Variant report

Variant	nsv1029621
Chromosome Location	chr8:4312587-4395866
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..4336694,3	K562	blood:
2	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:

Extended variants
information (count: 2711 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2711 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190446587	chr8:4312589-4312590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529671414	chr8:4312605-4312606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182703707	chr8:4312628-4312629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78177994	chr8:4312629-4312630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187833137	chr8:4312634-4312635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552548021	chr8:4312640-4312641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571034489	chr8:4312643-4312644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550686684	chr8:4312644-4312645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538432710	chr8:4312646-4312647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35884056	chr8:4312662-4312663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201746321	chr8:4312665-4312666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574963514	chr8:4312667-4312668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62481020	chr8:4312671-4312672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192754019	chr8:4312674-4312675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377878	chr8:4312677-4312678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs434803	chr8:4312679-4312680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62481021	chr8:4312685-4312686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554152056	chr8:4312687-4312688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142118819	chr8:4312702-4312703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540522333	chr8:4312704-4312705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558529193	chr8:4312716-4312717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200438952	chr8:4312720-4312721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75704919	chr8:4312723-4312724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375425989	chr8:4312724-4312725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576666841	chr8:4312738-4312739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149720948	chr8:4312751-4312752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562279882	chr8:4312760-4312761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567198734	chr8:4312764-4312765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529757320	chr8:4312771-4312772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541532256	chr8:4312775-4312776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74574573	chr8:4312777-4312778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527253091	chr8:4312788-4312789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77104677	chr8:4312791-4312792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145613880	chr8:4312802-4312803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62481022	chr8:4312808-4312809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544791847	chr8:4312812-4312813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148915075	chr8:4312854-4312855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568632227	chr8:4312879-4312880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535967244	chr8:4312880-4312881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553929847	chr8:4312884-4312885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566074300	chr8:4312887-4312888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62481023	chr8:4312888-4312889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377748241	chr8:4312892-4312893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558842052	chr8:4312904-4312905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576711989	chr8:4312921-4312922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576970739	chr8:4312924-4312925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182717421	chr8:4312931-4312932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555962693	chr8:4312946-4312947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143433781	chr8:4312958-4312959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541920948	chr8:4312967-4312968	Enhancers	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4312400-4313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:4315400-4316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:4316400-4317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:4324400-4325000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:4325600-4325800	Enhancers	Gastric	stomach
7	chr8:4325800-4329000	Weak transcription	Gastric	stomach
8	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
10	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
15	chr8:4347000-4347400	Enhancers	Gastric	stomach
16	chr8:4352800-4354200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:4353400-4353800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:4353400-4355000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:4353400-4355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:4353600-4353800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:4353600-4354400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:4353600-4354400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:4353800-4354000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:4353800-4354000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:4353800-4354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:4353800-4354400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:4353800-4354600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:4354000-4354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:4354000-4354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:4354000-4355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:4354200-4354400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:4354200-4355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:4354400-4355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:4355400-4355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:4364800-4365400	Enhancers	Fetal Heart	heart
36	chr8:4365400-4366400	Weak transcription	Fetal Heart	heart
37	chr8:4366400-4369000	Enhancers	Fetal Heart	heart
38	chr8:4367000-4367200	Enhancers	Right Atrium	heart
39	chr8:4367200-4374000	Weak transcription	Right Atrium	heart
40	chr8:4369000-4369400	Enhancers	Fetal Lung	lung
41	chr8:4369000-4369600	Flanking Active TSS	Fetal Heart	heart
42	chr8:4369400-4374600	Weak transcription	Fetal Lung	lung
43	chr8:4369600-4370600	Active TSS	Fetal Heart	heart
44	chr8:4370600-4370800	Weak transcription	Fetal Heart	heart
45	chr8:4370800-4375600	Enhancers	Fetal Heart	heart
46	chr8:4372000-4372200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:4372200-4373800	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:4372200-4375400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:4372400-4373000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:4372400-4373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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