Variant report

Variant	nsv555607
Chromosome Location	chr11:83591584-83620940
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	chr11:83614752..83617577-chr5:179125435..179127727,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127022	chromatin interactions

Extended variants
information (count: 1335 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1335 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10898166	chr11:83591584-83591585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112223006	chr11:83591590-83591591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574733079	chr11:83591596-83591597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190229926	chr11:83591639-83591640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56263089	chr11:83591675-83591676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564427756	chr11:83591683-83591684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61900049	chr11:83591694-83591695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546751689	chr11:83591707-83591708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116404471	chr11:83591711-83591712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368030247	chr11:83591743-83591744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182379569	chr11:83591774-83591775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550383567	chr11:83591822-83591823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144744379	chr11:83591840-83591841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57823093	chr11:83591841-83591842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186560355	chr11:83591858-83591859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79970939	chr11:83591869-83591870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57457735	chr11:83591881-83591882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555567221	chr11:83591908-83591909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573774983	chr11:83591930-83591931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544421795	chr11:83591956-83591957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563612953	chr11:83591974-83591975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532201158	chr11:83592024-83592025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141844485	chr11:83592049-83592050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11826675	chr11:83592054-83592055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190573217	chr11:83592059-83592060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528729414	chr11:83592074-83592075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200992628	chr11:83592081-83592082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10898167	chr11:83592082-83592083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368315991	chr11:83592083-83592084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200879969	chr11:83592084-83592085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202105829	chr11:83592091-83592092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398016926	chr11:83592098-83592099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529449808	chr11:83592117-83592118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375508595	chr11:83592126-83592127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183120760	chr11:83592128-83592129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185584472	chr11:83592129-83592130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545483592	chr11:83592160-83592161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562492715	chr11:83592161-83592162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369831889	chr11:83592185-83592186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191475721	chr11:83592233-83592234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182381472	chr11:83592238-83592239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187885267	chr11:83592268-83592269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192519849	chr11:83592288-83592289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183213464	chr11:83592317-83592318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11233775	chr11:83592326-83592327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs556368171	chr11:83592333-83592334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575610722	chr11:83592361-83592362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187903254	chr11:83592371-83592372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559227769	chr11:83592373-83592374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1557431	chr11:83592397-83592398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83577400-83606800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:83578000-83606800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:83585200-83606600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:83585200-83606600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:83601800-83603200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:83602600-83603000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:83602600-83603200	Enhancers	Liver	Liver
8	chr11:83603000-83606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:83606200-83608800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:83606400-83607000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:83606400-83607200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:83606400-83607200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:83606400-83607200	Enhancers	Fetal Heart	heart
14	chr11:83606400-83608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:83606600-83606800	Enhancers	Brain Hippocampus Middle	brain
16	chr11:83606600-83607000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:83606600-83607200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:83606600-83607400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:83606600-83607600	Enhancers	Brain Anterior Caudate	brain
20	chr11:83606600-83607800	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:83606800-83607200	Enhancers	Brain Angular Gyrus	brain
22	chr11:83606800-83607200	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:83606800-83607400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:83606800-83608400	Enhancers	Brain Substantia Nigra	brain
25	chr11:83607000-83608000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:83607000-83611400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:83607200-83608400	Enhancers	Brain Hippocampus Middle	brain
28	chr11:83607200-83628800	Weak transcription	Brain Angular Gyrus	brain
29	chr11:83607400-83607800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:83607800-83608200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:83607800-83608800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:83608000-83609000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:83608200-83608400	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:83608400-83620800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:83608400-83634600	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:83608800-83629400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:83609200-83616600	Weak transcription	Pancreas	Pancrea
38	chr11:83615800-83616600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:83618000-83618200	Enhancers	Brain Anterior Caudate	brain
40	chr11:83618200-83641200	Weak transcription	Brain Anterior Caudate	brain
41	chr11:83618800-83623600	Enhancers	Liver	Liver
42	chr11:83620000-83620600	Enhancers	Brain Germinal Matrix	brain
43	chr11:83620200-83622400	Enhancers	Fetal Kidney	kidney
44	chr11:83620800-83621000	Enhancers	Brain Cingulate Gyrus	brain

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