Variant report

Variant	nsv1020335
Chromosome Location	chr8:3692864-3796281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:

Extended variants
information (count: 2490 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:2490 , 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	rs148097519	chr8:3694402-3694403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114989898	chr8:3694405-3694406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551984360	chr8:3694407-3694408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568021269	chr8:3694461-3694462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12542886	chr8:3694484-3694485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537439509	chr8:3694493-3694494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141881522	chr8:3694513-3694514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368780258	chr8:3694518-3694519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185015118	chr8:3694529-3694530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571877579	chr8:3694537-3694538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545665799	chr8:3694556-3694557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12542348	chr8:3694575-3694576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576457937	chr8:3694578-3694579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12545154	chr8:3694596-3694597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562021456	chr8:3694603-3694604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560613478	chr8:3694607-3694608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188729382	chr8:3694609-3694610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150646997	chr8:3694617-3694618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10503218	chr8:3694624-3694625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375687684	chr8:3694626-3694627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533593693	chr8:3694636-3694637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9314506	chr8:3694644-3694645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs116248950	chr8:3694665-3694666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34295269	chr8:3694674-3694675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376679615	chr8:3694684-3694685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201802658	chr8:3694685-3694686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138643690	chr8:3694694-3694695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73506765	chr8:3694700-3694701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183776759	chr8:3694719-3694720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535379516	chr8:3694726-3694727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78613611	chr8:3694739-3694740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189306508	chr8:3694758-3694759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557659854	chr8:3694776-3694777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10156289	chr8:3694795-3694796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570292933	chr8:3694797-3694798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10156311	chr8:3694798-3694799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562957995	chr8:3694802-3694803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12542916	chr8:3694817-3694818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560134368	chr8:3694836-3694837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578178894	chr8:3694863-3694864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545591525	chr8:3694865-3694866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182050704	chr8:3694868-3694869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186740543	chr8:3694869-3694870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549434142	chr8:3694878-3694879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12543497	chr8:3694914-3694915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs35609279	chr8:3694915-3694916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77972051	chr8:3694921-3694922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191987014	chr8:3694946-3694947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75012028	chr8:3694951-3694952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181792748	chr8:3694954-3694955	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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:3700000-3701600	Enhancers	Fetal Intestine Small	intestine
6	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
7	chr8:3705200-3705400	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:3705200-3709200	Enhancers	Fetal Intestine Large	intestine
9	chr8:3705400-3706600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:3705600-3706200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr8:3705600-3706600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:3705600-3706800	Enhancers	Liver	Liver
13	chr8:3705600-3707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:3706000-3706200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr8:3706600-3706800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:3706600-3707000	Active TSS	Duodenum Mucosa	Duodenum
17	chr8:3706800-3707000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr8:3707000-3708000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:3707400-3707600	Enhancers	Colonic Mucosa	Colon
20	chr8:3716600-3716800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:3716800-3717400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:3717000-3718000	Enhancers	Fetal Intestine Small	intestine
23	chr8:3717000-3720000	Enhancers	Fetal Intestine Large	intestine
24	chr8:3717400-3717600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:3717600-3718400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:3718000-3718400	Weak transcription	Fetal Intestine Small	intestine
27	chr8:3718000-3718400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:3718200-3719000	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:3718400-3718800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:3718400-3720000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:3718400-3720400	Enhancers	Fetal Intestine Small	intestine
32	chr8:3718800-3719600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr8:3725400-3725800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:3725800-3726600	Enhancers	Fetal Muscle Leg	muscle
35	chr8:3729600-3730000	Enhancers	Fetal Brain Male	brain
36	chr8:3734800-3736000	Enhancers	Fetal Intestine Small	intestine
37	chr8:3734800-3737400	Enhancers	Fetal Intestine Large	intestine
38	chr8:3736000-3736400	Weak transcription	Fetal Intestine Small	intestine
39	chr8:3736400-3737200	Enhancers	Fetal Intestine Small	intestine
40	chr8:3745800-3746200	Enhancers	Brain Substantia Nigra	brain
41	chr8:3745800-3746200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr8:3745800-3746400	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:3746000-3746200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:3746000-3746200	Enhancers	Brain Angular Gyrus	brain
45	chr8:3751000-3751600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:3751200-3751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:3751200-3751600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:3751200-3751800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:3751400-3751600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:3755400-3755800	Active TSS	Lung	lung

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