Variant report

Variant	nsv969347
Chromosome Location	chr6:5757580-5774327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5747398..5750144-chr6:5756400..5758894,2	K562	blood:
2	chr6:5771572..5773487-chr6:5775272..5776999,2	K562	blood:
3	chr6:5471461..5471990-chr6:5766502..5767102,2	K562	blood:
4	chr6:5742971..5744630-chr6:5761560..5764048,2	K562	blood:
5	chr6:5765933..5768919-chr6:5770030..5772531,2	K562	blood:
6	chr6:5770963..5772659-chr6:5773968..5776144,2	MCF-7	breast:
7	chr6:5770963..5772659-chr6:5773968..5776144,2	MCF-7	breast:
8	chr6:5765933..5768919-chr6:5770030..5772531,2	K562	blood:

Extended variants
information (count: 629 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549129624	chr6:5757592-5757593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112192727	chr6:5757593-5757594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537687644	chr6:5757611-5757612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140620367	chr6:5757648-5757649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2326673	chr6:5757650-5757651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs201858492	chr6:5757686-5757687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574944812	chr6:5757696-5757697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199934584	chr6:5757702-5757703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114165045	chr6:5757814-5757815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553750584	chr6:5757843-5757844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114630748	chr6:5757849-5757850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542588513	chr6:5757856-5757857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111963861	chr6:5757889-5757890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540835044	chr6:5757902-5757903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576118706	chr6:5757925-5757926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543701097	chr6:5757950-5757951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116935174	chr6:5757962-5757963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532554470	chr6:5757990-5757991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374065267	chr6:5758004-5758005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541724727	chr6:5758047-5758048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78289029	chr6:5758048-5758049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189811416	chr6:5758087-5758088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548992815	chr6:5758088-5758089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567418513	chr6:5758162-5758163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531439015	chr6:5758186-5758187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181031311	chr6:5758192-5758193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571435649	chr6:5758229-5758230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187120045	chr6:5758235-5758236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553677447	chr6:5758276-5758277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60003216	chr6:5758410-5758411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536285163	chr6:5758416-5758417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59058623	chr6:5758444-5758445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79223444	chr6:5758447-5758448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192400598	chr6:5758459-5758460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150334784	chr6:5758463-5758464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373720379	chr6:5758468-5758469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537561645	chr6:5758546-5758547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183305535	chr6:5758549-5758550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374169226	chr6:5758562-5758563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563169431	chr6:5758569-5758570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368179372	chr6:5758584-5758585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573656250	chr6:5758617-5758618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575966464	chr6:5758624-5758625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187419459	chr6:5758637-5758638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151206015	chr6:5758651-5758652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57418738	chr6:5758668-5758669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542495324	chr6:5758714-5758715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560879314	chr6:5758724-5758725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531176706	chr6:5758738-5758739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561452627	chr6:5758740-5758741	Weak transcription	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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:5753400-5761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:5753400-5764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:5754600-5757600	Weak transcription	Psoas Muscle	Psoas
6	chr6:5754600-5761000	Weak transcription	Right Ventricle	heart
7	chr6:5754600-5762600	Weak transcription	Aorta	Aorta
8	chr6:5754600-5763200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:5754600-5764800	Weak transcription	Gastric	stomach
10	chr6:5754600-5771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:5754800-5767200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:5754800-5771000	Weak transcription	Pancreas	Pancrea
13	chr6:5755000-5775600	Weak transcription	Thymus	Thymus
14	chr6:5755200-5761400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:5755200-5761400	Weak transcription	Osteobl	bone
16	chr6:5756400-5763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:5756400-5771200	Weak transcription	Primary T cells from cord blood	blood
18	chr6:5756600-5760000	Weak transcription	Primary B cells from cord blood	blood
19	chr6:5756600-5760400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:5757000-5758000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:5757600-5758000	Enhancers	Psoas Muscle	Psoas
22	chr6:5758000-5761200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:5758000-5764200	Weak transcription	Psoas Muscle	Psoas
24	chr6:5758400-5764600	Weak transcription	Lung	lung
25	chr6:5760000-5760200	Strong transcription	Primary B cells from cord blood	blood
26	chr6:5760000-5766600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:5760200-5760800	Weak transcription	Primary B cells from cord blood	blood
28	chr6:5760400-5771400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:5760800-5761000	Strong transcription	Primary B cells from cord blood	blood
30	chr6:5760800-5761000	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:5760800-5761400	Enhancers	Fetal Brain Male	brain
32	chr6:5761000-5761800	Enhancers	Left Ventricle	heart
33	chr6:5761000-5761800	Enhancers	Right Atrium	heart
34	chr6:5761000-5761800	Enhancers	Right Ventricle	heart
35	chr6:5761000-5764200	Weak transcription	Primary B cells from cord blood	blood
36	chr6:5761200-5764200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:5761200-5764600	Weak transcription	Fetal Stomach	stomach
38	chr6:5761400-5761800	Weak transcription	Fetal Brain Male	brain
39	chr6:5761400-5762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:5761400-5762600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:5761400-5762600	Enhancers	Osteobl	bone
42	chr6:5761400-5764600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:5761600-5761800	Enhancers	Brain Substantia Nigra	brain
44	chr6:5761600-5762400	Enhancers	Brain Anterior Caudate	brain
45	chr6:5761600-5762400	Enhancers	Fetal Kidney	kidney
46	chr6:5761600-5764200	Enhancers	Fetal Heart	heart
47	chr6:5761600-5764800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:5761800-5763000	Weak transcription	Left Ventricle	heart
49	chr6:5761800-5763000	Weak transcription	Right Atrium	heart
50	chr6:5761800-5763000	Weak transcription	Right Ventricle	heart

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