Variant report

Variant	nsv523810
Chromosome Location	chr6:5727250-5732797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5725977..5728303-chr6:5734560..5736666,2	K562	blood:
2	chr6:5582656..5583214-chr6:5729828..5730668,2	MCF-7	breast:
3	chr6:5721926..5724566-chr6:5725553..5727803,3	K562	blood:
4	chr6:5728615..5730651-chr6:5733812..5736402,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9405868	chr6:5727250-5727251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560969209	chr6:5727272-5727273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531408589	chr6:5727321-5727322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543657941	chr6:5727360-5727361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565058250	chr6:5727445-5727446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35517140	chr6:5727448-5727449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181756329	chr6:5727514-5727515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532349881	chr6:5727519-5727520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547660249	chr6:5727522-5727523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565794056	chr6:5727541-5727542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530109091	chr6:5727568-5727569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548148582	chr6:5727602-5727603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569828535	chr6:5727650-5727651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553525190	chr6:5727658-5727659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537130892	chr6:5727667-5727668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552380060	chr6:5727672-5727673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147818268	chr6:5727713-5727714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140267513	chr6:5727726-5727727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184717875	chr6:5727727-5727728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574988488	chr6:5727731-5727732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536276369	chr6:5727828-5727829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554571264	chr6:5727836-5727837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576241136	chr6:5727850-5727851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570295045	chr6:5727886-5727887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543539694	chr6:5727887-5727888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189951679	chr6:5727911-5727912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573292500	chr6:5727946-5727947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540821354	chr6:5727950-5727951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539374899	chr6:5727957-5727958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556060339	chr6:5728035-5728036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113353733	chr6:5728049-5728050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529909227	chr6:5728063-5728064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180759194	chr6:5728066-5728067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112166862	chr6:5728131-5728132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186145564	chr6:5728134-5728135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552245385	chr6:5728165-5728166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376244757	chr6:5728201-5728202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535226893	chr6:5728211-5728212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73364225	chr6:5728221-5728222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568752454	chr6:5728223-5728224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1106811	chr6:5728245-5728246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554635162	chr6:5728252-5728253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538244162	chr6:5728269-5728270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73718394	chr6:5728279-5728280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114297675	chr6:5728280-5728281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558623001	chr6:5728333-5728334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575668954	chr6:5728380-5728381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146812471	chr6:5728382-5728383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576835572	chr6:5728406-5728407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371526536	chr6:5728471-5728472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5717400-5729000	Weak transcription	Fetal Stomach	stomach
2	chr6:5717600-5729000	Weak transcription	Fetal Lung	lung
3	chr6:5717600-5729600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:5718000-5729200	Weak transcription	NHEK	skin
5	chr6:5723000-5744200	Weak transcription	Right Ventricle	heart
6	chr6:5723800-5729000	Weak transcription	Lung	lung
7	chr6:5724200-5728000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:5724200-5729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:5724600-5727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:5724600-5728000	Weak transcription	Fetal Brain Male	brain
11	chr6:5724600-5728200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:5724600-5728800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:5724600-5729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:5724600-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:5724600-5729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:5724600-5729200	Weak transcription	NH-A	brain
17	chr6:5724800-5729200	Weak transcription	Osteobl	bone
18	chr6:5724800-5729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:5725000-5727800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:5725000-5728400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:5725000-5729000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:5725000-5729800	Enhancers	Primary B cells from cord blood	blood
23	chr6:5725000-5730000	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:5725000-5731600	Weak transcription	Colonic Mucosa	Colon
25	chr6:5725000-5737000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:5725200-5749200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:5726000-5749400	Weak transcription	Fetal Intestine Small	intestine
28	chr6:5726800-5728200	Enhancers	HSMMtube	muscle
29	chr6:5727000-5727400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:5727000-5727600	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:5727000-5727800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:5727000-5728200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:5727000-5728400	Enhancers	Fetal Thymus	thymus
34	chr6:5727000-5729200	Enhancers	HSMM	muscle
35	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:5727200-5727600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:5727200-5727600	Enhancers	Spleen	Spleen
38	chr6:5727200-5727600	Enhancers	GM12878-XiMat	blood
39	chr6:5727200-5728200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:5727200-5728400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:5727200-5729800	Enhancers	Fetal Muscle Leg	muscle
42	chr6:5727200-5731400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:5727600-5728400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:5727600-5728600	Weak transcription	GM12878-XiMat	blood
45	chr6:5727600-5729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:5727600-5729000	Weak transcription	Spleen	Spleen
47	chr6:5727600-5729200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:5727800-5728200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:5727800-5728400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:5727800-5729600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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