Variant report

Variant	nsv933260
Chromosome Location	chr8:6357124-6410013
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6394442..6396969-chr8:6403020..6405358,2	K562	blood:
2	chr8:6386091..6387814-chr8:6394957..6397917,2	K562	blood:
3	chr8:6386091..6387814-chr8:6394957..6397917,2	K562	blood:
4	chr8:6405547..6408006-chr8:6408375..6411218,3	K562	blood:
5	chr8:6394442..6396969-chr8:6403020..6405358,2	K562	blood:
6	chr8:6393677..6395465-chr8:6397894..6400469,2	K562	blood:
7	chr8:6393775..6396969-chr8:6403020..6405358,3	K562	blood:
8	chr8:6405547..6408006-chr8:6408375..6411218,3	K562	blood:
9	chr8:6393775..6396969-chr8:6403020..6405358,3	K562	blood:
10	chr8:6407291..6408244-chr8:6417821..6418628,2	MCF-7	breast:
11	chr8:6404729..6406920-chr8:6412870..6416150,3	K562	blood:
12	chr8:6373777..6375573-chr8:6376126..6378974,2	K562	blood:
13	chr8:6357189..6359349-chr8:6362649..6365411,2	K562	blood:
14	chr8:6366887..6369432-chr8:6372035..6375805,3	K562	blood:
15	chr8:6393677..6395465-chr8:6397894..6400469,2	K562	blood:
16	chr8:6366887..6369432-chr8:6372035..6375805,3	K562	blood:
17	chr8:6407403..6409815-chr8:6410671..6412901,2	K562	blood:
18	chr8:6405224..6409336-chr8:6413306..6416659,4	K562	blood:
19	chr8:6373777..6375573-chr8:6376126..6378974,2	K562	blood:
20	chr8:6357189..6359349-chr8:6362649..6365411,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB1-3	chr8:6369418-6369852	NONHSAT124774

No data

Extended variants
information (count: 3299 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:3299 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559024813	chr8:6357159-6357160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114373469	chr8:6357165-6357166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376110421	chr8:6357181-6357182	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143176391	chr8:6357183-6357184	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540775915	chr8:6357185-6357186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78662277	chr8:6357191-6357192	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534495273	chr8:6357197-6357198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572307509	chr8:6357202-6357203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2442474	chr8:6357207-6357208	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188397013	chr8:6357215-6357216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564670184	chr8:6357227-6357228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530411926	chr8:6357233-6357234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2916716	chr8:6357235-6357236	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115520116	chr8:6357271-6357272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556041157	chr8:6357283-6357284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180830302	chr8:6357290-6357291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546911953	chr8:6357298-6357299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540216242	chr8:6357304-6357305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2916715	chr8:6357307-6357308	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372082654	chr8:6357321-6357322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373751891	chr8:6357322-6357323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186408516	chr8:6357330-6357331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565834652	chr8:6357338-6357339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376468118	chr8:6357342-6357343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140013412	chr8:6357360-6357361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371310213	chr8:6357364-6357365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375022779	chr8:6357366-6357367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3929194	chr8:6357372-6357373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201599657	chr8:6357381-6357382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200997321	chr8:6357402-6357403	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3860875	chr8:6357411-6357412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199861426	chr8:6357416-6357417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575824036	chr8:6357421-6357422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78564196	chr8:6357428-6357429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201078106	chr8:6357431-6357432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202015253	chr8:6357435-6357436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200049022	chr8:6357438-6357439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377727146	chr8:6357439-6357440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577172057	chr8:6357448-6357449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35344839	chr8:6357450-6357451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575037500	chr8:6357452-6357453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191315800	chr8:6357471-6357472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548121577	chr8:6357509-6357510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149859830	chr8:6357515-6357516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546024844	chr8:6357537-6357538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564608305	chr8:6357579-6357580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567959596	chr8:6357610-6357611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2242005	chr8:6357611-6357612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145806658	chr8:6357614-6357615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115080249	chr8:6357624-6357625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	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
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
Prostate cancer	17217626	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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6304400-6360200	Weak transcription	Esophagus	oesophagus
2	chr8:6308000-6372600	Weak transcription	HMEC	breast
3	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:6325800-6374400	Weak transcription	K562	blood
5	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:6338800-6360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:6338800-6360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
9	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
10	chr8:6339800-6360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:6340000-6360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:6340800-6360200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:6340800-6360400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:6341000-6360200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:6341000-6360600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:6341000-6372000	Weak transcription	A549	lung
19	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:6341200-6360400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:6341200-6360400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:6341200-6360800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
24	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
25	chr8:6341400-6363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:6341800-6360600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:6342000-6360400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:6342400-6357600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:6342400-6359200	Weak transcription	Left Ventricle	heart
30	chr8:6342400-6360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:6342400-6360200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:6342400-6360200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:6342400-6360200	Weak transcription	Fetal Stomach	stomach
34	chr8:6342400-6360200	Weak transcription	Pancreas	Pancrea
35	chr8:6342400-6360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:6342400-6360400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:6342400-6360400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:6342400-6360400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:6342400-6360400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:6342400-6360600	Weak transcription	Lung	lung
41	chr8:6342400-6365600	Weak transcription	Psoas Muscle	Psoas
42	chr8:6342400-6369600	Weak transcription	NHEK	skin
43	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:6342600-6360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:6342800-6360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:6343400-6360400	Weak transcription	Thymus	Thymus
47	chr8:6344400-6360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:6344600-6360200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:6345200-6360400	Weak transcription	Fetal Intestine Large	intestine
50	chr8:6345400-6357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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