Variant report

Variant	nsv611833
Chromosome Location	chr8:104956705-105136549
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
2	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
3	chr8:105001334..105003003-chr8:105007381..105009092,2	K562	blood:
4	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
5	chr8:104945753..104947544-chr8:104999072..105000833,2	K562	blood:
6	chr8:105001334..105003003-chr8:105007381..105009092,2	K562	blood:
7	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
8	chr21:43298446..43300680-chr8:105016509..105018812,2	MCF-7	breast:
9	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
10	chr7:104653295..104654961-chr8:105016847..105019762,2	MCF-7	breast:
11	chr15:65595403..65597555-chr8:105009307..105011419,2	MCF-7	breast:
12	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
13	chr5:134061778..134062420-chr8:105118451..105119152,2	MCF-7	breast:
14	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005483	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000141956	chromatin interactions

Extended variants
information (count: 5166 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:5166 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6983436	chr8:104956705-104956706	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547302869	chr8:104956711-104956712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75376250	chr8:104956728-104956729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527656371	chr8:104956732-104956733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552336541	chr8:104956735-104956736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369182342	chr8:104956762-104956763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76490388	chr8:104956763-104956764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142536278	chr8:104956857-104956858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180792750	chr8:104956900-104956901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568577116	chr8:104956962-104956963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185458167	chr8:104957046-104957047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56394923	chr8:104957076-104957077	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs55738203	chr8:104957101-104957102	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115217161	chr8:104957116-104957117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557480565	chr8:104957124-104957125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62527124	chr8:104957160-104957161	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189446367	chr8:104957165-104957166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561884866	chr8:104957249-104957250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56409041	chr8:104957337-104957338	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540854470	chr8:104957364-104957365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559218452	chr8:104957403-104957404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200638873	chr8:104957451-104957452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181922866	chr8:104957479-104957480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552503796	chr8:104957604-104957605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570778472	chr8:104957663-104957664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534022447	chr8:104957733-104957734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185923765	chr8:104957781-104957782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545331589	chr8:104957909-104957910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191642682	chr8:104957938-104957939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183158333	chr8:104957941-104957942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554450558	chr8:104957969-104957970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200096706	chr8:104957978-104957979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540138039	chr8:104958058-104958059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186260043	chr8:104958091-104958092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73699011	chr8:104958107-104958108	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191554870	chr8:104958151-104958152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116401388	chr8:104958181-104958182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527505038	chr8:104958210-104958211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555146008	chr8:104958254-104958255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182540901	chr8:104958291-104958292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77258923	chr8:104958318-104958319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56386117	chr8:104958336-104958337	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533030536	chr8:104958342-104958343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140756122	chr8:104958363-104958364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143288989	chr8:104958369-104958370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373475202	chr8:104958375-104958376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550197317	chr8:104958383-104958384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115913986	chr8:104958432-104958433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146839508	chr8:104958483-104958484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186822989	chr8:104958484-104958485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104939400-104959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:104948200-104965200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:104951200-104959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:104951800-104959400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:104951800-104964000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:104952000-104977000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:104952200-104960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:104952400-104960000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:104952600-104959400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:104952600-104959400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:104952800-104959600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:104954000-104959600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104955600-104969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:104958400-104960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:104959400-104959800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:104959400-104960400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr8:104959400-104961000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:104959600-104959800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr8:104959600-104960000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:104959600-104960800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:104959600-104960800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:104959800-104963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:104960000-104960400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr8:104960000-104963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:104960200-104960600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr8:104960400-104962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:104960400-104975800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:104960600-104964000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:104960800-104962600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:104960800-104967000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:104960800-104975600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:104961000-104976000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:104962600-104964400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:104962800-104963400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr8:104963000-104963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:104963000-104964600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:104963400-104963600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:104963400-104966000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:104963600-104963800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:104963600-104964000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:104963600-104964000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:104963600-104964000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr8:104963800-104964200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:104964000-104964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:104964000-104964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:104964000-104974800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:104964200-104975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:104964600-104965800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:104968200-104973200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:104969400-104974800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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