Variant report

Variant	nsv933100
Chromosome Location	chr8:100122965-100123831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100023368..100025355-chr8:100122244..100124287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253948	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550809181	chr8:100123102-100123103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148851194	chr8:100123125-100123126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570630157	chr8:100123179-100123180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566944225	chr8:100123196-100123197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114574908	chr8:100123246-100123247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539925987	chr8:100123269-100123270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143476147	chr8:100123284-100123285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536516156	chr8:100123308-100123309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199785370	chr8:100123309-100123310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537800077	chr8:100123314-100123315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60664170	chr8:100123317-100123318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201363767	chr8:100123356-100123357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386834100	chr8:100123371-100123372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553150517	chr8:100123435-100123436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376296532	chr8:100123454-100123455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140808736	chr8:100123456-100123457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199852353	chr8:100123546-100123547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373825518	chr8:100123565-100123566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189359714	chr8:100123585-100123586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573352342	chr8:100123671-100123672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542026765	chr8:100123731-100123732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554580177	chr8:100123790-100123791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72670283	chr8:100123824-100123825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

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
head and neck squamous cell carcinoma	19451471	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
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100090800-100126600	Weak transcription	Fetal Lung	lung
2	chr8:100091200-100137000	Weak transcription	Pancreas	Pancrea
3	chr8:100099200-100160200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:100099600-100131400	Weak transcription	Lung	lung
5	chr8:100099600-100161000	Weak transcription	Spleen	Spleen
6	chr8:100100000-100128200	Weak transcription	Fetal Stomach	stomach
7	chr8:100100400-100147400	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:100100400-100161000	Weak transcription	Esophagus	oesophagus
9	chr8:100100800-100133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:100101800-100125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:100101800-100160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:100102200-100162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:100102400-100129600	Weak transcription	Small Intestine	intestine
14	chr8:100103000-100151400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:100103400-100175600	Weak transcription	NHEK	skin
16	chr8:100103600-100160200	Weak transcription	A549	lung
17	chr8:100104000-100160200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:100104200-100141600	Weak transcription	Ovary	ovary
19	chr8:100104400-100124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:100104400-100133400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:100104400-100155200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:100104400-100160800	Weak transcription	HSMMtube	muscle
23	chr8:100104600-100133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:100104600-100153200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:100104600-100160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:100105000-100162800	Weak transcription	NHLF	lung
27	chr8:100107000-100162400	Weak transcription	Fetal Kidney	kidney
28	chr8:100107200-100160800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:100107600-100133400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:100108200-100173000	Weak transcription	Hela-S3	cervix
31	chr8:100108600-100144400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:100109200-100150200	Weak transcription	Aorta	Aorta
33	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
34	chr8:100109600-100147200	Weak transcription	Placenta	Placenta
35	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:100110000-100133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:100110400-100123000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:100110400-100126800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:100110600-100133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:100110600-100133400	Weak transcription	GM12878-XiMat	blood
41	chr8:100110800-100133400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:100111000-100133400	Weak transcription	HSMM	muscle
43	chr8:100111800-100124200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:100112000-100123000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:100112200-100147200	Weak transcription	NHDF-Ad	bronchial
46	chr8:100113200-100137000	Weak transcription	Fetal Heart	heart
47	chr8:100114600-100161000	Weak transcription	HepG2	liver
48	chr8:100115600-100132800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:100116200-100131600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:100116200-100133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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