Variant report

Variant	nsv516648
Chromosome Location	chr6:5557149-5559059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5554838..5557346-chr6:5557615..5559842,2	K562	blood:
2	chr6:5549888..5553907-chr6:5554178..5558122,4	K562	blood:
3	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:
4	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:
5	chr6:5554838..5557346-chr6:5557615..5559842,2	K562	blood:
6	chr6:5549888..5552504-chr6:5555146..5558122,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10484312	chr6:5557149-5557150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556111715	chr6:5557182-5557183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12195090	chr6:5557210-5557211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557588985	chr6:5557259-5557260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575960413	chr6:5557265-5557266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543436962	chr6:5557304-5557305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564714025	chr6:5557335-5557336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374704326	chr6:5557336-5557337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78679882	chr6:5557350-5557351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540725895	chr6:5557353-5557354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555820948	chr6:5557366-5557367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374573388	chr6:5557413-5557414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185984477	chr6:5557424-5557425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548203845	chr6:5557470-5557471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563571445	chr6:5557509-5557510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577469415	chr6:5557523-5557524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150344172	chr6:5557551-5557552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552575686	chr6:5557557-5557558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76246095	chr6:5557583-5557584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113130198	chr6:5557607-5557608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142446977	chr6:5557715-5557716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568677202	chr6:5557760-5557761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76519142	chr6:5557774-5557775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557388618	chr6:5557820-5557821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575930189	chr6:5557845-5557846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190698735	chr6:5557903-5557904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6909169	chr6:5557914-5557915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183115033	chr6:5557934-5557935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4960099	chr6:5557960-5557961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540737944	chr6:5557988-5557989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62387183	chr6:5558018-5558019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145983906	chr6:5558025-5558026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578241004	chr6:5558034-5558035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138505261	chr6:5558092-5558093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186364746	chr6:5558095-5558096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191607669	chr6:5558107-5558108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564474490	chr6:5558123-5558124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9405847	chr6:5558173-5558174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs182532889	chr6:5558187-5558188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368620081	chr6:5558217-5558218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547082297	chr6:5558278-5558279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78098420	chr6:5558283-5558284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62387184	chr6:5558293-5558294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569350055	chr6:5558371-5558372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73358247	chr6:5558416-5558417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12201749	chr6:5558428-5558429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570129893	chr6:5558442-5558443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534292293	chr6:5558461-5558462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116163565	chr6:5558496-5558497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574226539	chr6:5558509-5558510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
2	chr6:5538000-5573600	Weak transcription	Left Ventricle	heart
3	chr6:5545400-5560000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:5550800-5563400	Weak transcription	Pancreas	Pancrea
5	chr6:5550800-5564600	Weak transcription	Dnd41	blood
6	chr6:5551000-5566000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:5551000-5566200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:5551600-5575200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:5552400-5564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:5553200-5567800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:5555000-5557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:5555000-5564600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:5555200-5563400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:5555600-5563400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:5557400-5557800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:5557600-5558600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:5557800-5563400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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