Variant report

Variant	nsv890345
Chromosome Location	chr8:10068073-10093228
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	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:

Extended variants
information (count: 1583 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17749155	chr8:10068073-10068074	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556094569	chr8:10068112-10068113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17151349	chr8:10068120-10068121	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576245036	chr8:10068165-10068166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76475836	chr8:10068201-10068202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115482672	chr8:10068229-10068230	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143955947	chr8:10068231-10068232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530862342	chr8:10068248-10068249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550586096	chr8:10068249-10068250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188422515	chr8:10068265-10068266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181269589	chr8:10068275-10068276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148651300	chr8:10068280-10068281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532922849	chr8:10068303-10068304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144435243	chr8:10068306-10068307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7827921	chr8:10068312-10068313	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35926184	chr8:10068327-10068328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527268181	chr8:10068337-10068338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531758184	chr8:10068348-10068349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183560360	chr8:10068364-10068365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367932972	chr8:10068384-10068385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7829161	chr8:10068397-10068398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534218948	chr8:10068398-10068399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561846450	chr8:10068407-10068408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188293576	chr8:10068414-10068415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570785249	chr8:10068416-10068417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539552738	chr8:10068419-10068420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556592709	chr8:10068468-10068469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576171517	chr8:10068471-10068472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543434310	chr8:10068476-10068477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535680162	chr8:10068477-10068478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536831826	chr8:10068512-10068513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563370682	chr8:10068516-10068517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555577487	chr8:10068531-10068532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182068161	chr8:10068544-10068545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187661435	chr8:10068557-10068558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532357618	chr8:10068600-10068601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555249105	chr8:10068603-10068604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191974369	chr8:10068613-10068614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181632010	chr8:10068624-10068625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552292495	chr8:10068627-10068628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563433282	chr8:10068656-10068657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528935931	chr8:10068679-10068680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566162200	chr8:10068689-10068690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548421635	chr8:10068708-10068709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186145221	chr8:10068728-10068729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62491576	chr8:10068735-10068736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147421989	chr8:10068736-10068737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568672607	chr8:10068756-10068757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114904961	chr8:10068759-10068760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139748649	chr8:10068761-10068762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	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
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
2	chr8:10055400-10074600	Weak transcription	Left Ventricle	heart
3	chr8:10055400-10078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:10055600-10086200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:10058400-10077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:10058400-10086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:10060200-10103000	Weak transcription	Gastric	stomach
8	chr8:10061200-10074400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:10061400-10071200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:10062600-10078200	Weak transcription	Pancreas	Pancrea
11	chr8:10062600-10078400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:10062800-10078200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:10063400-10069200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:10063400-10075200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:10063600-10075400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:10064400-10072600	Weak transcription	Lung	lung
17	chr8:10064400-10073000	Weak transcription	Aorta	Aorta
18	chr8:10064400-10086000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:10064600-10071200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:10064800-10079600	Weak transcription	Primary B cells from cord blood	blood
21	chr8:10065000-10071000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:10065000-10071600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:10065000-10073400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:10065200-10070400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:10065200-10078400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:10065400-10071800	Weak transcription	Brain Germinal Matrix	brain
27	chr8:10066000-10071600	Weak transcription	Fetal Brain Female	brain
28	chr8:10066200-10071600	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:10066400-10069200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:10066400-10074400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:10066800-10074400	Weak transcription	Right Ventricle	heart
32	chr8:10067400-10068200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:10067400-10068800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:10067400-10068800	Strong transcription	Primary T cells from cord blood	blood
35	chr8:10067600-10071000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:10067800-10071800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:10068000-10068400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:10068000-10069000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:10068000-10069000	Weak transcription	Fetal Brain Male	brain
40	chr8:10068000-10071400	Weak transcription	Liver	Liver
41	chr8:10068000-10079400	Weak transcription	Ovary	ovary
42	chr8:10068200-10069600	Enhancers	Fetal Intestine Large	intestine
43	chr8:10068200-10081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:10068400-10074000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:10068800-10069200	Enhancers	Fetal Intestine Small	intestine
46	chr8:10068800-10071200	Weak transcription	Primary T cells from cord blood	blood
47	chr8:10068800-10074000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:10069000-10069400	Enhancers	Fetal Brain Male	brain
49	chr8:10069000-10071600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:10069200-10071000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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