Variant report

Variant	nsv975960
Chromosome Location	chr11:86735786-86740095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86729696..86732227-chr11:86739805..86742002,2	MCF-7	breast:
2	chr11:86736816..86738762-chr11:86750724..86753457,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566694938	chr11:86735796-86735797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374840204	chr11:86735807-86735808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535918966	chr11:86735824-86735825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190403779	chr11:86735828-86735829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537850912	chr11:86735837-86735838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113082794	chr11:86735899-86735900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367947742	chr11:86735912-86735913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181680426	chr11:86735959-86735960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138581250	chr11:86735984-86735985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186677186	chr11:86736027-86736028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573910556	chr11:86736040-86736041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56117749	chr11:86736073-86736074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538053339	chr11:86736142-86736143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561604533	chr11:86736145-86736146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542550858	chr11:86736177-86736178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149305543	chr11:86736220-86736221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144606697	chr11:86736246-86736247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533235969	chr11:86736247-86736248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564133732	chr11:86736251-86736252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10792900	chr11:86736282-86736283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58398967	chr11:86736292-86736293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369481135	chr11:86736294-86736295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531188517	chr11:86736296-86736297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11234913	chr11:86736327-86736328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs71040287	chr11:86736370-86736371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57417734	chr11:86736404-86736405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397814020	chr11:86736405-86736406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200716127	chr11:86736406-86736407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377165025	chr11:86736443-86736444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201726476	chr11:86736490-86736491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7927570	chr11:86736525-86736526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs145923850	chr11:86736527-86736528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149160005	chr11:86736542-86736543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569240653	chr11:86736556-86736557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538343915	chr11:86736566-86736567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551443450	chr11:86736584-86736585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78304614	chr11:86736683-86736684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534191058	chr11:86736694-86736695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139824393	chr11:86736696-86736697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574024103	chr11:86736744-86736745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536444778	chr11:86736764-86736765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11234914	chr11:86736768-86736769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376290691	chr11:86736797-86736798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116886124	chr11:86736798-86736799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564035762	chr11:86736855-86736856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577695315	chr11:86736874-86736875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370674418	chr11:86736884-86736885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540258696	chr11:86736889-86736890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs41376049	chr11:86736891-86736892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs529226084	chr11:86736953-86736954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86731400-86737800	Weak transcription	Fetal Heart	heart
2	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:86732400-86739400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:86732600-86738800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:86734200-86737400	Weak transcription	Left Ventricle	heart
6	chr11:86734400-86739600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86735600-86735800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86735800-86748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:86738800-86741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:86739000-86740000	Enhancers	HepG2	liver
11	chr11:86739200-86740600	Enhancers	NHEK	skin
12	chr11:86739200-86742000	Enhancers	HMEC	breast
13	chr11:86739400-86739800	Enhancers	Fetal Stomach	stomach
14	chr11:86739400-86741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:86739600-86740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:86739600-86740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:86739800-86740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:86739800-86741000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:86739800-86741400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:86740000-86740400	Enhancers	Fetal Stomach	stomach
21	chr11:86740000-86740600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:86740000-86740600	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:86740000-86740600	Flanking Active TSS	HepG2	liver

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