Variant report

Variant	nsv518398
Chromosome Location	chr6:5777546-5787400
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	chr13:25557368..25557868-chr6:5783697..5784353,2	K562	blood:

Extended variants
information (count: 419 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386696528	chr6:5777546-5777547	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs57845963	chr6:5777547-5777548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142992763	chr6:5777583-5777584	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536833462	chr6:5777602-5777603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115673093	chr6:5777642-5777643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576814045	chr6:5777689-5777690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537701417	chr6:5777714-5777715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181293562	chr6:5777723-5777724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201598093	chr6:5777724-5777725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561528305	chr6:5777823-5777824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577539383	chr6:5777828-5777829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544805663	chr6:5777853-5777854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371259670	chr6:5777880-5777881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560178199	chr6:5777948-5777949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114186488	chr6:5778018-5778019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542416005	chr6:5778028-5778029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560708155	chr6:5778126-5778127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185892243	chr6:5778185-5778186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs66972630	chr6:5778214-5778215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151084322	chr6:5778221-5778222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565161142	chr6:5778230-5778231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35624248	chr6:5778269-5778270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76353275	chr6:5778293-5778294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368203975	chr6:5778304-5778305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9504511	chr6:5778334-5778335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145916605	chr6:5778363-5778364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs70975925	chr6:5778370-5778371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374272399	chr6:5778371-5778372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536698889	chr6:5778388-5778389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9504513	chr6:5778435-5778436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9504514	chr6:5778673-5778674	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189776117	chr6:5778687-5778688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570231495	chr6:5778696-5778697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180973888	chr6:5778704-5778705	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17141289	chr6:5778710-5778711	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577602119	chr6:5778743-5778744	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538624964	chr6:5778788-5778789	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553441195	chr6:5778802-5778803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572115805	chr6:5778839-5778840	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112930072	chr6:5778849-5778850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552383137	chr6:5778945-5778946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560768625	chr6:5778947-5778948	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575808810	chr6:5778949-5778950	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543344451	chr6:5778951-5778952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565173801	chr6:5778962-5778963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532451058	chr6:5778965-5778966	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149829415	chr6:5778966-5778967	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187253919	chr6:5778967-5778968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530235261	chr6:5778984-5778985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548674874	chr6:5779155-5779156	Weak transcription Enhancers Strong 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:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:5765200-5778800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:5765400-5782200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:5765600-5782800	Weak transcription	Gastric	stomach
5	chr6:5765600-5783000	Weak transcription	Esophagus	oesophagus
6	chr6:5766000-5783400	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:5766000-5783400	Weak transcription	Right Atrium	heart
8	chr6:5767000-5782200	Weak transcription	Fetal Heart	heart
9	chr6:5767800-5781600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:5768200-5782400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:5769400-5781400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:5770000-5778000	Weak transcription	GM12878-XiMat	blood
13	chr6:5770000-5783000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:5770200-5782800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:5770200-5783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:5770400-5782400	Weak transcription	Right Ventricle	heart
17	chr6:5770600-5782200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:5770800-5782000	Weak transcription	Fetal Intestine Large	intestine
19	chr6:5771000-5779600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:5771400-5781000	Weak transcription	Adipose Nuclei	Adipose
21	chr6:5771600-5782400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:5771600-5782600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:5772000-5782600	Weak transcription	Colonic Mucosa	Colon
24	chr6:5772200-5783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:5772400-5782800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:5772600-5781800	Weak transcription	Left Ventricle	heart
27	chr6:5772600-5782800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:5772800-5786800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:5773400-5778800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:5773400-5782600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:5773800-5778400	Weak transcription	Primary B cells from cord blood	blood
32	chr6:5773800-5783000	Weak transcription	Brain Anterior Caudate	brain
33	chr6:5774000-5778400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:5774400-5787400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:5774800-5778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:5775000-5778200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:5775400-5777600	Enhancers	Fetal Muscle Trunk	muscle
38	chr6:5775600-5777600	Enhancers	Fetal Thymus	thymus
39	chr6:5775600-5783000	Weak transcription	Ovary	ovary
40	chr6:5776200-5782400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:5776200-5783000	Weak transcription	Pancreas	Pancrea
42	chr6:5776400-5782600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:5776400-5786800	Weak transcription	Thymus	Thymus
44	chr6:5776600-5782200	Weak transcription	Spleen	Spleen
45	chr6:5776800-5777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:5776800-5777600	Enhancers	Fetal Brain Male	brain
47	chr6:5776800-5777800	Enhancers	Fetal Brain Female	brain
48	chr6:5776800-5778800	Weak transcription	Primary T cells from cord blood	blood
49	chr6:5776800-5779200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:5776800-5782400	Weak transcription	Fetal Intestine Small	intestine

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