Variant report

Variant	nsv1007612
Chromosome Location	chr3:110296571-110310664
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	chr3:110302646..110303511-chr3:110658446..110659012,2	MCF-7	breast:

Extended variants
information (count: 554 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372041295	chr3:110296638-110296639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5851721	chr3:110296645-110296646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563544651	chr3:110296658-110296659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529158167	chr3:110296659-110296660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116732961	chr3:110296718-110296719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1858429	chr3:110296731-110296732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368737860	chr3:110296771-110296772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34068781	chr3:110296871-110296872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201866023	chr3:110296875-110296876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528341713	chr3:110296903-110296904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374545178	chr3:110296913-110296914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544945021	chr3:110296991-110296992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547527530	chr3:110297038-110297039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7634957	chr3:110297043-110297044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142810112	chr3:110297049-110297050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530007563	chr3:110297097-110297098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188377518	chr3:110297172-110297173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192838821	chr3:110297188-110297189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114818951	chr3:110297213-110297214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111659421	chr3:110297222-110297223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552493080	chr3:110297261-110297262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145707024	chr3:110297286-110297287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138304770	chr3:110297298-110297299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373112582	chr3:110297324-110297325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140952878	chr3:110297404-110297405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574493529	chr3:110297411-110297412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536772462	chr3:110297414-110297415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150192984	chr3:110297463-110297464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576952507	chr3:110297603-110297604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546115579	chr3:110297639-110297640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373013284	chr3:110297758-110297759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76132610	chr3:110297799-110297800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542376382	chr3:110297842-110297843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138977378	chr3:110297848-110297849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372746099	chr3:110297849-110297850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184728480	chr3:110297875-110297876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6793227	chr3:110297878-110297879	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113810284	chr3:110297913-110297914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543544639	chr3:110297927-110297928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563333991	chr3:110297942-110297943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532419701	chr3:110298014-110298015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188460826	chr3:110298018-110298019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75071079	chr3:110298036-110298037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528645435	chr3:110298052-110298053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548739776	chr3:110298086-110298087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542571224	chr3:110298103-110298104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199932815	chr3:110298111-110298112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149433447	chr3:110298149-110298150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537137990	chr3:110298201-110298202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147524333	chr3:110298209-110298210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110293400-110301600	Weak transcription	Dnd41	blood
2	chr3:110294400-110298600	Enhancers	NHDF-Ad	bronchial
3	chr3:110294600-110297200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:110294600-110299000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:110294600-110299400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:110294600-110299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:110294800-110297400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:110294800-110297400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:110294800-110297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:110294800-110299400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:110295400-110296600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:110295400-110296600	Enhancers	HUVEC	blood vessel
13	chr3:110295400-110297000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:110295400-110297200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:110295400-110297200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:110295400-110297400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:110295400-110297400	Enhancers	Osteobl	bone
18	chr3:110295400-110299400	Enhancers	HSMM	muscle
19	chr3:110295600-110296600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:110295600-110296800	Enhancers	NH-A	brain
21	chr3:110295600-110297000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:110295800-110296600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:110295800-110296800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:110295800-110297000	Enhancers	NHEK	skin
25	chr3:110295800-110297600	Enhancers	NHLF	lung
26	chr3:110296000-110296600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:110296000-110296600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:110296000-110296600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr3:110296000-110296600	Enhancers	Pancreas	Pancrea
30	chr3:110296000-110296600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:110296000-110296600	Enhancers	HMEC	breast
32	chr3:110296000-110297000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:110296000-110297200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:110296000-110297200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:110296000-110299400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:110296200-110297200	Enhancers	A549	lung
37	chr3:110296200-110298400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:110296400-110296600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:110296400-110296800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr3:110296400-110297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:110296400-110297800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:110296400-110299400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:110296600-110297600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:110296600-110297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:110296600-110298200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:110296600-110298600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:110296600-110298600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:110296600-110298800	Weak transcription	HMEC	breast
49	chr3:110296800-110297200	Weak transcription	NH-A	brain
50	chr3:110296800-110301600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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