Variant report

Variant	nsv1027588
Chromosome Location	chr8:78429707-78512574
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:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:
2	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFHX4-3	chr8:78436701-78436793	ENSG00000254366.2
2	lnc-ZFHX4-3	chr8:78449461-78449526	ENSG00000254366.2
3	lnc-ZFHX4-3	chr8:78449461-78449526	NONHSAT127353
4	lnc-ZFHX4-3	chr8:78436701-78436793	ENSG00000254366
5	lnc-ZFHX4-3	chr8:78436701-78436793	NONHSAT127353
6	lnc-ZFHX4-3	chr8:78449461-78449526	ENSG00000254366

No data

Extended variants
information (count: 750 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531944090	chr8:78430009-78430010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151268620	chr8:78430013-78430014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190602613	chr8:78430028-78430029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529033015	chr8:78430057-78430058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183500602	chr8:78430101-78430102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112897823	chr8:78430102-78430103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532757611	chr8:78430127-78430128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551665603	chr8:78430153-78430154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139551993	chr8:78430156-78430157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536944976	chr8:78430194-78430195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555184084	chr8:78430215-78430216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567110502	chr8:78430245-78430246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144210448	chr8:78430256-78430257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553949788	chr8:78430279-78430280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117998888	chr8:78430296-78430297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545829193	chr8:78430353-78430354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558128734	chr8:78430385-78430386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538810206	chr8:78432402-78432403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13264449	chr8:78432418-78432419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182054432	chr8:78432457-78432458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370933371	chr8:78432505-78432506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575033707	chr8:78432523-78432524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145773460	chr8:78432543-78432544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554294020	chr8:78432599-78432600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186466805	chr8:78432635-78432636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113719770	chr8:78432637-78432638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530717731	chr8:78432666-78432667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376040820	chr8:78432668-78432669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138614285	chr8:78432685-78432686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566006772	chr8:78432711-78432712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190851334	chr8:78432715-78432716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377563755	chr8:78432818-78432819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544466634	chr8:78432822-78432823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs13272657	chr8:78432835-78432836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562663230	chr8:78432892-78432893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs13272699	chr8:78432932-78432933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370803079	chr8:78432933-78432934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs827479	chr8:78432934-78432935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112301685	chr8:78432936-78432937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531062783	chr8:78432938-78432939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549478178	chr8:78432965-78432966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs202048728	chr8:78432972-78432973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200018592	chr8:78432975-78432976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375698743	chr8:78432976-78432977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs827480	chr8:78432985-78432986	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528453828	chr8:78433006-78433007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs28694158	chr8:78433026-78433027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71260384	chr8:78433030-78433031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150219560	chr8:78433031-78433032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs398008448	chr8:78433050-78433051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78430000-78430400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:78432400-78432800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:78432800-78433200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:78432800-78433400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr8:78435800-78436000	Enhancers	Brain Hippocampus Middle	brain
6	chr8:78438800-78439400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:78451400-78451800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:78451400-78452000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:78454400-78455000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:78460000-78460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:78462800-78463200	ZNF genes & repeats	Fetal Muscle Leg	muscle
12	chr8:78463000-78463400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:78463600-78466000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:78464800-78465200	ZNF genes & repeats	Aorta	Aorta
15	chr8:78466000-78466400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:78477000-78477800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:78477000-78477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:78477200-78477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:78477200-78477800	Enhancers	Adipose Nuclei	Adipose
20	chr8:78477200-78477800	Enhancers	Liver	Liver
21	chr8:78477200-78478000	Enhancers	Primary T cells from cord blood	blood
22	chr8:78477600-78477800	Enhancers	Osteobl	bone
23	chr8:78477600-78478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:78477600-78478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:78477800-78478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:78477800-78478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:78477800-78478000	Flanking Active TSS	Liver	Liver
28	chr8:78477800-78478000	Active TSS	Hela-S3	cervix
29	chr8:78477800-78478200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:78477800-78478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:78477800-78478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:78477800-78478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:78477800-78478400	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:78477800-78478400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr8:78477800-78478400	Flanking Active TSS	Osteobl	bone
36	chr8:78477800-78478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:78477800-78478600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:78477800-78478800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:78477800-78478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:78477800-78479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:78477800-78479200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:78478000-78478200	Active TSS	Liver	Liver
43	chr8:78478000-78478200	Flanking Active TSS	Hela-S3	cervix
44	chr8:78478000-78478400	Enhancers	Fetal Kidney	kidney
45	chr8:78478000-78478600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:78478000-78478600	Enhancers	Fetal Stomach	stomach
47	chr8:78478000-78478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:78478200-78479000	Enhancers	Hela-S3	cervix
49	chr8:78478200-78479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:78478400-78479200	Enhancers	Osteobl	bone

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