Variant report

Variant	nsv590911
Chromosome Location	chr3:85789007-85820416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85801802..85803723-chr3:85806304..85808705,2	MCF-7	breast:
2	chr3:85801802..85803723-chr3:85806304..85808705,2	MCF-7	breast:
3	chr3:85801276..85804011-chr3:85805861..85807546,2	MCF-7	breast:
4	chr3:85801276..85804011-chr3:85805861..85807546,2	MCF-7	breast:

Extended variants
information (count: 949 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11705717	chr3:85789007-85789008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113166216	chr3:85789045-85789046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187982141	chr3:85789046-85789047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192407275	chr3:85789049-85789050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576655588	chr3:85789066-85789067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184282376	chr3:85789090-85789091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116085846	chr3:85789177-85789178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574577585	chr3:85789187-85789188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541730024	chr3:85789201-85789202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560031971	chr3:85789206-85789207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571692157	chr3:85789208-85789209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372992645	chr3:85789213-85789214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545424074	chr3:85789262-85789263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189579756	chr3:85789279-85789280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531349340	chr3:85789296-85789297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549859149	chr3:85789314-85789315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562097804	chr3:85789343-85789344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554196974	chr3:85789367-85789368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7633564	chr3:85789406-85789407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577269851	chr3:85789420-85789421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546149159	chr3:85789422-85789423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529515145	chr3:85789439-85789440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548091044	chr3:85789449-85789450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181263069	chr3:85789497-85789498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562755469	chr3:85789525-85789526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113933031	chr3:85789541-85789542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551838928	chr3:85789543-85789544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570039583	chr3:85789586-85789587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7633756	chr3:85789625-85789626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537103128	chr3:85789634-85789635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555851849	chr3:85789638-85789639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7623480	chr3:85789644-85789645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs28720082	chr3:85789674-85789675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562006862	chr3:85789680-85789681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184686031	chr3:85789681-85789682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572057565	chr3:85789701-85789702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11425226	chr3:85789703-85789704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398106124	chr3:85789710-85789711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28391759	chr3:85789731-85789732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565670082	chr3:85789733-85789734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575994441	chr3:85789734-85789735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543125629	chr3:85789751-85789752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561853402	chr3:85789773-85789774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529441463	chr3:85789782-85789783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548054717	chr3:85789787-85789788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7612213	chr3:85789854-85789855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs80106804	chr3:85789902-85789903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76384372	chr3:85789903-85789904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552105287	chr3:85789922-85789923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569922653	chr3:85789932-85789933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85784800-85793800	Weak transcription	Psoas Muscle	Psoas
2	chr3:85787200-85789200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:85789000-85789600	Enhancers	Brain Anterior Caudate	brain
4	chr3:85789200-85790200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:85789400-85789600	Enhancers	Brain Angular Gyrus	brain
6	chr3:85790200-85795200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:85791000-85792800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr3:85791200-85791600	Enhancers	Brain Angular Gyrus	brain
9	chr3:85791800-85792200	Enhancers	Brain Angular Gyrus	brain
10	chr3:85792000-85792600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:85792200-85793000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:85793800-85794000	Enhancers	Psoas Muscle	Psoas
13	chr3:85795800-85796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:85796200-85799800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:85799800-85800000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:85801200-85815000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:85804800-85805000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:85804800-85805600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:85805000-85810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:85807200-85807600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr3:85807200-85808000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:85807200-85808000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:85808000-85809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:85809600-85809800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:85810200-85810400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:85810200-85810400	Enhancers	Psoas Muscle	Psoas
27	chr3:85810400-85811400	Weak transcription	Psoas Muscle	Psoas
28	chr3:85812600-85813000	Enhancers	Brain Anterior Caudate	brain
29	chr3:85812600-85813000	Enhancers	Brain Hippocampus Middle	brain
30	chr3:85812800-85813200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:85812800-85814000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:85813000-85813200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:85813400-85814000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:85813400-85814200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:85813400-85814400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:85813800-85814400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:85814000-85815000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:85814000-85815200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:85814200-85814600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:85814400-85814800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:85814400-85815000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:85814600-85815200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:85814800-85815400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:85815000-85815200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:85815000-85815200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:85815000-85815200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:85815000-85815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:85815200-85815400	Enhancers	HUES48 Cell Line	embryonic stem cell

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