600-93679200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:93678600-93679200	Enhancers	NHEK	skin
50	chr11:93678800-93679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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