Variant report

Variant	nsv8275
Chromosome Location	chr8:6797496-6801673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:6800200-6800350	GM12873	blood:	n/a	n/a
2	CTCF	chr8:6800300-6800450	GM12865	blood:	n/a	n/a
3	MAX	chr8:6801246-6801677	NB4	blood:	n/a	n/a
4	MYC	chr8:6799891-6799936	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr8:6801237-6801716	NB4	blood:	n/a	n/a
6	MYC	chr8:6799948-6799956	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr8:6801152-6801526	GM12878	blood:	n/a	n/a
8	SPI1	chr8:6801220-6801517	GM12878	blood:	n/a	chr8:6801384-6801397 chr8:6801381-6801390
9	SPI1	chr8:6801193-6801590	GM12891	blood:	n/a	chr8:6801384-6801397 chr8:6801381-6801390
10	SPI1	chr8:6801183-6801528	GM12891	blood:	n/a	chr8:6801384-6801397 chr8:6801381-6801390
11	STAT3	chr8:6798414-6798500	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6796114..6798602-chr8:6803030..6805863,2	K562	blood:

Variant related genes	Relation type
DEFA4	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538368795	chr8:6797522-6797523	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190858631	chr8:6797528-6797529	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2741675	chr8:6797532-6797533	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575690750	chr8:6797549-6797550	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535676670	chr8:6797570-6797571	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181006410	chr8:6797571-6797572	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111953332	chr8:6797675-6797676	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566375493	chr8:6797676-6797677	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58566265	chr8:6797681-6797682	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558120823	chr8:6797692-6797693	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577983844	chr8:6797693-6797694	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2741674	chr8:6797712-6797713	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557897448	chr8:6797715-6797716	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190266699	chr8:6797728-6797729	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576268134	chr8:6797734-6797735	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148816326	chr8:6797737-6797738	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113308959	chr8:6797775-6797776	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182377793	chr8:6797786-6797787	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376991836	chr8:6797799-6797800	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115878136	chr8:6797819-6797820	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57469209	chr8:6797826-6797827	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564095253	chr8:6797839-6797840	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187404179	chr8:6797849-6797850	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2702868	chr8:6797855-6797856	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569430296	chr8:6797862-6797863	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529408842	chr8:6797863-6797864	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549560516	chr8:6797884-6797885	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566180176	chr8:6797885-6797886	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535308345	chr8:6797897-6797898	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558193728	chr8:6797908-6797909	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2981399	chr8:6797921-6797922	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138992962	chr8:6797930-6797931	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537456204	chr8:6797933-6797934	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557449027	chr8:6797934-6797935	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112169650	chr8:6797948-6797949	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142286223	chr8:6797971-6797972	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543190054	chr8:6797973-6797974	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146363481	chr8:6798004-6798005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112954983	chr8:6798015-6798016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2702869	chr8:6798021-6798022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191700843	chr8:6798050-6798051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532734617	chr8:6798051-6798052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543025798	chr8:6798097-6798098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56251199	chr8:6798127-6798128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528956276	chr8:6798161-6798162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113257010	chr8:6798187-6798188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183973464	chr8:6798217-6798218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564828333	chr8:6798255-6798256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375711437	chr8:6798281-6798282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116276718	chr8:6798289-6798290	Weak transcription Enhancers	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6785800-6798800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:6793000-6798000	Enhancers	Dnd41	blood
3	chr8:6793800-6800200	Weak transcription	Fetal Thymus	thymus
4	chr8:6794600-6829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:6796600-6797600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr8:6796600-6797800	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:6796600-6797800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:6796600-6797800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:6796600-6797800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
10	chr8:6796800-6798000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr8:6797400-6797800	Enhancers	Primary B cells from cord blood	blood
12	chr8:6798000-6799600	Weak transcription	Dnd41	blood
13	chr8:6799600-6802800	Enhancers	Dnd41	blood
14	chr8:6799800-6800400	Enhancers	HMEC	breast
15	chr8:6800000-6800200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr8:6800200-6803200	Enhancers	Fetal Thymus	thymus
17	chr8:6800200-6804000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:6800800-6801400	Weak transcription	Spleen	Spleen
19	chr8:6800800-6802800	Enhancers	Thymus	Thymus
20	chr8:6801000-6801400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr8:6801000-6801800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr8:6801000-6802400	Enhancers	GM12878-XiMat	blood
23	chr8:6801400-6801600	Enhancers	Spleen	Spleen
24	chr8:6801600-6808800	Weak transcription	Spleen	Spleen

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