Variant report

Variant	nsv819165
Chromosome Location	chr8:96259515-96260863
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96167676..96169648-chr8:96260449..96262617,2	MCF-7	breast:
2	chr8:95912286..95913059-chr8:96260714..96261265,2	MCF-7	breast:
3	chr8:96249665..96253673-chr8:96259430..96262765,4	K562	blood:
4	chr8:96047716..96050435-chr8:96257562..96260562,3	MCF-7	breast:
5	chr8:96123802..96126736-chr8:96258433..96260604,2	MCF-7	breast:
6	chr8:96177802..96180258-chr8:96258516..96260057,2	K562	blood:
7	chr8:96124960..96126763-chr8:96260721..96264387,3	MCF-7	breast:
8	chr8:96069257..96069944-chr8:96260679..96261427,2	MCF-7	breast:
9	chr8:96144307..96149700-chr8:96258787..96262664,8	MCF-7	breast:
10	chr8:95960421..95962635-chr8:96259003..96261145,2	MCF-7	breast:
11	chr8:96055071..96057640-chr8:96260633..96262435,2	MCF-7	breast:
12	chr8:96144497..96146468-chr8:96258716..96261972,4	MCF-7	breast:
13	chr8:96102152..96104618-chr8:96259174..96260844,2	K562	blood:
14	chr8:96259384..96261070-chr8:96280673..96282664,2	MCF-7	breast:
15	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164938	chromatin interactions
ENSG00000175895	chromatin interactions
ENSG00000156172	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000253773	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569009714	chr8:96259574-96259575	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs546389253	chr8:96259659-96259660	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs567009049	chr8:96259683-96259684	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs371650182	chr8:96259686-96259687	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs73695434	chr8:96259702-96259703	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs138046408	chr8:96259724-96259725	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs376011763	chr8:96259758-96259759	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs374243344	chr8:96259811-96259812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs569558978	chr8:96259812-96259813	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs538569455	chr8:96259821-96259822	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs368835906	chr8:96259836-96259837	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs200461815	chr8:96259838-96259839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs372201826	chr8:96259849-96259850	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs115660509	chr8:96259867-96259868	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs387907137	chr8:96259924-96259925	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs202061158	chr8:96259935-96259936	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs375314973	chr8:96259936-96259937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs387907136	chr8:96259940-96259941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs143748636	chr8:96259941-96259942	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs148114532	chr8:96259948-96259949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs143893647	chr8:96259957-96259958	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs181867049	chr8:96259988-96259989	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs561574638	chr8:96260007-96260008	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs369398498	chr8:96260011-96260012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs35181539	chr8:96260054-96260055	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs72373057	chr8:96260055-96260056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs57011161	chr8:96260069-96260070	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530711554	chr8:96260087-96260088	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs369352206	chr8:96260116-96260117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs563699421	chr8:96260136-96260137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs73266468	chr8:96260137-96260138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181564242	chr8:96260139-96260140	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs566460328	chr8:96260145-96260146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs529021802	chr8:96260181-96260182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs117779085	chr8:96260185-96260186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs569520390	chr8:96260241-96260242	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs186054571	chr8:96260242-96260243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs533422754	chr8:96260272-96260273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs191807251	chr8:96260291-96260292	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs571639080	chr8:96260318-96260319	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs181421850	chr8:96260342-96260343	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs554168417	chr8:96260360-96260361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs574029005	chr8:96260574-96260575	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs73695435	chr8:96260584-96260585	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73266470	chr8:96260638-96260639	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186431910	chr8:96260663-96260664	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs374575083	chr8:96260669-96260670	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs80034424	chr8:96260670-96260671	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs542810088	chr8:96260676-96260677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs564063498	chr8:96260721-96260722	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
5	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
6	chr8:96248400-96262200	Weak transcription	HepG2	liver
7	chr8:96249000-96280800	Weak transcription	Gastric	stomach
8	chr8:96249600-96271400	Weak transcription	Aorta	Aorta
9	chr8:96250400-96261800	Weak transcription	Spleen	Spleen
10	chr8:96250600-96280400	Weak transcription	Left Ventricle	heart
11	chr8:96251000-96271000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:96251200-96280400	Weak transcription	Psoas Muscle	Psoas
13	chr8:96251400-96259800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:96251400-96260200	Weak transcription	Primary B cells from cord blood	blood
15	chr8:96252200-96263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:96253400-96280400	Weak transcription	Esophagus	oesophagus
17	chr8:96254400-96261600	Weak transcription	Fetal Thymus	thymus
18	chr8:96255000-96263400	Weak transcription	Brain Anterior Caudate	brain
19	chr8:96255200-96268600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:96255200-96280400	Weak transcription	Fetal Brain Male	brain
21	chr8:96256400-96263600	Weak transcription	Primary T cells from cord blood	blood
22	chr8:96256800-96280400	Weak transcription	Lung	lung
23	chr8:96257000-96271400	Weak transcription	A549	lung
24	chr8:96257000-96280400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:96257400-96271000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:96257400-96271400	Weak transcription	Ovary	ovary
27	chr8:96257400-96280400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:96257600-96263600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:96257800-96265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:96257800-96280400	Weak transcription	Fetal Kidney	kidney
31	chr8:96258000-96270800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:96258000-96280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:96258200-96280400	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:96258400-96260800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:96258400-96280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:96258600-96260000	Strong transcription	Fetal Lung	lung
37	chr8:96258600-96260400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:96258800-96259800	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr8:96258800-96271400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:96259200-96260000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:96259200-96260200	Enhancers	HSMMtube	muscle
42	chr8:96259400-96263600	Weak transcription	Liver	Liver
43	chr8:96259600-96259800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr8:96259800-96260400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:96259800-96260400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:96259800-96262400	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:96260000-96263400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:96260000-96280400	Weak transcription	Fetal Lung	lung
49	chr8:96260200-96262400	Enhancers	Primary B cells from cord blood	blood
50	chr8:96260400-96260600	Enhancers	Pancreatic Islets	Pancreatic Islet

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