Variant report

Variant	nsv470212
Chromosome Location	chr8:51176635-51227506
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:51194558..51197541-chr8:51202196..51204695,2	MCF-7	breast:
2	chr8:51187159..51189399-chr8:51189828..51191872,2	MCF-7	breast:
3	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:
4	chr8:51187159..51189399-chr8:51189828..51191872,2	MCF-7	breast:
5	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:
6	chr8:51194558..51197541-chr8:51202196..51204695,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-15	chr8:51199098-51199413	NONHSAT126524

No data

Extended variants
information (count: 1125 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552931141	chr8:51192233-51192234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188885221	chr8:51192251-51192252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148777773	chr8:51192281-51192282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563920663	chr8:51192288-51192289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575704756	chr8:51192289-51192290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542370581	chr8:51192430-51192431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555090969	chr8:51192435-51192436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543205133	chr8:51192469-51192470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561468474	chr8:51192482-51192483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181683265	chr8:51192504-51192505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187378422	chr8:51192509-51192510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564847062	chr8:51192512-51192513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532262516	chr8:51192523-51192524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11987370	chr8:51192524-51192525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568370237	chr8:51192538-51192539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570054477	chr8:51192552-51192553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142395166	chr8:51192583-51192584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548356113	chr8:51192695-51192696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566461722	chr8:51192703-51192704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533811126	chr8:51192709-51192710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552969785	chr8:51192711-51192712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529930764	chr8:51192742-51192743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577579162	chr8:51192755-51192756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373318123	chr8:51192761-51192762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557222843	chr8:51192805-51192806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191980195	chr8:51192844-51192845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542889740	chr8:51192898-51192899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561511273	chr8:51192908-51192909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180714820	chr8:51192911-51192912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186019506	chr8:51192931-51192932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564883585	chr8:51192942-51192943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377369811	chr8:51192946-51192947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532097457	chr8:51192948-51192949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370758243	chr8:51192959-51192960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562484304	chr8:51193035-51193036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529780284	chr8:51193095-51193096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78402521	chr8:51193123-51193124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75926954	chr8:51193144-51193145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533848772	chr8:51193179-51193180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77136667	chr8:51193193-51193194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570413227	chr8:51193218-51193219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552177299	chr8:51193275-51193276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562551904	chr8:51193292-51193293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538699477	chr8:51193329-51193330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557310828	chr8:51193337-51193338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112065891	chr8:51193338-51193339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531188210	chr8:51193339-51193340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374957719	chr8:51193440-51193441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535716560	chr8:51193454-51193455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536722411	chr8:51193484-51193485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Type 1 diabetes	21085585	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51192200-51192800	Enhancers	Liver	Liver
2	chr8:51192200-51194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:51193600-51195000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:51194200-51194400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:51198600-51200600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:51198800-51199200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:51198800-51199400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:51198800-51200000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:51198800-51200200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:51198800-51200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:51199000-51199200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:51199200-51200000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:51199200-51200800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:51199400-51199800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:51199400-51200400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:51199600-51200400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:51199800-51200200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:51199800-51200200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:51200000-51200200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:51200000-51200200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:51200000-51200400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:51200000-51200800	Enhancers	Adipose Nuclei	Adipose
23	chr8:51200200-51202600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:51200800-51201200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:51201200-51202000	Enhancers	Adipose Nuclei	Adipose
26	chr8:51201800-51202000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:51201800-51202800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:51202000-51202200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:51202600-51202800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:51206200-51206600	Enhancers	Fetal Intestine Large	intestine
31	chr8:51206200-51207600	Enhancers	Fetal Intestine Small	intestine
32	chr8:51206600-51207000	Weak transcription	Fetal Intestine Large	intestine
33	chr8:51206600-51207600	Enhancers	Liver	Liver
34	chr8:51207000-51207600	Enhancers	Fetal Intestine Large	intestine
35	chr8:51207200-51208800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:51208800-51209400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:51209400-51220600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:51220600-51221000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:51220600-51221000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:51220600-51221200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:51221000-51223400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:51221000-51223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:51221200-51223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:51221800-51222200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:51221800-51222400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:51223400-51224200	Enhancers	Brain Germinal Matrix	brain
47	chr8:51223400-51224800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:51223400-51225000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:51223600-51224400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:51223800-51224600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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