Variant report

Variant	nsv1020444
Chromosome Location	chr8:3919413-4005116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6760 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:6760 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7015239	chr8:3919413-3919414	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548486300	chr8:3919418-3919419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560472235	chr8:3919421-3919422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139900069	chr8:3919441-3919442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530590306	chr8:3919442-3919443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551924000	chr8:3919443-3919444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570436021	chr8:3919448-3919449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531261253	chr8:3919452-3919453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116130510	chr8:3919456-3919457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535687119	chr8:3919457-3919458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112407385	chr8:3919460-3919461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186261287	chr8:3919480-3919481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4875265	chr8:3919501-3919502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547415358	chr8:3919506-3919507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539439970	chr8:3919514-3919515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2554708	chr8:3919531-3919532	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188676572	chr8:3919550-3919551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112703593	chr8:3919554-3919555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374940273	chr8:3919570-3919571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533505791	chr8:3919581-3919582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74412368	chr8:3919588-3919589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574661022	chr8:3919590-3919591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542089242	chr8:3919591-3919592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181098716	chr8:3919592-3919593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527541669	chr8:3919627-3919628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77722493	chr8:3919651-3919652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149834225	chr8:3919657-3919658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563897491	chr8:3919662-3919663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185731700	chr8:3919663-3919664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145854619	chr8:3919665-3919666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2554707	chr8:3919672-3919673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs529442700	chr8:3919674-3919675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547626713	chr8:3919682-3919683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13253871	chr8:3919688-3919689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372550789	chr8:3919697-3919698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376103771	chr8:3919706-3919707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558447974	chr8:3919707-3919708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549384376	chr8:3919711-3919712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190639575	chr8:3919721-3919722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537478112	chr8:3919734-3919735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562647041	chr8:3919735-3919736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17063225	chr8:3919742-3919743	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182927842	chr8:3919759-3919760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72624076	chr8:3919763-3919764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553960987	chr8:3919771-3919772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2552159	chr8:3919778-3919779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545745289	chr8:3919785-3919786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564438479	chr8:3919796-3919797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149019804	chr8:3919802-3919803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1895889	chr8:3919812-3919813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3909000-3922000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:3918000-3920400	Enhancers	Fetal Heart	heart
3	chr8:3919400-3919800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:3919400-3919800	Enhancers	Liver	Liver
5	chr8:3919400-3919800	Enhancers	Fetal Intestine Small	intestine
6	chr8:3919400-3919800	Enhancers	Pancreas	Pancrea
7	chr8:3919400-3920000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:3919600-3919800	Enhancers	Adipose Nuclei	Adipose
9	chr8:3919800-3922000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:3920000-3923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:3920400-3937000	Weak transcription	Fetal Heart	heart
12	chr8:3921600-3924800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:3922000-3922400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:3922000-3922800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:3922000-3924800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:3922200-3924800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:3922200-3924800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:3922200-3924800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:3922400-3923800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:3922600-3923200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:3922800-3923600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:3922800-3924800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:3923000-3923200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:3923000-3924800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:3923200-3923400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:3923200-3923600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:3923200-3924000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:3923400-3924000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:3923400-3924400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:3923600-3923800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:3923600-3923800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:3923800-3924000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:3923800-3924200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:3923800-3924800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:3924000-3924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:3924000-3924800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:3924200-3924800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:3924400-3924800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:3927000-3927200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:3935000-3935400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:3937000-3937400	Enhancers	Fetal Heart	heart
42	chr8:3938200-3938800	Enhancers	Adipose Nuclei	Adipose
43	chr8:3938400-3938600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:3938600-3942200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:3938800-3939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:3940400-3940600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:3941400-3942200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:3941400-3943000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:3941800-3942200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr8:3942000-3942200	Enhancers	H9 Cell Line	embryonic stem cell

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