Variant report

Variant	nsv1017966
Chromosome Location	chr8:6158179-6239164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:
2	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:
3	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:
4	chr8:6116111..6116635-chr8:6188825..6189362,2	MCF-7	breast:
5	chr8:6145627..6147844-chr8:6162410..6164202,2	MCF-7	breast:
6	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
7	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
8	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
9	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:

No data

Extended variants
information (count: 3716 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:3716 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371905697	chr8:6158180-6158181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541418378	chr8:6158202-6158203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73506340	chr8:6158210-6158211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs199989336	chr8:6158213-6158214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533460390	chr8:6158229-6158230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550436538	chr8:6158259-6158260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570190912	chr8:6158260-6158261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529563942	chr8:6158268-6158269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549623901	chr8:6158298-6158299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs67928832	chr8:6158306-6158307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200276743	chr8:6158319-6158320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533570002	chr8:6158320-6158321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553350137	chr8:6158355-6158356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138098083	chr8:6158359-6158360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4840686	chr8:6158372-6158373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149500507	chr8:6158393-6158394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74826807	chr8:6158394-6158395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76807954	chr8:6158395-6158396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530049000	chr8:6158396-6158397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572221905	chr8:6158397-6158398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4840687	chr8:6158408-6158409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569872830	chr8:6158424-6158425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183943284	chr8:6158448-6158449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376767683	chr8:6158449-6158450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532194392	chr8:6158487-6158488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144019711	chr8:6158489-6158490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533474525	chr8:6158519-6158520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543889822	chr8:6158548-6158549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563751592	chr8:6158549-6158550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4840688	chr8:6158590-6158591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549290051	chr8:6158595-6158596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566412126	chr8:6158599-6158600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528752079	chr8:6158600-6158601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547000894	chr8:6158618-6158619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187757624	chr8:6158633-6158634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4840255	chr8:6158636-6158637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539171067	chr8:6158656-6158657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141628469	chr8:6158669-6158670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534309371	chr8:6158680-6158681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535664822	chr8:6158693-6158694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554579172	chr8:6158695-6158696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146216627	chr8:6158720-6158721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192431693	chr8:6158722-6158723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76336806	chr8:6158740-6158741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534873476	chr8:6158757-6158758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77109433	chr8:6158776-6158777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73662774	chr8:6158781-6158782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139046445	chr8:6158791-6158792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78354569	chr8:6158828-6158829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183922073	chr8:6158834-6158835	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6154400-6158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:6154400-6158200	Weak transcription	Osteobl	bone
3	chr8:6158200-6158400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:6158200-6160200	Enhancers	Osteobl	bone
5	chr8:6158400-6158800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:6158800-6159200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:6160000-6160200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:6160200-6161200	Weak transcription	Osteobl	bone
9	chr8:6160200-6167400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:6161000-6162200	Enhancers	Brain Germinal Matrix	brain
11	chr8:6161200-6161800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:6161200-6164000	Enhancers	Osteobl	bone
13	chr8:6162400-6162600	Enhancers	NH-A	brain
14	chr8:6162600-6163200	Weak transcription	NH-A	brain
15	chr8:6163200-6164000	Enhancers	NH-A	brain
16	chr8:6164000-6168800	Weak transcription	Osteobl	bone
17	chr8:6165600-6166000	Enhancers	Spleen	Spleen
18	chr8:6166000-6169000	Weak transcription	Spleen	Spleen
19	chr8:6167400-6167600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:6168400-6169600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:6168800-6169400	Enhancers	Osteobl	bone
22	chr8:6169000-6169200	Enhancers	A549	lung
23	chr8:6169400-6170800	Weak transcription	Osteobl	bone
24	chr8:6170600-6170800	Active TSS	A549	lung
25	chr8:6170800-6171600	Flanking Active TSS	A549	lung
26	chr8:6170800-6171600	Enhancers	Osteobl	bone
27	chr8:6171000-6171400	Bivalent Enhancer	HepG2	liver
28	chr8:6173000-6173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:6173200-6173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:6182200-6182400	Enhancers	Lung	lung
31	chr8:6187800-6189800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:6188000-6188200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:6188000-6189800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:6188200-6189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:6188400-6189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:6188400-6189200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:6188400-6190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:6188600-6188800	Enhancers	Osteobl	bone
39	chr8:6188600-6189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr8:6188600-6190000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:6188600-6190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:6188800-6189800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:6188800-6191800	Weak transcription	Osteobl	bone
44	chr8:6189000-6189400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:6189000-6189400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:6189200-6189600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:6189200-6189600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:6189400-6189600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:6189400-6189800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:6189400-6190000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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