Variant report

Variant	nsv609749
Chromosome Location	chr8:3624046-3660565
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	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:

Extended variants
information (count: 2081 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:2081 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12678875	chr8:3624046-3624047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371505446	chr8:3624052-3624053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188063203	chr8:3624054-3624055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576261692	chr8:3624059-3624060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552900745	chr8:3624061-3624062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546614282	chr8:3624063-3624064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578010930	chr8:3624065-3624066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192872639	chr8:3624067-3624068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183780855	chr8:3624074-3624075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1871819	chr8:3624075-3624076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542893034	chr8:3624086-3624087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150316538	chr8:3624087-3624088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372726222	chr8:3624097-3624098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547131953	chr8:3624117-3624118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188470507	chr8:3624136-3624137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533020883	chr8:3624143-3624144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192830741	chr8:3624153-3624154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369444079	chr8:3624161-3624162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545224725	chr8:3624195-3624196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537088175	chr8:3624196-3624197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371083657	chr8:3624232-3624233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567525321	chr8:3624237-3624238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534615574	chr8:3624286-3624287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183992956	chr8:3624293-3624294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373623195	chr8:3624296-3624297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117744678	chr8:3624304-3624305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549164149	chr8:3624305-3624306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188139865	chr8:3624308-3624309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557060726	chr8:3624315-3624316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527800392	chr8:3624355-3624356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62479694	chr8:3624370-3624371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560958060	chr8:3624378-3624379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573438621	chr8:3624396-3624397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184634919	chr8:3624397-3624398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565445826	chr8:3624407-3624408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532621105	chr8:3624409-3624410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1871818	chr8:3624412-3624413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs137898322	chr8:3624415-3624416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190738356	chr8:3624416-3624417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548951911	chr8:3624422-3624423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140790262	chr8:3624426-3624427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534882682	chr8:3624429-3624430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546612292	chr8:3624430-3624431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77040314	chr8:3624437-3624438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538505525	chr8:3624438-3624439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557027528	chr8:3624442-3624443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374968350	chr8:3624457-3624458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182203777	chr8:3624460-3624461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186831600	chr8:3624463-3624464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144929770	chr8:3624474-3624475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3618200-3624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3621800-3624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:3623200-3624600	Enhancers	Fetal Muscle Trunk	muscle
4	chr8:3623200-3625000	Enhancers	Fetal Muscle Leg	muscle
5	chr8:3624400-3624600	Enhancers	Brain Germinal Matrix	brain
6	chr8:3624400-3625000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:3624400-3625000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr8:3624600-3624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:3624600-3625000	Enhancers	Brain Anterior Caudate	brain
10	chr8:3624600-3625000	Active TSS	Brain Cingulate Gyrus	brain
11	chr8:3624600-3625000	Enhancers	Fetal Brain Male	brain
12	chr8:3624600-3625000	Enhancers	Fetal Lung	lung
13	chr8:3624600-3625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:3624800-3625200	Enhancers	Brain Substantia Nigra	brain
15	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
16	chr8:3626200-3626800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:3626200-3626800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:3626200-3626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:3631200-3631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:3631200-3631600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:3631200-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:3631400-3631800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:3631400-3631800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:3631400-3631800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:3631400-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:3631600-3631800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:3631600-3635000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:3631800-3632200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:3632000-3633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:3632000-3633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:3633200-3634400	Enhancers	HMEC	breast
35	chr8:3633400-3633800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:3633400-3634000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:3633400-3634200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:3633400-3634600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:3633600-3634200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:3633800-3635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:3635000-3635200	Enhancers	Brain Hippocampus Middle	brain
42	chr8:3635000-3635800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:3635200-3635800	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:3635200-3636600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:3635400-3636600	Enhancers	Fetal Intestine Small	intestine
46	chr8:3635400-3636600	Enhancers	Fetal Muscle Leg	muscle
47	chr8:3635600-3642600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:3635800-3636000	Enhancers	Brain Anterior Caudate	brain
49	chr8:3635800-3636000	Enhancers	Brain Hippocampus Middle	brain
50	chr8:3635800-3641000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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