Variant report

Variant	nsv890337
Chromosome Location	chr8:8517919-8542718
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8527797..8529806-chr8:8592444..8595839,3	MCF-7	breast:
2	chr8:8455617..8458254-chr8:8522777..8525195,2	MCF-7	breast:
3	chr8:8241176..8241736-chr8:8524635..8525188,2	MCF-7	breast:
4	chr8:8467892..8470018-chr8:8516521..8519296,2	MCF-7	breast:
5	chr8:8517125..8519695-chr8:8524278..8527180,2	MCF-7	breast:
6	chr8:8528173..8528908-chr8:8567698..8568456,2	MCF-7	breast:
7	chr8:8105365..8106008-chr8:8526894..8527465,2	K562	blood:
8	chr8:8538997..8539534-chr8:8594174..8595039,2	MCF-7	breast:
9	chr8:8129344..8132133-chr8:8525629..8527896,2	MCF-7	breast:
10	chr8:8527839..8528754-chr8:8592246..8592999,2	K562	blood:
11	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:
12	chr8:8536305..8538108-chr8:8559326..8560913,2	MCF-7	breast:
13	chr8:8527857..8528805-chr8:9688247..9689065,2	K562	blood:
14	chr8:8105578..8107200-chr8:8525517..8527239,2	MCF-7	breast:
15	chr8:8521708..8523657-chr8:8525463..8527209,2	MCF-7	breast:
16	chr8:8527332..8529283-chr8:8594084..8595110,9	K562	blood:
17	chr8:8130322..8131342-chr8:8527334..8528198,3	MCF-7	breast:
18	chr8:8242334..8244521-chr8:8525850..8528752,3	MCF-7	breast:
19	chr8:8528265..8529882-chr8:8531395..8534062,2	MCF-7	breast:
20	chr8:8517125..8519695-chr8:8524278..8527180,2	MCF-7	breast:
21	chr8:8527809..8528658-chr8:8569477..8570252,2	MCF-7	breast:
22	chr8:8527493..8529178-chr8:8594079..8595134,11	MCF-7	breast:
23	chr8:8521708..8523657-chr8:8525463..8527209,2	MCF-7	breast:
24	chr8:8532775..8534463-chr8:8543028..8544705,2	MCF-7	breast:
25	chr8:8105059..8106011-chr8:8526943..8527953,6	MCF-7	breast:
26	chr8:8528265..8529882-chr8:8531395..8534062,2	MCF-7	breast:
27	chr8:8100996..8102500-chr8:8519564..8521241,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176305	chromatin interactions
ENSG00000182319	chromatin interactions
ENSG00000253958	chromatin interactions
ENSG00000253981	chromatin interactions

Extended variants
information (count: 1414 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1414 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1522838	chr8:8517919-8517920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556092247	chr8:8517924-8517925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572626856	chr8:8517926-8517927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77699089	chr8:8517928-8517929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142308917	chr8:8517943-8517944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578048688	chr8:8517970-8517971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543466838	chr8:8517974-8517975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563354285	chr8:8517976-8517977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529244019	chr8:8517993-8517994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541771487	chr8:8517994-8517995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561813676	chr8:8518002-8518003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527515711	chr8:8518019-8518020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181402176	chr8:8518051-8518052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185422825	chr8:8518088-8518089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377112660	chr8:8518101-8518102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532298686	chr8:8518126-8518127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190678280	chr8:8518138-8518139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182889114	chr8:8518171-8518172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544887642	chr8:8518178-8518179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28889892	chr8:8518180-8518181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535417341	chr8:8518307-8518308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187229851	chr8:8518308-8518309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566256974	chr8:8518319-8518320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535296289	chr8:8518337-8518338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558073312	chr8:8518363-8518364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578094941	chr8:8518434-8518435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543552875	chr8:8518454-8518455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78155311	chr8:8518457-8518458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35199331	chr8:8518467-8518468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80195953	chr8:8518501-8518502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192010790	chr8:8518557-8518558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116359698	chr8:8518565-8518566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543414068	chr8:8518568-8518569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375348885	chr8:8518581-8518582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143742038	chr8:8518594-8518595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386721985	chr8:8518596-8518597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565607487	chr8:8518597-8518598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58820243	chr8:8518601-8518602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187687862	chr8:8518610-8518611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28760279	chr8:8518625-8518626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192667606	chr8:8518627-8518628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549927019	chr8:8518645-8518646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569752234	chr8:8518672-8518673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184318414	chr8:8518693-8518694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548723916	chr8:8518725-8518726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540717947	chr8:8518744-8518745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565622817	chr8:8518754-8518755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559225896	chr8:8518775-8518776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535017570	chr8:8518777-8518778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187172073	chr8:8518784-8518785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8506800-8522000	Weak transcription	Right Atrium	heart
2	chr8:8508000-8522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:8513400-8518600	Weak transcription	Gastric	stomach
4	chr8:8513600-8518200	Weak transcription	Stomach Mucosa	stomach
5	chr8:8514000-8521600	Weak transcription	Fetal Brain Male	brain
6	chr8:8514200-8527000	Weak transcription	Fetal Kidney	kidney
7	chr8:8515000-8521600	Weak transcription	A549	lung
8	chr8:8515800-8521400	Weak transcription	Placenta	Placenta
9	chr8:8516800-8518200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:8518200-8518600	Enhancers	Stomach Mucosa	stomach
11	chr8:8518600-8518800	Enhancers	Gastric	stomach
12	chr8:8519600-8520800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:8519600-8521000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:8520000-8520800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:8520600-8520800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:8520600-8522800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:8520800-8522000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:8520800-8522800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:8521000-8524800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:8521000-8525000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:8521400-8521600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:8521400-8522200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:8521400-8522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:8521400-8522800	Enhancers	NHLF	lung
25	chr8:8521400-8523200	Enhancers	Placenta	Placenta
26	chr8:8521600-8522000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:8521600-8522000	Enhancers	Osteobl	bone
28	chr8:8521600-8522200	Enhancers	HSMMtube	muscle
29	chr8:8521600-8522200	Enhancers	NH-A	brain
30	chr8:8521600-8522400	Enhancers	Fetal Lung	lung
31	chr8:8521600-8522600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:8521600-8522600	Flanking Active TSS	A549	lung
33	chr8:8521600-8522800	Enhancers	Hela-S3	cervix
34	chr8:8521600-8523000	Bivalent Enhancer	Fetal Heart	heart
35	chr8:8521600-8523600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:8521600-8523600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:8521600-8524600	Enhancers	Fetal Brain Male	brain
38	chr8:8521600-8525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:8521800-8522000	Enhancers	Brain Anterior Caudate	brain
40	chr8:8521800-8522200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:8521800-8522200	Enhancers	HepG2	liver
42	chr8:8521800-8522400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:8521800-8522400	Enhancers	HMEC	breast
44	chr8:8521800-8523400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:8521800-8523400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:8521800-8523600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:8522000-8522200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:8522000-8522200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:8522000-8522200	Enhancers	Brain Germinal Matrix	brain
50	chr8:8522000-8522200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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