Variant report

Variant	nsv889899
Chromosome Location	chr8:3394470-3423848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3142221..3142747-chr8:3393835..3394631,2	MCF-7	breast:
2	chr8:2675575..2676101-chr8:3394089..3394683,2	MCF-7	breast:
3	chr8:3141218..3141916-chr8:3393869..3394656,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183117	chromatin interactions

Extended variants
information (count: 1633 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:1633 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6988212	chr8:3394470-3394471	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189530193	chr8:3394475-3394476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181514143	chr8:3394483-3394484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532737592	chr8:3394485-3394486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6987097	chr8:3394486-3394487	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554930209	chr8:3394492-3394493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548948730	chr8:3394501-3394502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573445568	chr8:3394504-3394505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540726031	chr8:3394533-3394534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199765106	chr8:3394536-3394537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146997295	chr8:3394568-3394569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560084795	chr8:3394569-3394570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538727637	chr8:3394575-3394576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577724847	chr8:3394590-3394591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545305285	chr8:3394603-3394604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373102042	chr8:3394605-3394606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528742434	chr8:3394611-3394612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148036012	chr8:3394617-3394618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530804170	chr8:3394638-3394639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571960266	chr8:3394672-3394673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549439437	chr8:3394686-3394687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547092441	chr8:3394697-3394698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561262962	chr8:3394702-3394703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184450378	chr8:3394724-3394725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546735401	chr8:3394729-3394730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7008318	chr8:3394737-3394738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6988699	chr8:3394746-3394747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150440941	chr8:3394761-3394762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569480557	chr8:3394772-3394773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189206123	chr8:3394783-3394784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554994251	chr8:3394811-3394812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535990088	chr8:3394812-3394813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138199634	chr8:3394821-3394822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552759909	chr8:3394822-3394823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113169744	chr8:3394825-3394826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569553455	chr8:3394840-3394841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577789935	chr8:3394849-3394850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538441155	chr8:3394862-3394863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557109190	chr8:3394870-3394871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371326502	chr8:3394888-3394889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575657066	chr8:3394898-3394899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542894776	chr8:3394907-3394908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558281228	chr8:3394910-3394911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561275155	chr8:3394936-3394937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114435426	chr8:3394941-3394942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540741035	chr8:3394947-3394948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565261365	chr8:3394949-3394950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572262843	chr8:3394974-3394975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181227829	chr8:3394998-3394999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374508288	chr8:3395000-3395001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3394200-3395800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3394400-3396400	Weak transcription	Brain Substantia Nigra	brain
3	chr8:3394400-3396600	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:3395600-3396200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:3395800-3397200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:3396200-3397600	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:3396400-3397200	Enhancers	Brain Substantia Nigra	brain
8	chr8:3396600-3397000	Enhancers	Brain Hippocampus Middle	brain
9	chr8:3397000-3397200	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr8:3397200-3397600	Active TSS	Brain Hippocampus Middle	brain
11	chr8:3397200-3397600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:3397200-3397800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:3397400-3397800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:3397400-3398000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:3397600-3397800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr8:3397600-3398000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:3397600-3401200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:3397800-3398000	Enhancers	Brain Hippocampus Middle	brain
19	chr8:3400000-3400200	Enhancers	Pancreas	Pancrea
20	chr8:3400000-3400600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:3406000-3406400	Weak transcription	Spleen	Spleen
22	chr8:3406400-3406800	ZNF genes & repeats	Spleen	Spleen
23	chr8:3408000-3408400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:3408200-3408400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:3408200-3408400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:3408200-3409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:3408200-3410200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:3408400-3409800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:3408400-3411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:3408400-3412000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:3409000-3409400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:3409200-3409400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:3409400-3410000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:3409400-3410200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:3409400-3410200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:3409400-3410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:3409400-3410200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:3409400-3410200	Enhancers	Liver	Liver
39	chr8:3409400-3410200	Enhancers	Fetal Lung	lung
40	chr8:3409600-3410200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:3409800-3410200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:3410000-3410200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr8:3410000-3412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:3410200-3411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:3410200-3411600	Weak transcription	Liver	Liver
46	chr8:3410200-3412000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:3410200-3412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:3411600-3412800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:3411600-3412800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:3411600-3413000	Enhancers	Liver	Liver

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