Variant report

Variant	nsv1016864
Chromosome Location	chr8:8255831-8273955
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8153909..8155842-chr8:8254348..8256276,2	MCF-7	breast:
2	chr8:8240682..8243465-chr8:8266165..8269097,2	MCF-7	breast:
3	chr8:8243706..8245938-chr8:8270141..8271973,2	MCF-7	breast:
4	chr8:8237781..8239370-chr8:8268947..8270951,2	MCF-7	breast:
5	chr8:8269803..8273225-chr8:8273897..8276218,3	K562	blood:
6	chr8:8269803..8273225-chr8:8273897..8276218,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRAGMIN.1-1	chr8:8272200-8272611	ENSG00000253505
2	lnc-PRAGMIN.1-5	chr8:8256582-8256697	NONHSAT124872

No data

Variant related genes	Relation type
ENSG00000182319	chromatin interactions

Extended variants
information (count: 1065 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2979154	chr8:8255831-8255832	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549645164	chr8:8255852-8255853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540078319	chr8:8255916-8255917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185127953	chr8:8255963-8255964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535124731	chr8:8256011-8256012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555630988	chr8:8256023-8256024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565989912	chr8:8256036-8256037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188794374	chr8:8256055-8256056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558300526	chr8:8256064-8256065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs578120327	chr8:8256080-8256081	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543879325	chr8:8256132-8256133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548498341	chr8:8256149-8256150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4398918	chr8:8256151-8256152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112341808	chr8:8256152-8256153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7836839	chr8:8256178-8256179	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2945879	chr8:8256197-8256198	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367782088	chr8:8256202-8256203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs527556521	chr8:8256210-8256211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553336449	chr8:8256243-8256244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369016547	chr8:8256245-8256246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs540982994	chr8:8256248-8256249	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150752130	chr8:8256254-8256255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564291526	chr8:8256255-8256256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62497507	chr8:8256258-8256259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573375020	chr8:8256259-8256260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74650437	chr8:8256260-8256261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200427028	chr8:8256268-8256269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs144438151	chr8:8256283-8256284	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549844628	chr8:8256295-8256296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537235059	chr8:8256302-8256303	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146115135	chr8:8256309-8256310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2945878	chr8:8256312-8256313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs548522028	chr8:8256316-8256317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs77284127	chr8:8256321-8256322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535287797	chr8:8256332-8256333	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs539112807	chr8:8256344-8256345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552556517	chr8:8256391-8256392	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572504816	chr8:8256397-8256398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558197979	chr8:8256402-8256403	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369044380	chr8:8256417-8256418	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs571811562	chr8:8256438-8256439	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs28561934	chr8:8256445-8256446	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192396206	chr8:8256468-8256469	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574136270	chr8:8256496-8256497	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183679651	chr8:8256505-8256506	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34837602	chr8:8256524-8256525	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78708267	chr8:8256534-8256535	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573310111	chr8:8256567-8256568	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140101712	chr8:8256586-8256587	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs74360837	chr8:8256599-8256600	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	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
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8245000-8256800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:8248600-8256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8249000-8266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:8252800-8256200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:8252800-8256400	Weak transcription	Osteobl	bone
6	chr8:8253200-8260200	Weak transcription	HSMMtube	muscle
7	chr8:8253800-8256600	Enhancers	Primary B cells from cord blood	blood
8	chr8:8253800-8257200	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:8254000-8256400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:8254000-8257200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:8254000-8257800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:8254200-8256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:8254200-8256600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:8254200-8257200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:8254200-8257400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:8254200-8258200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:8254600-8256000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:8254600-8256000	Weak transcription	Brain Germinal Matrix	brain
19	chr8:8254600-8256400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:8254800-8256200	Enhancers	GM12878-XiMat	blood
21	chr8:8254800-8258000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:8254800-8266200	Weak transcription	Fetal Kidney	kidney
23	chr8:8255400-8256000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:8255400-8256400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:8255400-8257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:8255400-8258000	Enhancers	HepG2	liver
27	chr8:8255600-8256200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:8255600-8256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:8255600-8256400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:8255600-8256400	Enhancers	Brain Substantia Nigra	brain
31	chr8:8255600-8257800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:8255800-8256400	Enhancers	Brain Anterior Caudate	brain
33	chr8:8255800-8256400	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:8255800-8256800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:8255800-8256800	Enhancers	Brain Hippocampus Middle	brain
36	chr8:8255800-8257000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:8256000-8256400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:8256000-8256400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:8256000-8256600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:8256000-8257000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr8:8256000-8257000	Enhancers	Brain Germinal Matrix	brain
42	chr8:8256000-8257200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:8256200-8256800	Enhancers	NH-A	brain
44	chr8:8256200-8257000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:8256200-8257800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:8256200-8260800	Weak transcription	GM12878-XiMat	blood
47	chr8:8256400-8256600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:8256400-8256600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:8256400-8257000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:8256400-8257000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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