Variant report

Variant	nsv889898
Chromosome Location	chr8:3203171-3229812
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	chr8:3208152..3210922-chr8:3213074..3214852,2	K562	blood:
2	chr8:3208152..3210922-chr8:3213074..3214852,2	K562	blood:

Extended variants
information (count: 2204 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2204 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12546513	chr8:3203171-3203172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566824460	chr8:3203174-3203175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368853101	chr8:3203202-3203203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188813651	chr8:3203203-3203204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538935718	chr8:3203232-3203233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145079551	chr8:3203290-3203291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569265184	chr8:3203302-3203303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76529912	chr8:3203328-3203329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574955903	chr8:3203334-3203335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117071574	chr8:3203337-3203338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560611166	chr8:3203377-3203378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140890818	chr8:3203380-3203381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528008064	chr8:3203407-3203408	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149093895	chr8:3203416-3203417	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374822850	chr8:3203445-3203446	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74584276	chr8:3203463-3203464	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192688721	chr8:3203467-3203468	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539878125	chr8:3203485-3203486	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13248696	chr8:3203500-3203501	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529863852	chr8:3203537-3203538	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183371150	chr8:3203542-3203543	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566750439	chr8:3203560-3203561	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187555520	chr8:3203564-3203565	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542845587	chr8:3203590-3203591	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570863155	chr8:3203612-3203613	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146716681	chr8:3203613-3203614	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556399055	chr8:3203619-3203620	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59640220	chr8:3203722-3203723	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184802899	chr8:3203724-3203725	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542038675	chr8:3203725-3203726	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397970826	chr8:3203732-3203733	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61226613	chr8:3203733-3203734	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs156078	chr8:3203738-3203739	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546096356	chr8:3203739-3203740	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564491275	chr8:3203742-3203743	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374979205	chr8:3203769-3203770	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189486671	chr8:3203805-3203806	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545272753	chr8:3203839-3203840	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191995821	chr8:3203850-3203851	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565163628	chr8:3203884-3203885	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527708865	chr8:3203938-3203939	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529823175	chr8:3203946-3203947	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184503178	chr8:3203947-3203948	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190423083	chr8:3203976-3203977	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74987648	chr8:3203979-3203980	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181202316	chr8:3203983-3203984	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186617566	chr8:3204005-3204006	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369464867	chr8:3204012-3204013	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189059092	chr8:3204014-3204015	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537838610	chr8:3204019-3204020	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3188000-3215600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3203400-3204600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr8:3203800-3204400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:3203800-3204600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:3203800-3204600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:3203800-3204800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr8:3204400-3204800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:3206800-3207000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:3210800-3211400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:3211000-3211200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:3211200-3211800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:3211400-3212000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:3211800-3212000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:3213200-3215800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:3213600-3215600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:3215600-3215800	Enhancers	Brain Angular Gyrus	brain
17	chr8:3215600-3215800	Enhancers	Brain Hippocampus Middle	brain
18	chr8:3215600-3215800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:3215600-3216200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:3215600-3216200	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:3215600-3216800	Enhancers	Fetal Brain Male	brain
22	chr8:3215800-3216200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr8:3215800-3216200	Active TSS	Brain Anterior Caudate	brain
24	chr8:3215800-3216200	Active TSS	Brain Hippocampus Middle	brain
25	chr8:3215800-3216200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:3215800-3216200	Active TSS	Brain Substantia Nigra	brain
27	chr8:3216000-3216400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:3216200-3216400	Active TSS	Brain Angular Gyrus	brain
29	chr8:3216200-3216800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:3216400-3227200	Weak transcription	Brain Angular Gyrus	brain
31	chr8:3216400-3231200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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