Variant report

Variant	nsv1020202
Chromosome Location	chr8:4314693-4383871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
2	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:

Extended variants
information (count: 2451 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2451 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149385927	chr8:4315418-4315419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553825123	chr8:4315433-4315434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570738280	chr8:4315445-4315446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552125613	chr8:4315457-4315458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184030819	chr8:4315471-4315472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115006390	chr8:4315485-4315486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76887515	chr8:4315496-4315497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544064323	chr8:4315506-4315507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562146762	chr8:4315512-4315513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1217679	chr8:4315523-4315524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188385780	chr8:4315525-4315526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1217678	chr8:4315529-4315530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78338715	chr8:4315541-4315542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193025453	chr8:4315551-4315552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374652960	chr8:4315556-4315557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79316211	chr8:4315559-4315560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183059525	chr8:4315560-4315561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550011321	chr8:4315567-4315568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142057480	chr8:4315577-4315578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547963376	chr8:4315580-4315581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368748398	chr8:4315601-4315602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543072711	chr8:4315611-4315612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375669221	chr8:4315613-4315614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553934266	chr8:4315636-4315637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565763002	chr8:4315637-4315638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539504438	chr8:4315638-4315639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144231761	chr8:4315641-4315642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557808017	chr8:4315642-4315643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187053927	chr8:4315645-4315646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191692173	chr8:4315651-4315652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183950124	chr8:4315655-4315656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574181389	chr8:4315657-4315658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541597320	chr8:4315663-4315664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559488138	chr8:4315673-4315674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535513862	chr8:4315692-4315693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545055145	chr8:4315693-4315694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563352608	chr8:4315694-4315695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78332238	chr8:4315704-4315705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368708627	chr8:4315708-4315709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568321182	chr8:4315734-4315735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12675730	chr8:4315739-4315740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547626375	chr8:4315753-4315754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148448323	chr8:4315775-4315776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539540460	chr8:4315777-4315778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75539606	chr8:4315782-4315783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568526704	chr8:4315802-4315803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534871826	chr8:4315804-4315805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546013993	chr8:4315817-4315818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537417994	chr8:4315819-4315820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34560375	chr8:4315820-4315821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4315400-4316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4316400-4317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:4324400-4325000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4325600-4325800	Enhancers	Gastric	stomach
6	chr8:4325800-4329000	Weak transcription	Gastric	stomach
7	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
9	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
14	chr8:4347000-4347400	Enhancers	Gastric	stomach
15	chr8:4352800-4354200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:4353400-4353800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:4353400-4355000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:4353400-4355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:4353600-4353800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:4353600-4354400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:4353600-4354400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:4353800-4354000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:4353800-4354000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:4353800-4354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:4353800-4354400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:4353800-4354600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:4354000-4354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:4354000-4354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:4354000-4355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:4354200-4354400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:4354200-4355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:4354400-4355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:4355400-4355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:4364800-4365400	Enhancers	Fetal Heart	heart
35	chr8:4365400-4366400	Weak transcription	Fetal Heart	heart
36	chr8:4366400-4369000	Enhancers	Fetal Heart	heart
37	chr8:4367000-4367200	Enhancers	Right Atrium	heart
38	chr8:4367200-4374000	Weak transcription	Right Atrium	heart
39	chr8:4369000-4369400	Enhancers	Fetal Lung	lung
40	chr8:4369000-4369600	Flanking Active TSS	Fetal Heart	heart
41	chr8:4369400-4374600	Weak transcription	Fetal Lung	lung
42	chr8:4369600-4370600	Active TSS	Fetal Heart	heart
43	chr8:4370600-4370800	Weak transcription	Fetal Heart	heart
44	chr8:4370800-4375600	Enhancers	Fetal Heart	heart
45	chr8:4372000-4372200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:4372200-4373800	Enhancers	Brain Cingulate Gyrus	brain
47	chr8:4372200-4375400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:4372400-4373000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:4372400-4373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:4372400-4373600	Enhancers	Brain Anterior Caudate	brain

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