Variant report

Variant	nsv823859
Chromosome Location	chr6:149376042-149376695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149376456..149387248-chr6:149393069..149406749,44	MCF-7	breast:
2	chr6:149376538..149378181-chr6:149380080..149383036,2	K562	blood:
3	chr6:149373800..149377779-chr6:149379783..149384195,7	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56358125	chr6:149376045-149376046	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184504585	chr6:149376085-149376086	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7738162	chr6:149376102-149376103	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372296886	chr6:149376110-149376111	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145904976	chr6:149376111-149376112	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376036807	chr6:149376113-149376114	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76864972	chr6:149376125-149376126	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80235058	chr6:149376132-149376133	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542679910	chr6:149376174-149376175	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562463999	chr6:149376181-149376182	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138463806	chr6:149376194-149376195	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542513068	chr6:149376245-149376246	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552059338	chr6:149376273-149376274	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571812266	chr6:149376284-149376285	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527905878	chr6:149376308-149376309	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76510235	chr6:149376368-149376369	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78884932	chr6:149376373-149376374	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575447343	chr6:149376402-149376403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143040847	chr6:149376419-149376420	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74885258	chr6:149376448-149376449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541332689	chr6:149376464-149376465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78046802	chr6:149376513-149376514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570038020	chr6:149376537-149376538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10457840	chr6:149376575-149376576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189377978	chr6:149376598-149376599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145129015	chr6:149376635-149376636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181585330	chr6:149376686-149376687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564317775	chr6:149376693-149376694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:149355800-149381600	Weak transcription	Right Atrium	heart
4	chr6:149359200-149380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:149359200-149380200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:149359200-149381400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:149359200-149381400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:149359200-149381600	Weak transcription	Ovary	ovary
9	chr6:149359200-149383600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:149359400-149379200	Weak transcription	Fetal Lung	lung
11	chr6:149359600-149380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:149362600-149385200	Weak transcription	Aorta	Aorta
13	chr6:149362800-149401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:149363000-149380800	Weak transcription	Fetal Stomach	stomach
15	chr6:149363200-149394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:149367600-149380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:149368200-149380400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:149368200-149380400	Weak transcription	Spleen	Spleen
19	chr6:149368200-149381400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:149368200-149381800	Weak transcription	Small Intestine	intestine
21	chr6:149368600-149380400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:149368800-149376200	Weak transcription	Primary B cells from cord blood	blood
23	chr6:149368800-149377000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:149368800-149380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:149369000-149379200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:149369000-149382000	Weak transcription	NHDF-Ad	bronchial
27	chr6:149369000-149398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:149369200-149380600	Weak transcription	NHLF	lung
29	chr6:149370200-149380200	Weak transcription	HSMMtube	muscle
30	chr6:149370400-149376600	Weak transcription	Fetal Heart	heart
31	chr6:149371400-149396400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:149371800-149377800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:149371800-149397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:149372400-149380200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:149372800-149376800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:149372800-149380200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:149372800-149380400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:149373000-149380600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:149373800-149376400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:149374400-149381000	Enhancers	Dnd41	blood
41	chr6:149374800-149376200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:149374800-149377600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:149375000-149376200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:149375000-149376200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:149375000-149376200	Enhancers	Liver	Liver
46	chr6:149375000-149377000	Enhancers	Fetal Thymus	thymus
47	chr6:149375000-149377000	Enhancers	HepG2	liver
48	chr6:149375000-149377600	Enhancers	Pancreas	Pancrea
49	chr6:149375000-149377800	Enhancers	Primary B cells from peripheral blood	blood
50	chr6:149375200-149376200	Enhancers	Primary T helper cells fromperipheralblood	blood

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