Variant report

Variant	nsv877100
Chromosome Location	chr3:85234199-85336559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
2	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
3	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
4	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:

Extended variants
information (count: 1547 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1547 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1452117	chr3:85234199-85234200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112454903	chr3:85234209-85234210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570867530	chr3:85234260-85234261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368159557	chr3:85234364-85234365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371828744	chr3:85234367-85234368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550514261	chr3:85234381-85234382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115937679	chr3:85234419-85234420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536539784	chr3:85234420-85234421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548535536	chr3:85234422-85234423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567035705	chr3:85234450-85234451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35913630	chr3:85234481-85234482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534106459	chr3:85234492-85234493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553045189	chr3:85234513-85234514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577769663	chr3:85234539-85234540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538639159	chr3:85234556-85234557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371270788	chr3:85234602-85234603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113963821	chr3:85234678-85234679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72909170	chr3:85234683-85234684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542927060	chr3:85234743-85234744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560954120	chr3:85235014-85235015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553286555	chr3:85235016-85235017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573015724	chr3:85235066-85235067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556886973	chr3:85235090-85235091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559827084	chr3:85235095-85235096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540014368	chr3:85235168-85235169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565383003	chr3:85235175-85235176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374777047	chr3:85235217-85235218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550602161	chr3:85235277-85235278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562529618	chr3:85235289-85235290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72909172	chr3:85235314-85235315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150026703	chr3:85235319-85235320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567021096	chr3:85235320-85235321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534411469	chr3:85235338-85235339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11127882	chr3:85235355-85235356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144348894	chr3:85235396-85235397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551975614	chr3:85235421-85235422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557030112	chr3:85235476-85235477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114628914	chr3:85235498-85235499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148631925	chr3:85235518-85235519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554863376	chr3:85235523-85235524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573008162	chr3:85235541-85235542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186884198	chr3:85235551-85235552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191120958	chr3:85235553-85235554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369311699	chr3:85235568-85235569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558322301	chr3:85235615-85235616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183783730	chr3:85235618-85235619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373878408	chr3:85235632-85235633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571726272	chr3:85235687-85235688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143303573	chr3:85235716-85235717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79068569	chr3:85235777-85235778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85224400-85235000	Weak transcription	Brain Anterior Caudate	brain
2	chr3:85232600-85234400	Enhancers	Brain Substantia Nigra	brain
3	chr3:85232800-85234800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:85233800-85234200	Enhancers	Brain Angular Gyrus	brain
5	chr3:85233800-85234400	Enhancers	Brain Hippocampus Middle	brain
6	chr3:85234200-85235800	Weak transcription	Brain Angular Gyrus	brain
7	chr3:85234400-85235800	Weak transcription	Brain Substantia Nigra	brain
8	chr3:85234800-85235200	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:85235000-85235200	Enhancers	Brain Anterior Caudate	brain
10	chr3:85235800-85236000	Enhancers	Brain Angular Gyrus	brain
11	chr3:85235800-85236000	Enhancers	Brain Substantia Nigra	brain
12	chr3:85239200-85239600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:85251200-85252200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:85251800-85252200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr3:85256000-85257400	Enhancers	Fetal Brain Female	brain
16	chr3:85256200-85257600	Enhancers	Fetal Brain Male	brain
17	chr3:85263400-85265800	Weak transcription	Brain Angular Gyrus	brain
18	chr3:85273200-85273400	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr3:85273400-85278200	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:85277800-85278600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:85277800-85278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:85278000-85278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:85278000-85279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:85278200-85278400	Enhancers	Brain Hippocampus Middle	brain
25	chr3:85278200-85278600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:85278200-85278600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:85278200-85278600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:85278200-85278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:85278400-85279200	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:85278400-85279600	Enhancers	Brain Substantia Nigra	brain
31	chr3:85279200-85279800	Enhancers	Brain Hippocampus Middle	brain
32	chr3:85288200-85288400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:85288400-85289600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:85288400-85307600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:85289600-85291200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:85292400-85295800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:85302600-85302800	Enhancers	Brain Cingulate Gyrus	brain
38	chr3:85302600-85303000	Enhancers	Brain Germinal Matrix	brain
39	chr3:85302800-85303800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:85303000-85308200	Weak transcription	Brain Germinal Matrix	brain
41	chr3:85303600-85303800	Enhancers	Brain Anterior Caudate	brain
42	chr3:85303600-85304600	Enhancers	Brain Angular Gyrus	brain
43	chr3:85303600-85305400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:85303800-85304000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:85303800-85304400	Enhancers	Brain Cingulate Gyrus	brain
46	chr3:85304000-85304200	Enhancers	Brain Substantia Nigra	brain
47	chr3:85304200-85305200	Enhancers	Brain Hippocampus Middle	brain
48	chr3:85304200-85305200	Weak transcription	Brain Substantia Nigra	brain
49	chr3:85304200-85307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:85304400-85307600	Weak transcription	Brain Cingulate Gyrus	brain

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