Variant report

Variant	nsv1016506
Chromosome Location	chr8:78414508-78750343
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:9)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:78626426..78628244-chr8:78635247..78637782,2	MCF-7	breast:
2	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:
3	chr8:78512754..78513523-chr8:79163081..79163614,2	MCF-7	breast:
4	chr8:78518144..78519144-chr8:79144271..79145233,9	MCF-7	breast:
5	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
6	chr8:78626426..78628244-chr8:78635247..78637782,2	MCF-7	breast:
7	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
8	chr13:31039728..31040439-chr8:78741209..78742131,2	HCT-116	colon:
9	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFHX4-3	chr8:78427531-78427586	ENSG00000254366
2	lnc-ZFHX4-3	chr8:78418018-78418245	ENSG00000254366.2
3	lnc-ZFHX4-3	chr8:78436701-78436793	NONHSAT127353
4	lnc-ZFHX4-3	chr8:78418018-78418245	ENSG00000254366
5	lnc-ZFHX4-3	chr8:78418018-78418245	NONHSAT127353
6	lnc-ZFHX4-3	chr8:78449461-78449526	ENSG00000254366
7	lnc-ZFHX4-3	chr8:78436701-78436793	ENSG00000254366
8	lnc-ZFHX4-3	chr8:78449461-78449526	ENSG00000254366.2
9	lnc-ZFHX4-3	chr8:78420742-78420833	NONHSAT127353
10	lnc-ZFHX4-3	chr8:78518908-78518940	ENSG00000254366
11	lnc-ZFHX4-3	chr8:78427531-78427586	NONHSAT127353
12	lnc-ZFHX4-3	chr8:78436701-78436793	ENSG00000254366.2
13	lnc-ZFHX4-3	chr8:78427531-78427586	ENSG00000254366.2
14	lnc-ZFHX4-3	chr8:78449461-78449526	NONHSAT127353
15	lnc-ZFHX4-3	chr8:78518908-78518940	NONHSAT127353
16	lnc-ZFHX4-3	chr8:78420742-78420833	ENSG00000254366.2
17	lnc-ZFHX4-3	chr8:78420742-78420833	ENSG00000254366

No data

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 2818 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2818 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186608633	chr8:78414619-78414620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571537267	chr8:78414622-78414623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192619588	chr8:78414704-78414705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184701957	chr8:78414734-78414735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530184366	chr8:78414745-78414746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200407383	chr8:78414746-78414747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535266569	chr8:78414791-78414792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548657338	chr8:78414852-78414853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566788521	chr8:78414861-78414862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533913966	chr8:78414878-78414879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552474658	chr8:78414891-78414892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570776785	chr8:78414991-78414992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538059742	chr8:78415026-78415027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556435000	chr8:78415033-78415034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574966503	chr8:78415114-78415115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535230458	chr8:78415135-78415136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113872380	chr8:78415147-78415148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553807192	chr8:78415166-78415167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557830760	chr8:78416213-78416214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377188920	chr8:78416259-78416260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576101183	chr8:78416287-78416288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184991462	chr8:78416290-78416291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577613274	chr8:78416297-78416298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs264816	chr8:78416303-78416304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115792756	chr8:78416363-78416364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541186837	chr8:78416364-78416365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148100181	chr8:78416383-78416384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141829919	chr8:78416396-78416397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574106077	chr8:78418019-78418020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs541405852	chr8:78418053-78418054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs553715285	chr8:78418127-78418128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs578238334	chr8:78418138-78418139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs538032608	chr8:78418186-78418187	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs545713546	chr8:78418193-78418194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs139657028	chr8:78418198-78418199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs556682964	chr8:78418202-78418203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs576819375	chr8:78420636-78420637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544294369	chr8:78420661-78420662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562384311	chr8:78420674-78420675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574358943	chr8:78420713-78420714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147616704	chr8:78420762-78420763	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs560459011	chr8:78420763-78420764	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs527491233	chr8:78420839-78420840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552352357	chr8:78420862-78420863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188509202	chr8:78420895-78420896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116326064	chr8:78420908-78420909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367825119	chr8:78420932-78420933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551034434	chr8:78420958-78420959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569183475	chr8:78420984-78420985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536619076	chr8:78421020-78421021	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78414600-78415200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:78416200-78416400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:78420600-78420800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:78420800-78422000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:78421000-78421400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:78421000-78421400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:78421000-78421600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:78421000-78421600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:78421400-78421600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:78421400-78421800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:78421600-78422000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:78430000-78430400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:78432400-78432800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:78432800-78433200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:78432800-78433400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr8:78435800-78436000	Enhancers	Brain Hippocampus Middle	brain
17	chr8:78438800-78439400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:78451400-78451800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:78451400-78452000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:78454400-78455000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:78460000-78460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:78462800-78463200	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr8:78463000-78463400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:78463600-78466000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:78464800-78465200	ZNF genes & repeats	Aorta	Aorta
26	chr8:78466000-78466400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:78477000-78477800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:78477000-78477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:78477200-78477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:78477200-78477800	Enhancers	Adipose Nuclei	Adipose
31	chr8:78477200-78477800	Enhancers	Liver	Liver
32	chr8:78477200-78478000	Enhancers	Primary T cells from cord blood	blood
33	chr8:78477600-78477800	Enhancers	Osteobl	bone
34	chr8:78477600-78478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:78477600-78478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:78477800-78478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:78477800-78478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:78477800-78478000	Flanking Active TSS	Liver	Liver
39	chr8:78477800-78478000	Active TSS	Hela-S3	cervix
40	chr8:78477800-78478200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:78477800-78478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:78477800-78478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:78477800-78478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:78477800-78478400	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:78477800-78478400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:78477800-78478400	Flanking Active TSS	Osteobl	bone
47	chr8:78477800-78478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:78477800-78478600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:78477800-78478800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:78477800-78478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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