Variant report

Variant	nsv522403
Chromosome Location	chr6:150947524-150950215
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	chr6:150947452..150949419-chr6:150952657..150955576,2	MCF-7	breast:
2	chr6:150944124..150946424-chr6:150947908..150950533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224029	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12527099	chr6:150947524-150947525	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62434100	chr6:150947540-150947541	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145547320	chr6:150947541-150947542	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573980185	chr6:150947552-150947553	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9397340	chr6:150947575-150947576	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs148882295	chr6:150947577-150947578	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145517310	chr6:150947595-150947596	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562657847	chr6:150947603-150947604	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138119759	chr6:150947606-150947607	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201923484	chr6:150947639-150947640	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554300895	chr6:150947640-150947641	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17422247	chr6:150947644-150947645	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551534945	chr6:150947645-150947646	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62434101	chr6:150947647-150947648	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141163526	chr6:150947650-150947651	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181164959	chr6:150947653-150947654	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544949322	chr6:150947691-150947692	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527967988	chr6:150947710-150947711	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62434102	chr6:150947717-150947718	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527543126	chr6:150947787-150947788	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547206519	chr6:150947788-150947789	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561111159	chr6:150947805-150947806	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529399844	chr6:150947813-150947814	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549444128	chr6:150947846-150947847	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569194732	chr6:150947848-150947849	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538238118	chr6:150947867-150947868	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551751105	chr6:150947887-150947888	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571977593	chr6:150947965-150947966	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534458115	chr6:150947966-150947967	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554093361	chr6:150947987-150947988	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567105859	chr6:150948025-150948026	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529704733	chr6:150948039-150948040	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574155390	chr6:150948073-150948074	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535998017	chr6:150948086-150948087	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556220553	chr6:150948131-150948132	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35008204	chr6:150948138-150948139	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186779022	chr6:150948139-150948140	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144965739	chr6:150948140-150948141	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191678036	chr6:150948145-150948146	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9384569	chr6:150948163-150948164	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572033142	chr6:150948175-150948176	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541298349	chr6:150948183-150948184	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557359970	chr6:150948220-150948221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182863485	chr6:150948221-150948222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11344741	chr6:150948222-150948223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529893427	chr6:150948235-150948236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569790306	chr6:150948300-150948301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549253670	chr6:150948303-150948304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376323844	chr6:150948366-150948367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562999571	chr6:150948504-150948505	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Developmental delay	21147756	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150928400-150952800	Weak transcription	Right Ventricle	heart
2	chr6:150928600-150948800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:150939000-150949600	Weak transcription	Pancreas	Pancrea
4	chr6:150939000-150954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:150939800-150948600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:150940800-150948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:150941200-150953000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:150941800-150954000	Weak transcription	Brain Angular Gyrus	brain
9	chr6:150941800-150962600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:150942000-150949600	Weak transcription	Colonic Mucosa	Colon
11	chr6:150942000-150949600	Weak transcription	Gastric	stomach
12	chr6:150942200-150948800	Weak transcription	Stomach Mucosa	stomach
13	chr6:150942400-150948000	Weak transcription	Small Intestine	intestine
14	chr6:150942600-150948000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:150944600-150948000	Weak transcription	Liver	Liver
16	chr6:150944800-150948200	Genic enhancers	Fetal Thymus	thymus
17	chr6:150945000-150947600	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:150945000-150948000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:150945000-150948000	Weak transcription	HUVEC	blood vessel
20	chr6:150945000-150950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:150945000-150954200	Weak transcription	Aorta	Aorta
22	chr6:150945200-150947600	Weak transcription	Adipose Nuclei	Adipose
23	chr6:150945200-150947600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:150945400-150947600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:150945400-150947600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:150945600-150948000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:150945600-150950000	Weak transcription	Lung	lung
28	chr6:150945800-150948400	Enhancers	Primary B cells from cord blood	blood
29	chr6:150945800-150948400	Weak transcription	Primary T cells from cord blood	blood
30	chr6:150946400-150948200	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr6:150947000-150947600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:150947200-150948000	Enhancers	Spleen	Spleen
33	chr6:150947200-150948200	Genic enhancers	Thymus	Thymus
34	chr6:150947200-150953400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:150947400-150947800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:150947400-150947800	Enhancers	Placenta	Placenta
37	chr6:150947400-150947800	Enhancers	Left Ventricle	heart
38	chr6:150947400-150948000	Enhancers	Right Atrium	heart
39	chr6:150947400-150948400	Weak transcription	Fetal Brain Female	brain
40	chr6:150947400-150949600	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:150947400-150950400	Enhancers	Fetal Intestine Large	intestine
42	chr6:150947400-150950400	Enhancers	Fetal Kidney	kidney
43	chr6:150947400-150950400	Enhancers	Fetal Lung	lung
44	chr6:150947400-150950400	Enhancers	Fetal Stomach	stomach
45	chr6:150947400-150950400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:150947400-150950400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:150947600-150948200	Enhancers	Fetal Muscle Trunk	muscle
48	chr6:150947600-150948200	Enhancers	Fetal Muscle Leg	muscle
49	chr6:150947600-150948400	Enhancers	Fetal Heart	heart
50	chr6:150947600-150949600	Enhancers	Adipose Nuclei	Adipose

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