Variant report

Variant	nsv523206
Chromosome Location	chr6:5708306-5710257
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	chr6:5704687..5707322-chr6:5708946..5711451,2	K562	blood:
2	chr6:5704009..5705520-chr6:5708074..5709705,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6597159	chr6:5708306-5708307	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543981297	chr6:5708358-5708359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28485868	chr6:5708540-5708541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142104038	chr6:5708552-5708553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9405864	chr6:5708565-5708566	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150738262	chr6:5708577-5708578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547974301	chr6:5708613-5708614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546311125	chr6:5708653-5708654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113203610	chr6:5708709-5708710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181521719	chr6:5708711-5708712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11757961	chr6:5708735-5708736	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566951738	chr6:5708780-5708781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7756967	chr6:5708793-5708794	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549649240	chr6:5708815-5708816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186167911	chr6:5708832-5708833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188533790	chr6:5708902-5708903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553950903	chr6:5708909-5708910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35380782	chr6:5708949-5708950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79850101	chr6:5708951-5708952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536581456	chr6:5708953-5708954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147563849	chr6:5709004-5709005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527938277	chr6:5709045-5709046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576547765	chr6:5709047-5709048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543847732	chr6:5709085-5709086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142638551	chr6:5709086-5709087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144968261	chr6:5709111-5709112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547271655	chr6:5709112-5709113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181299976	chr6:5709156-5709157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145683194	chr6:5709213-5709214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559930583	chr6:5709259-5709260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530209133	chr6:5709279-5709280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185775200	chr6:5709316-5709317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191022709	chr6:5709317-5709318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563628209	chr6:5709325-5709326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7740727	chr6:5709336-5709337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376808512	chr6:5709356-5709357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78657631	chr6:5709358-5709359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571124048	chr6:5709382-5709383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563921474	chr6:5709406-5709407	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532270303	chr6:5709414-5709415	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547157589	chr6:5709493-5709494	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547737330	chr6:5709517-5709518	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142685716	chr6:5709519-5709520	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60913017	chr6:5709570-5709571	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145805941	chr6:5709571-5709572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182741461	chr6:5709650-5709651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58839612	chr6:5709742-5709743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187336176	chr6:5709747-5709748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191001701	chr6:5709767-5709768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149241969	chr6:5709775-5709776	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
3	chr6:5695800-5709800	Weak transcription	Fetal Stomach	stomach
4	chr6:5696200-5712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:5699400-5713200	Weak transcription	Esophagus	oesophagus
6	chr6:5699800-5715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:5701800-5708600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:5702400-5709400	Weak transcription	Fetal Lung	lung
9	chr6:5704200-5712600	Weak transcription	Lung	lung
10	chr6:5704400-5709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:5705000-5716600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:5706000-5712200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:5706200-5712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:5706600-5716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:5707000-5710200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:5707000-5712600	Weak transcription	Aorta	Aorta
17	chr6:5707000-5714400	Enhancers	Fetal Thymus	thymus
18	chr6:5707600-5724000	Weak transcription	Thymus	Thymus
19	chr6:5708000-5711600	Weak transcription	Primary T cells from cord blood	blood
20	chr6:5708200-5709000	Strong transcription	Primary B cells from cord blood	blood
21	chr6:5708600-5709000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:5709000-5710800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:5709000-5712400	Weak transcription	Primary B cells from cord blood	blood
24	chr6:5709400-5709600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:5709400-5709600	Enhancers	Pancreas	Pancrea
26	chr6:5709400-5710600	Enhancers	Fetal Lung	lung
27	chr6:5709600-5710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:5710200-5711000	Enhancers	Fetal Muscle Trunk	muscle

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