Variant report

Variant	nsv972531
Chromosome Location	chr8:104202013-104206786
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104201251..104203318-chr8:104203773..104206648,5	MCF-7	breast:
2	chr8:104194826..104196898-chr8:104201922..104204507,2	MCF-7	breast:
3	chr8:104201949..104203715-chr8:104205796..104207367,2	K562	blood:
4	chr8:104190126..104192266-chr8:104202856..104205626,2	MCF-7	breast:
5	chr8:104206601..104207101-chr8:146078277..146078778,2	Hela-S3	cervix:
6	chr8:104201949..104203715-chr8:104205796..104207367,2	K562	blood:
7	chr8:104201251..104203318-chr8:104203773..104206648,5	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf56-1	chr8:104203192-104203674	ENSG00000247081
2	lnc-C8orf56-1	chr8:104203192-104203674	ENSG00000247081.3
3	lnc-C8orf56-1	chr8:104203457-104203674	ENSG00000247081

No data

Variant related genes	Relation type
ENSG00000170619	chromatin interactions
ESPL1	miRNA target sites

Extended variants
information (count: 156 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576830961	chr8:104202042-104202043	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186396351	chr8:104202066-104202067	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533972727	chr8:104202071-104202072	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149563372	chr8:104202078-104202079	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112103150	chr8:104202101-104202102	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535225800	chr8:104202102-104202103	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561078981	chr8:104202145-104202146	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200789564	chr8:104202240-104202241	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373666102	chr8:104202261-104202262	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190353807	chr8:104202280-104202281	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546720083	chr8:104202317-104202318	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111282809	chr8:104202398-104202399	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575136934	chr8:104202401-104202402	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13279226	chr8:104202425-104202426	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs551239462	chr8:104202475-104202476	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114667005	chr8:104202522-104202523	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536976658	chr8:104202558-104202559	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375862931	chr8:104202578-104202579	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548462201	chr8:104202588-104202589	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566735402	chr8:104202641-104202642	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533986174	chr8:104202674-104202675	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558673582	chr8:104202714-104202715	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576818652	chr8:104202763-104202764	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557592678	chr8:104202804-104202805	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537887976	chr8:104202839-104202840	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182968181	chr8:104202859-104202860	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4734691	chr8:104202966-104202967	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550466920	chr8:104202976-104202977	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141731836	chr8:104202978-104202979	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77488076	chr8:104203021-104203022	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201830290	chr8:104203053-104203054	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188084280	chr8:104203055-104203056	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139964585	chr8:104203067-104203068	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143449646	chr8:104203089-104203090	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146763807	chr8:104203149-104203150	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539861387	chr8:104203195-104203196	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs118044666	chr8:104203214-104203215	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs138991450	chr8:104203240-104203241	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs562521162	chr8:104203269-104203270	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs191232847	chr8:104203285-104203286	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs548478405	chr8:104203341-104203342	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539478710	chr8:104203342-104203343	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs574398140	chr8:104203343-104203344	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543385488	chr8:104203351-104203352	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs534164893	chr8:104203352-104203353	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs35097791	chr8:104203425-104203426	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs398009149	chr8:104203437-104203438	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552239023	chr8:104203446-104203447	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs570641228	chr8:104203488-104203489	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs538350398	chr8:104203495-104203496	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104192800-104219200	Weak transcription	Aorta	Aorta
2	chr8:104193000-104204800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:104193000-104209000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:104193400-104220000	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:104193600-104220200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:104194200-104217600	Weak transcription	Fetal Brain Female	brain
7	chr8:104197000-104210000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:104197200-104218600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:104198600-104202800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:104198600-104204200	Weak transcription	HSMMtube	muscle
11	chr8:104198600-104210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:104199600-104202200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:104199800-104208800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:104200000-104204400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:104200000-104204800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:104200000-104215000	Weak transcription	NHDF-Ad	bronchial
17	chr8:104200200-104204600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:104200600-104205400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:104201600-104202400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:104201600-104204200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:104201800-104202200	Enhancers	Spleen	Spleen
22	chr8:104201800-104202400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:104201800-104202600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:104201800-104207000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:104201800-104207400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr8:104201800-104209000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:104202200-104202600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:104202200-104207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:104202400-104205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:104202400-104222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:104202600-104203800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:104202600-104204800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:104202800-104205600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:104203800-104208400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:104204200-104207400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:104204600-104205400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:104204800-104205200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:104204800-104205200	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr8:104204800-104206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:104205000-104208200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:104205200-104220200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:104205400-104206200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:104205400-104213000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:104205600-104207600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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