Variant report

Variant	nsv525809
Chromosome Location	chr8:4295445-4357525
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..4336694,3	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:

Extended variants
information (count: 2053 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2053 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10088937	chr8:4295445-4295446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528767597	chr8:4295450-4295451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547232264	chr8:4295454-4295455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76484994	chr8:4295465-4295466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183281313	chr8:4295469-4295470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550793431	chr8:4295474-4295475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111655862	chr8:4295477-4295478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188655687	chr8:4295490-4295491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536233868	chr8:4295507-4295508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555660639	chr8:4295509-4295510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150668639	chr8:4295520-4295521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193168555	chr8:4295532-4295533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552754914	chr8:4295539-4295540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554848022	chr8:4295542-4295543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185294510	chr8:4295543-4295544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574660700	chr8:4295555-4295556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577415583	chr8:4295559-4295560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545131620	chr8:4295561-4295562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554840936	chr8:4295566-4295567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575224591	chr8:4295572-4295573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7015052	chr8:4295579-4295580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560834152	chr8:4295586-4295587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76169133	chr8:4295632-4295633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116826233	chr8:4295639-4295640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372348539	chr8:4295645-4295646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190143960	chr8:4295652-4295653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377089052	chr8:4295667-4295668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191936897	chr8:4295679-4295680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143366344	chr8:4295683-4295684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184138915	chr8:4295685-4295686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188316918	chr8:4295707-4295708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577222955	chr8:4295711-4295712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113675543	chr8:4295716-4295717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534650837	chr8:4295720-4295721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552842465	chr8:4295734-4295735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147452291	chr8:4295742-4295743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538435925	chr8:4295752-4295753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557092591	chr8:4295753-4295754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185778617	chr8:4295762-4295763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575261035	chr8:4295785-4295786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190254641	chr8:4295791-4295792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139909561	chr8:4295803-4295804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145364139	chr8:4295815-4295816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371438252	chr8:4295825-4295826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145233318	chr8:4295834-4295835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182323513	chr8:4295847-4295848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528807233	chr8:4295866-4295867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572629865	chr8:4295874-4295875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373782833	chr8:4295890-4295891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541303317	chr8:4295893-4295894	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4295200-4296000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4295400-4296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:4300000-4300400	Enhancers	Fetal Brain Male	brain
4	chr8:4300400-4301400	Weak transcription	Fetal Brain Male	brain
5	chr8:4301400-4301600	Enhancers	Fetal Brain Male	brain
6	chr8:4303200-4303600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:4307000-4307600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:4307200-4307600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:4309200-4310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:4310400-4312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:4310800-4311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:4312400-4313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:4315400-4316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:4316400-4317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:4324400-4325000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:4325600-4325800	Enhancers	Gastric	stomach
18	chr8:4325800-4329000	Weak transcription	Gastric	stomach
19	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
21	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
26	chr8:4347000-4347400	Enhancers	Gastric	stomach
27	chr8:4352800-4354200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:4353400-4353800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:4353400-4355000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:4353400-4355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:4353600-4353800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:4353600-4354400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:4353600-4354400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:4353800-4354000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:4353800-4354000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:4353800-4354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:4353800-4354400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:4353800-4354600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:4354000-4354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:4354000-4354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:4354000-4355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:4354200-4354400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr8:4354200-4355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:4354400-4355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:4355400-4355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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