Variant report

Variant	nsv437593
Chromosome Location	chr8:4704541-4761765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4724555..4726658-chr8:4730823..4733487,2	K562	blood:
2	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:
3	chr8:4724555..4726658-chr8:4730823..4733487,2	K562	blood:
4	chr8:4695207..4695958-chr8:4732618..4733342,2	MCF-7	breast:

Extended variants
information (count: 776 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11136782	chr8:4704541-4704542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369331126	chr8:4704553-4704554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35775681	chr8:4704554-4704555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77216084	chr8:4704558-4704559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374312812	chr8:4704585-4704586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558379229	chr8:4704604-4704605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547487877	chr8:4704606-4704607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183380073	chr8:4704607-4704608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7820227	chr8:4704683-4704684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187744730	chr8:4704701-4704702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79979134	chr8:4704709-4704710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528483368	chr8:4704726-4704727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546930271	chr8:4704738-4704739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75560535	chr8:4704751-4704752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532606645	chr8:4704759-4704760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117241828	chr8:4704771-4704772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372054626	chr8:4704790-4704791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144473287	chr8:4704796-4704797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192251755	chr8:4704800-4704801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572843585	chr8:4709600-4709601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541957702	chr8:4709613-4709614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369747284	chr8:4709615-4709616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182774375	chr8:4709634-4709635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187138780	chr8:4709636-4709637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141580704	chr8:4709648-4709649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555662152	chr8:4709650-4709651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs575832866	chr8:4709660-4709661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190008822	chr8:4709665-4709666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561046847	chr8:4709690-4709691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150892060	chr8:4709696-4709697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544547422	chr8:4709703-4709704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371814840	chr8:4709714-4709715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182609218	chr8:4709721-4709722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547502816	chr8:4709722-4709723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs187678416	chr8:4709726-4709727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139408918	chr8:4709780-4709781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs145381969	chr8:4709828-4709829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570120030	chr8:4709856-4709857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537666116	chr8:4709863-4709864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76339009	chr8:4709871-4709872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563708615	chr8:4709903-4709904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572603502	chr8:4709908-4709909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535302284	chr8:4709911-4709912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552739241	chr8:4709918-4709919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564770781	chr8:4709919-4709920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577206549	chr8:4709920-4709921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115584736	chr8:4709943-4709944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544561374	chr8:4709972-4709973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs533321869	chr8:4709982-4709983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540620932	chr8:4709985-4709986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Breast cancer	21364760	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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4704200-4704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:4709600-4711400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr8:4709600-4711800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr8:4709800-4710000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr8:4709800-4711400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr8:4709800-4711600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr8:4710800-4711400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr8:4711400-4712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:4711600-4712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:4711800-4712000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:4712000-4712400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:4712000-4712400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:4712000-4712400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:4712000-4712400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:4728400-4728600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:4747800-4748200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:4747800-4748200	ZNF genes & repeats	Pancreas	Pancrea
18	chr8:4747800-4748400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:4747800-4748400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:4748000-4748200	Enhancers	Esophagus	oesophagus
21	chr8:4748000-4748600	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:4749600-4751400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:4749800-4751600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:4750600-4751600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:4751000-4751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:4751400-4753600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:4751600-4754000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:4753400-4753800	Enhancers	Fetal Intestine Small	intestine
29	chr8:4753600-4754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:4754000-4754600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:4754000-4754600	Active TSS	Duodenum Mucosa	Duodenum
32	chr8:4754000-4755000	Active TSS	Fetal Intestine Large	intestine
33	chr8:4754000-4755000	Active TSS	Fetal Intestine Small	intestine
34	chr8:4754200-4754800	Active TSS	Liver	Liver

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