Variant report

Variant	nsv590929
Chromosome Location	chr3:89392778-89418262
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	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:

Extended variants
information (count: 939 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:939 , 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	rs9832305	chr3:89392778-89392779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570149943	chr3:89392862-89392863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560755335	chr3:89392919-89392920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537610429	chr3:89392950-89392951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544049706	chr3:89392957-89392958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569102759	chr3:89392983-89392984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567930527	chr3:89392987-89392988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535044694	chr3:89393017-89393018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115024934	chr3:89393022-89393023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578084453	chr3:89393032-89393033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538760002	chr3:89393092-89393093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116743805	chr3:89393093-89393094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58029174	chr3:89393103-89393104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151235609	chr3:89393168-89393169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35981897	chr3:89393172-89393173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371350635	chr3:89393190-89393191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577185455	chr3:89393193-89393194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140450173	chr3:89393195-89393196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56264927	chr3:89393204-89393205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539880666	chr3:89393208-89393209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184664993	chr3:89393209-89393210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62275011	chr3:89393323-89393324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532080983	chr3:89393360-89393361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532038618	chr3:89393420-89393421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79998606	chr3:89393431-89393432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190123024	chr3:89393435-89393436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115241604	chr3:89393437-89393438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559794319	chr3:89393452-89393453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549576252	chr3:89393462-89393463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114199617	chr3:89393537-89393538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373299624	chr3:89393547-89393548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528793783	chr3:89393584-89393585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547268998	chr3:89393598-89393599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571560720	chr3:89393630-89393631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534629016	chr3:89393765-89393766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538991560	chr3:89393774-89393775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548451005	chr3:89393791-89393792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140957308	chr3:89393813-89393814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368788045	chr3:89393834-89393835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78587293	chr3:89393870-89393871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150420354	chr3:89393880-89393881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542447797	chr3:89393916-89393917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569314706	chr3:89393948-89393949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536079142	chr3:89393960-89393961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114953648	chr3:89393985-89393986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572846743	chr3:89394001-89394002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147699463	chr3:89394017-89394018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142464360	chr3:89394018-89394019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558773817	chr3:89394019-89394020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568497220	chr3:89394049-89394050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89386800-89393200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:89390400-89394000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:89391000-89394400	Weak transcription	Fetal Brain Female	brain
4	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:89393200-89394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:89394400-89394600	Enhancers	Fetal Brain Female	brain
7	chr3:89400200-89401000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:89400200-89401000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:89400600-89401000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:89401000-89401200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:89401000-89401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:89402200-89403200	Enhancers	Hela-S3	cervix
13	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
14	chr3:89407400-89407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:89407800-89409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:89409000-89409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:89409200-89409400	Enhancers	Fetal Lung	lung
18	chr3:89409200-89409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:89409200-89409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:89409200-89409800	Enhancers	Hela-S3	cervix
21	chr3:89409200-89410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:89409400-89409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:89409400-89410000	Enhancers	NHDF-Ad	bronchial
24	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
25	chr3:89409600-89410000	Enhancers	NH-A	brain
26	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
28	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
30	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
31	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
32	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
35	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
36	chr3:89413400-89413800	Enhancers	Ovary	ovary
37	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
39	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:89418000-89421000	Weak transcription	Brain Germinal Matrix	brain

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