Variant report

Variant	nsv539374
Chromosome Location	chr8:3979200-4033089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:

Extended variants
information (count: 2751 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:2751 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549246465	chr8:3980000-3980001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12549072	chr8:3980013-3980014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs386721218	chr8:3980026-3980027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147545188	chr8:3980028-3980029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577590150	chr8:3980033-3980034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576868240	chr8:3980042-3980043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10088528	chr8:3980047-3980048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373153732	chr8:3980060-3980061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575021760	chr8:3980061-3980062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372016344	chr8:3980072-3980073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186485926	chr8:3980085-3980086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561184295	chr8:3980100-3980101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12056681	chr8:3980106-3980107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540573473	chr8:3980108-3980109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139852534	chr8:3980111-3980112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs118170405	chr8:3980137-3980138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550985384	chr8:3980140-3980141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62503581	chr8:3980143-3980144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530259861	chr8:3980154-3980155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10088637	chr8:3980158-3980159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567472231	chr8:3980176-3980177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368862246	chr8:3980178-3980179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561873755	chr8:3980183-3980184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374169562	chr8:3980208-3980209	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556935415	chr8:3980216-3980217	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546595860	chr8:3980230-3980231	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190983047	chr8:3980237-3980238	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544395407	chr8:3980255-3980256	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368346178	chr8:3980277-3980278	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538536373	chr8:3980287-3980288	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541714300	chr8:3980315-3980316	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7816211	chr8:3980317-3980318	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533452005	chr8:3980324-3980325	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147691632	chr8:3980337-3980338	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535949112	chr8:3980354-3980355	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554194233	chr8:3980357-3980358	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573123049	chr8:3980363-3980364	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75144718	chr8:3980365-3980366	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558867066	chr8:3980388-3980389	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139786482	chr8:3980391-3980392	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544570125	chr8:3980404-3980405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560085193	chr8:3980425-3980426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562880345	chr8:3980466-3980467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530070291	chr8:3980476-3980477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371333079	chr8:3980487-3980488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560538991	chr8:3980494-3980495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527770588	chr8:3980512-3980513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546803597	chr8:3980513-3980514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149711337	chr8:3980530-3980531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532475395	chr8:3980532-3980533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3980000-3980200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:3980200-3980400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:3980400-3980600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:3980400-3981600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:3980600-3981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:3980600-3983200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:3981200-3981400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:3981400-3983400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:3981600-3981800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:3981600-3982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:3981600-3984400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:3981600-3984400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:3981600-3984600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:3981800-3982000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:3981800-3982200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr8:3981800-3984400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:3981800-3984600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:3981800-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:3982000-3983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:3982000-3984600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:3982200-3984400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:3982800-3984400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:3983000-3984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:3983200-3983400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:3983200-3983600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:3983200-3983600	Enhancers	Fetal Kidney	kidney
27	chr8:3983400-3983800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:3983600-3984000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:3983800-3984200	Enhancers	Pancreas	Pancrea
30	chr8:3983800-3984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:3984400-3985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:3984600-3985600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:3985400-3985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:3985600-3985800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:3993800-3994800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:3993800-3994800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:3994000-3994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:3994000-3994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:3994000-3994800	Enhancers	Brain Germinal Matrix	brain
40	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
47	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle

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