Variant report

Variant	nsv823458
Chromosome Location	chr6:25507434-25508001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558801838	chr6:25507437-25507438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67245361	chr6:25507440-25507441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs403453	chr6:25507500-25507501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372438395	chr6:25507527-25507528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12662568	chr6:25507577-25507578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2476824	chr6:25507584-25507585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143202965	chr6:25507600-25507601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112741173	chr6:25507601-25507602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188310469	chr6:25507610-25507611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146774678	chr6:25507618-25507619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2769701	chr6:25507624-25507625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569762427	chr6:25507626-25507627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35033684	chr6:25507639-25507640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549259765	chr6:25507744-25507745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs421502	chr6:25507764-25507765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376290	chr6:25507784-25507785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs180864925	chr6:25507785-25507786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs412384	chr6:25507798-25507799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537345724	chr6:25507808-25507809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371214437	chr6:25507827-25507828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559888652	chr6:25507842-25507843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115326808	chr6:25507862-25507863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377519962	chr6:25507879-25507880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574191905	chr6:25507885-25507886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538636057	chr6:25507926-25507927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186457366	chr6:25507987-25507988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189789903	chr6:25507988-25507989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25449400-25515800	Weak transcription	Lung	lung
2	chr6:25456400-25515800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:25456400-25537000	Weak transcription	Esophagus	oesophagus
4	chr6:25463200-25532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:25464200-25518400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:25466400-25516000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:25466800-25515800	Weak transcription	Fetal Stomach	stomach
8	chr6:25471600-25597200	Weak transcription	Gastric	stomach
9	chr6:25473600-25516000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:25480000-25511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:25480800-25523600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:25483000-25532200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:25484800-25515600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:25490400-25515800	Weak transcription	Thymus	Thymus
15	chr6:25490400-25521800	Weak transcription	GM12878-XiMat	blood
16	chr6:25490400-25543000	Weak transcription	Hela-S3	cervix
17	chr6:25490600-25524600	Weak transcription	A549	lung
18	chr6:25490800-25511600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:25490800-25515800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:25490800-25515800	Weak transcription	Ovary	ovary
21	chr6:25490800-25516400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:25490800-25521400	Weak transcription	Small Intestine	intestine
23	chr6:25491600-25521000	Weak transcription	HSMMtube	muscle
24	chr6:25494000-25515400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:25494000-25515600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:25494000-25551400	Weak transcription	Left Ventricle	heart
27	chr6:25494600-25515600	Weak transcription	Fetal Thymus	thymus
28	chr6:25495000-25515800	Weak transcription	Fetal Lung	lung
29	chr6:25495000-25516400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:25498000-25515800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:25500400-25511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:25500400-25515800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:25500400-25515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:25500400-25516000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:25500600-25515800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:25500600-25516000	Weak transcription	HMEC	breast
37	chr6:25500600-25516400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:25500600-25520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:25500600-25523800	Weak transcription	Placenta	Placenta
40	chr6:25500800-25509000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:25500800-25511200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:25500800-25516000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:25501800-25515200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:25502000-25515800	Weak transcription	Fetal Intestine Large	intestine
45	chr6:25504000-25518000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:25504200-25512800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:25505000-25515600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:25505600-25515800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:25506000-25507800	Enhancers	Brain Germinal Matrix	brain
50	chr6:25506000-25510400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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