Variant report

Variant	nsv1015151
Chromosome Location	chr8:120350491-120365637
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120361328..120364050-chr8:120365254..120366960,2	K562	blood:
2	chr8:120361328..120364050-chr8:120365254..120366960,2	K562	blood:
3	chr1:16931501..16933365-chr8:120352686..120354205,2	MCF-7	breast:
4	chr8:120361328..120363061-chr8:120365460..120367598,2	K562	blood:
5	chr2:113300762..113301271-chr8:120350227..120350748,2	MCF-7	breast:
6	chr8:120361328..120363061-chr8:120365460..120367598,2	K562	blood:
7	chr8:120276196..120276919-chr8:120365000..120365869,2	MCF-7	breast:
8	chr8:120364256..120366080-chr8:120367692..120369554,2	K562	blood:

No data

Extended variants
information (count: 584 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201628967	chr8:120350532-120350533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576335689	chr8:120350539-120350540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1031759	chr8:120350541-120350542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58653157	chr8:120350567-120350568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150656033	chr8:120350596-120350597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541238025	chr8:120350628-120350629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559657968	chr8:120350634-120350635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188805906	chr8:120350673-120350674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375782507	chr8:120350676-120350677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541540164	chr8:120350688-120350689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374635662	chr8:120350705-120350706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138892994	chr8:120350714-120350715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528450144	chr8:120350732-120350733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552552814	chr8:120350754-120350755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564374145	chr8:120350764-120350765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566967367	chr8:120350777-120350778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528354042	chr8:120350840-120350841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74421456	chr8:120350860-120350861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562929881	chr8:120350861-120350862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568132510	chr8:120350866-120350867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6991220	chr8:120350874-120350875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536779157	chr8:120350884-120350885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149264404	chr8:120350891-120350892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570070422	chr8:120350948-120350949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571127826	chr8:120351066-120351067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537042442	chr8:120351080-120351081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144504930	chr8:120351101-120351102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116373293	chr8:120351137-120351138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538523164	chr8:120351158-120351159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181322949	chr8:120351180-120351181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185975877	chr8:120351186-120351187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574920860	chr8:120351202-120351203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190639908	chr8:120351203-120351204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181783326	chr8:120351223-120351224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368619051	chr8:120351246-120351247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369943851	chr8:120351267-120351268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372653410	chr8:120351295-120351296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376697519	chr8:120351296-120351297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536283924	chr8:120351300-120351301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548485867	chr8:120351373-120351374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545823602	chr8:120351379-120351380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368772681	chr8:120351390-120351391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139598088	chr8:120351484-120351485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564035590	chr8:120351561-120351562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112915182	chr8:120351609-120351610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572896612	chr8:120351632-120351633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187655496	chr8:120351675-120351676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561950922	chr8:120351697-120351698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377506537	chr8:120351763-120351764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1599476	chr8:120351800-120351801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120349600-120375000	Weak transcription	Aorta	Aorta
2	chr8:120351000-120351400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:120355200-120355400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:120355400-120356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:120356200-120357000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:120357000-120357200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:120357200-120358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:120357400-120358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:120358400-120361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:120358600-120359800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:120361000-120362000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:120362000-120362200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:120364200-120364600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:120364600-120365800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:120364800-120366400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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