Variant report

Variant	nsv889891
Chromosome Location	chr8:2781277-2831443
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
2	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
3	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
4	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
5	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
6	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
7	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
8	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
9	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
10	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
11	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
12	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
13	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:

No data

Extended variants
information (count: 2861 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2861 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2627283	chr8:2781277-2781278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573657502	chr8:2781287-2781288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190846969	chr8:2781318-2781319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564830017	chr8:2781328-2781329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556159696	chr8:2781344-2781345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576127950	chr8:2781363-2781364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544892691	chr8:2781418-2781419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59189300	chr8:2781454-2781455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533489736	chr8:2781474-2781475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183094719	chr8:2781490-2781491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560568785	chr8:2781537-2781538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113788870	chr8:2781591-2781592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529378385	chr8:2781596-2781597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549073038	chr8:2781597-2781598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188128054	chr8:2781609-2781610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74992501	chr8:2781620-2781621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151030358	chr8:2781624-2781625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562040103	chr8:2781628-2781629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192299000	chr8:2781637-2781638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75177555	chr8:2781708-2781709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567360083	chr8:2781714-2781715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536307217	chr8:2781716-2781717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115050499	chr8:2781721-2781722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116992265	chr8:2781727-2781728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560895369	chr8:2781740-2781741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537445748	chr8:2781757-2781758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372262757	chr8:2781774-2781775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556182425	chr8:2781804-2781805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545005041	chr8:2781814-2781815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140023629	chr8:2781821-2781822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578193690	chr8:2781825-2781826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536524701	chr8:2781833-2781834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540610147	chr8:2781839-2781840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560694101	chr8:2781856-2781857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574152941	chr8:2781862-2781863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549921768	chr8:2781865-2781866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115514584	chr8:2781877-2781878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543013942	chr8:2781898-2781899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531722450	chr8:2781901-2781902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551360834	chr8:2781941-2781942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184456138	chr8:2781949-2781950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569991967	chr8:2781982-2781983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200001416	chr8:2781987-2781988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527542138	chr8:2781996-2781997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547379951	chr8:2782042-2782043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2604126	chr8:2782064-2782065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558747048	chr8:2782087-2782088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112578145	chr8:2782094-2782095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146962152	chr8:2782107-2782108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114068297	chr8:2782135-2782136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Breast cancer	20932292	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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2777600-2790600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:2792800-2842800	Weak transcription	K562	blood
3	chr8:2797400-2798000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:2797400-2798200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:2797400-2798400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:2797600-2798000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:2797600-2798000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:2797600-2798400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:2797600-2798400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:2797600-2798400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:2797800-2798000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr8:2798000-2798400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:2800600-2836800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:2804200-2812600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:2810200-2810600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:2811200-2836800	Weak transcription	Brain Anterior Caudate	brain
17	chr8:2811800-2836800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:2812400-2813200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:2812400-2853000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:2812600-2813200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:2813200-2819600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:2815200-2816600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:2815200-2816800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:2815800-2816000	Enhancers	Fetal Muscle Leg	muscle
25	chr8:2816600-2816800	Enhancers	Fetal Muscle Leg	muscle
26	chr8:2819600-2820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:2820400-2824000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:2820800-2832600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:2823600-2824400	Enhancers	Fetal Muscle Leg	muscle
30	chr8:2824000-2824400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:2824000-2824400	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:2824200-2825600	Enhancers	Brain Germinal Matrix	brain
33	chr8:2824600-2825000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:2824800-2825000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:2825000-2836600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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