Variant report

Variant	nsv4038
Chromosome Location	chr3:140536961-140579494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140560323..140562507-chr3:140565228..140567400,2	MCF-7	breast:
2	chr3:140560323..140562507-chr3:140565228..140567400,2	MCF-7	breast:
3	chr3:140554185..140556969-chr3:140557455..140559405,2	MCF-7	breast:
4	chr3:140567340..140568277-chrX:19340677..19341645,2	MCF-7	breast:
5	chr3:140554185..140556969-chr3:140557455..140559405,2	MCF-7	breast:

Extended variants
information (count: 1466 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531573612	chr3:140536985-140536986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574749706	chr3:140536991-140536992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549788313	chr3:140536997-140536998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199804925	chr3:140537014-140537015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568705929	chr3:140537031-140537032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528712187	chr3:140537052-140537053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149133259	chr3:140537085-140537086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188828357	chr3:140537091-140537092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57856444	chr3:140537105-140537106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375762362	chr3:140537141-140537142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181839276	chr3:140537164-140537165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537593828	chr3:140537177-140537178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558671033	chr3:140537336-140537337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57782376	chr3:140537390-140537391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537807343	chr3:140537415-140537416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113362412	chr3:140537459-140537460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574626839	chr3:140537490-140537491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541754289	chr3:140537504-140537505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113867926	chr3:140537507-140537508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398062859	chr3:140537517-140537518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113542178	chr3:140537599-140537600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149451171	chr3:140537603-140537604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55869551	chr3:140537607-140537608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61406424	chr3:140537617-140537618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115847038	chr3:140537628-140537629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13089943	chr3:140537639-140537640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545619085	chr3:140537647-140537648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76144048	chr3:140537659-140537660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11711439	chr3:140537685-140537686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs543374618	chr3:140537731-140537732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146988896	chr3:140537735-140537736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570117902	chr3:140537736-140537737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547764015	chr3:140537754-140537755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566397964	chr3:140537766-140537767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533543395	chr3:140537768-140537769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56331011	chr3:140537786-140537787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570520440	chr3:140537787-140537788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186537618	chr3:140537846-140537847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572775175	chr3:140537899-140537900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138078774	chr3:140537906-140537907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73233070	chr3:140537952-140537953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116321944	chr3:140537985-140537986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72987179	chr3:140538000-140538001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572027406	chr3:140538001-140538002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545562074	chr3:140538046-140538047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35907764	chr3:140538101-140538102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575334889	chr3:140538123-140538124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544338476	chr3:140538151-140538152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557543048	chr3:140538204-140538205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576083503	chr3:140538269-140538270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140535800-140540800	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:140536000-140541400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:140539000-140539200	Enhancers	HSMMtube	muscle
4	chr3:140539200-140539800	Weak transcription	HSMMtube	muscle
5	chr3:140539800-140542600	Enhancers	HSMMtube	muscle
6	chr3:140540200-140540800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:140540200-140540800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:140540200-140542600	Enhancers	HepG2	liver
9	chr3:140540600-140541600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:140540800-140541800	Enhancers	Fetal Muscle Leg	muscle
11	chr3:140541000-140541800	Enhancers	Fetal Thymus	thymus
12	chr3:140541000-140542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:140541000-140542400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:140541000-140542400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:140541200-140542600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:140541400-140542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:140541400-140542200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:140541400-140542400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:140541400-140542400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:140541400-140542600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:140541400-140542600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:140541600-140542000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:140541800-140542200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:140542000-140542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:140542000-140551400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:140542200-140542600	Enhancers	Lung	lung
27	chr3:140542600-140543600	Weak transcription	HepG2	liver
28	chr3:140542800-140546400	Weak transcription	HSMMtube	muscle
29	chr3:140543600-140544200	Enhancers	HepG2	liver
30	chr3:140544200-140547000	Weak transcription	HepG2	liver
31	chr3:140546400-140547200	Enhancers	HSMMtube	muscle
32	chr3:140547000-140548400	Enhancers	HepG2	liver
33	chr3:140547200-140547400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr3:140549000-140550000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:140549200-140549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:140549600-140551200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:140550000-140550400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:140550400-140554400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr3:140550600-140551600	Enhancers	Primary T cells from cord blood	blood
40	chr3:140551200-140552400	Enhancers	Primary B cells from peripheral blood	blood
41	chr3:140551200-140552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:140551200-140553600	Enhancers	Fetal Thymus	thymus
43	chr3:140551400-140552200	Enhancers	GM12878-XiMat	blood
44	chr3:140551400-140552400	Enhancers	Primary B cells from cord blood	blood
45	chr3:140551400-140552400	Enhancers	Primary hematopoietic stem cells	blood
46	chr3:140551400-140552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:140551600-140552000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr3:140551600-140552000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:140551600-140552600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:140552000-140552200	Enhancers	Primary T cells from cord blood	blood

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