Variant report

Variant	nsv526044
Chromosome Location	chr8:119079196-119082204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119073070..119075037-chr8:119078486..119081201,2	MCF-7	breast:
2	chr8:119081594..119083586-chr8:119085175..119088517,3	MCF-7	breast:
3	chr8:119078696..119080896-chr8:119086138..119088865,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2451157	chr8:119079196-119079197	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534674915	chr8:119079237-119079238	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553365730	chr8:119079248-119079249	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568439118	chr8:119079249-119079250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2447542	chr8:119079253-119079254	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557577061	chr8:119079272-119079273	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569898247	chr8:119079324-119079325	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538478662	chr8:119079326-119079327	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546421215	chr8:119079342-119079343	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139249138	chr8:119079371-119079372	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77346112	chr8:119079379-119079380	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28357312	chr8:119079395-119079396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539828103	chr8:119079437-119079438	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188492086	chr8:119079486-119079487	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552377332	chr8:119079496-119079497	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181335609	chr8:119079533-119079534	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2514755	chr8:119079568-119079569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17505910	chr8:119079741-119079742	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532935043	chr8:119079764-119079765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551176837	chr8:119079766-119079767	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566637150	chr8:119079821-119079822	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17476965	chr8:119079822-119079823	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546673512	chr8:119079851-119079852	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568480667	chr8:119079871-119079872	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554243419	chr8:119079891-119079892	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535857015	chr8:119079952-119079953	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186860444	chr8:119079977-119079978	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569393498	chr8:119080008-119080009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191594964	chr8:119080053-119080054	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540185935	chr8:119080071-119080072	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17476972	chr8:119080078-119080079	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17476979	chr8:119080093-119080094	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183896428	chr8:119080174-119080175	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7838643	chr8:119080215-119080216	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573255409	chr8:119080218-119080219	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79613549	chr8:119080226-119080227	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543828199	chr8:119080237-119080238	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187171799	chr8:119080276-119080277	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374106846	chr8:119080327-119080328	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575508950	chr8:119080361-119080362	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62520112	chr8:119080373-119080374	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149973013	chr8:119080418-119080419	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545354279	chr8:119080455-119080456	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527579759	chr8:119080540-119080541	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7839261	chr8:119080559-119080560	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561168714	chr8:119080575-119080576	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111379322	chr8:119080591-119080592	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531761959	chr8:119080605-119080606	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17454099	chr8:119080624-119080625	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17454106	chr8:119080652-119080653	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
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
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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
3	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:119069000-119081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:119069200-119081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:119069800-119080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:119072800-119080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:119073400-119083400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:119074000-119086200	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:119074800-119079400	Weak transcription	Esophagus	oesophagus
14	chr8:119074800-119079600	Weak transcription	Stomach Mucosa	stomach
15	chr8:119074800-119086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:119075000-119079600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
19	chr8:119075400-119079200	Weak transcription	Liver	Liver
20	chr8:119075600-119080000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:119075600-119086000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:119075800-119079400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:119075800-119080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:119075800-119081200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:119075800-119081200	Weak transcription	Psoas Muscle	Psoas
26	chr8:119075800-119081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:119075800-119083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:119075800-119085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:119075800-119086200	Weak transcription	Right Atrium	heart
30	chr8:119075800-119086400	Weak transcription	Brain Anterior Caudate	brain
31	chr8:119076000-119079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:119076000-119079400	Weak transcription	Aorta	Aorta
33	chr8:119076000-119079600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:119076000-119079800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:119076000-119081200	Weak transcription	Fetal Lung	lung
36	chr8:119076000-119081200	Weak transcription	Small Intestine	intestine
37	chr8:119076000-119081200	Weak transcription	NHDF-Ad	bronchial
38	chr8:119076000-119086200	Weak transcription	Right Ventricle	heart
39	chr8:119076400-119086200	Weak transcription	Left Ventricle	heart
40	chr8:119076400-119086200	Weak transcription	Lung	lung
41	chr8:119077400-119079600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:119077400-119080600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:119077400-119082000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:119077800-119079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:119077800-119079400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:119078000-119079400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:119078000-119079400	Strong transcription	NH-A	brain
48	chr8:119078000-119079600	Enhancers	Ovary	ovary
49	chr8:119078000-119080200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:119078000-119081400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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