Variant report

Variant	nsv519822
Chromosome Location	chr8:10803617-10815515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10739545..10741704-chr8:10806254..10808140,2	K562	blood:
2	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:
3	chr8:10811750..10814627-chr8:10819721..10822751,3	K562	blood:
4	chr8:10811750..10814627-chr8:10819721..10822021,2	K562	blood:
5	chr8:10813776..10816525-chr8:10817526..10819399,2	K562	blood:
6	chr8:10785719..10786553-chr8:10802895..10803663,2	K562	blood:
7	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:

Extended variants
information (count: 717 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:717 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4841462	chr8:10803617-10803618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147234649	chr8:10803636-10803637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75202192	chr8:10803642-10803643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139716538	chr8:10803655-10803656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185025226	chr8:10803661-10803662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546543548	chr8:10803664-10803665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568110548	chr8:10803680-10803681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189487412	chr8:10803681-10803682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544758372	chr8:10803685-10803686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557019829	chr8:10803687-10803688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181085472	chr8:10803710-10803711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539994959	chr8:10803713-10803714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558083529	chr8:10803724-10803725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73196842	chr8:10803725-10803726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540928657	chr8:10803733-10803734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562412700	chr8:10803739-10803740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537850327	chr8:10803769-10803770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574474590	chr8:10803801-10803802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149376563	chr8:10803802-10803803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373970902	chr8:10803819-10803820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527517009	chr8:10803836-10803837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557724893	chr8:10803849-10803850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530537262	chr8:10803881-10803882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372701290	chr8:10803883-10803884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116662965	chr8:10803904-10803905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564132647	chr8:10803905-10803906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528316448	chr8:10803980-10803981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546480453	chr8:10804002-10804003	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs185924821	chr8:10804015-10804016	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs386722220	chr8:10804020-10804021	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs111760220	chr8:10804022-10804023	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs200822982	chr8:10804030-10804031	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs535437361	chr8:10804052-10804053	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs190684746	chr8:10804054-10804055	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs148537834	chr8:10804059-10804060	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs368116072	chr8:10804063-10804064	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs114438391	chr8:10804078-10804079	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs371695197	chr8:10804079-10804080	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs116568661	chr8:10804081-10804082	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs534433185	chr8:10804087-10804088	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs556077836	chr8:10804104-10804105	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs374018614	chr8:10804105-10804106	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs541813392	chr8:10804111-10804112	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs563149425	chr8:10804123-10804124	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs71518505	chr8:10804128-10804129	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs545577780	chr8:10804133-10804134	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs146607890	chr8:10804142-10804143	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs564248560	chr8:10804168-10804169	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs528255655	chr8:10804197-10804198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs78550065	chr8:10804206-10804207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10795800-10805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10797600-10807200	Weak transcription	Right Atrium	heart
3	chr8:10802800-10806400	Weak transcription	Fetal Heart	heart
4	chr8:10803600-10805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10804000-10804200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:10804400-10804800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr8:10805200-10807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:10805800-10806000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:10805800-10806000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr8:10805800-10808000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10806000-10806600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:10806000-10807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:10806000-10807000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:10806400-10806800	Enhancers	Fetal Heart	heart
15	chr8:10807000-10807400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:10807000-10807800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:10807200-10808000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:10807400-10807600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:10807400-10808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:10807400-10818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:10807600-10807800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:10808000-10808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:10808000-10809200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:10808200-10808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:10808600-10809800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:10808800-10810400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10809200-10809800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:10810400-10818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10814000-10815000	Enhancers	Fetal Brain Male	brain
30	chr8:10814600-10815200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr8:10814800-10815200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:10814800-10815400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:10815000-10817600	Weak transcription	Fetal Brain Male	brain
34	chr8:10815000-10820800	Enhancers	Fetal Muscle Leg	muscle
35	chr8:10815200-10816800	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:10815200-10818200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:10815400-10818600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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