Variant report

Variant	nsv883420
Chromosome Location	chr6:5524393-5584422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5549888..5552504-chr6:5555146..5558122,2	K562	blood:
2	chr6:5549888..5553907-chr6:5554178..5558122,4	K562	blood:
3	chr6:5582656..5583214-chr6:5729828..5730668,2	MCF-7	breast:
4	chr6:5549888..5552504-chr6:5555146..5558122,2	K562	blood:
5	chr6:5554838..5557346-chr6:5557615..5559842,2	K562	blood:
6	chr6:5579091..5581648-chr6:5587396..5590119,2	K562	blood:
7	chr6:5571772..5574003-chr6:5575874..5578608,2	MCF-7	breast:
8	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:
9	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:
10	chr6:5549888..5553907-chr6:5554178..5558122,4	K562	blood:
11	chr6:5554838..5557346-chr6:5557615..5559842,2	K562	blood:
12	chr6:5571772..5574003-chr6:5575874..5578608,2	MCF-7	breast:

No data

Extended variants
information (count: 2462 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2462 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9405273	chr6:5524393-5524394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376335859	chr6:5524412-5524413	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116261391	chr6:5524417-5524418	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78163041	chr6:5524469-5524470	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551019301	chr6:5524482-5524483	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77465845	chr6:5524514-5524515	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190112483	chr6:5524619-5524620	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566690326	chr6:5524628-5524629	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114597177	chr6:5524687-5524688	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143176352	chr6:5524772-5524773	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376869561	chr6:5524800-5524801	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2038029	chr6:5524811-5524812	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575641667	chr6:5524878-5524879	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371870444	chr6:5524888-5524889	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146868682	chr6:5524908-5524909	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375046844	chr6:5524940-5524941	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556569618	chr6:5524954-5524955	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111268545	chr6:5524964-5524965	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578156607	chr6:5525053-5525054	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545518207	chr6:5525080-5525081	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553954029	chr6:5525220-5525221	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572648150	chr6:5525231-5525232	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542846837	chr6:5525279-5525280	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373637477	chr6:5525298-5525299	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs192862798	chr6:5525319-5525320	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531840628	chr6:5525344-5525345	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73719629	chr6:5525368-5525369	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562108516	chr6:5525382-5525383	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532748455	chr6:5525410-5525411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551479013	chr6:5525420-5525421	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs149183608	chr6:5525426-5525427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35559770	chr6:5525434-5525435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs386405995	chr6:5525435-5525436	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566441670	chr6:5525442-5525443	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113824303	chr6:5525475-5525476	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527521580	chr6:5525553-5525554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548863450	chr6:5525643-5525644	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567569560	chr6:5525645-5525646	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367773656	chr6:5525670-5525671	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544336037	chr6:5525687-5525688	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117151882	chr6:5525688-5525689	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550085812	chr6:5525720-5525721	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530101837	chr6:5525734-5525735	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77590572	chr6:5525740-5525741	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538654527	chr6:5525761-5525762	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554284804	chr6:5525776-5525777	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184846752	chr6:5525802-5525803	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189302391	chr6:5525823-5525824	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536859387	chr6:5525830-5525831	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9392690	chr6:5525843-5525844	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5500400-5525000	Weak transcription	Spleen	Spleen
2	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
3	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:5509000-5524400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5509600-5527400	Weak transcription	Lung	lung
6	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
8	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
9	chr6:5512600-5524800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:5512600-5525200	Weak transcription	HSMMtube	muscle
11	chr6:5514000-5537400	Weak transcription	Left Ventricle	heart
12	chr6:5516200-5525800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:5518600-5550000	Weak transcription	Right Ventricle	heart
14	chr6:5521400-5525600	Weak transcription	HMEC	breast
15	chr6:5521800-5525200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:5522200-5524400	Weak transcription	Fetal Heart	heart
17	chr6:5522600-5531400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:5522600-5544600	Weak transcription	Ovary	ovary
19	chr6:5522600-5548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:5522800-5550400	Weak transcription	GM12878-XiMat	blood
21	chr6:5523000-5549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:5523400-5531200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:5523600-5531400	Weak transcription	Fetal Thymus	thymus
24	chr6:5524400-5525200	Strong transcription	Primary B cells from cord blood	blood
25	chr6:5524400-5526000	Enhancers	Fetal Heart	heart
26	chr6:5524600-5525800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:5524600-5525800	Enhancers	Brain Substantia Nigra	brain
28	chr6:5524800-5525000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:5524800-5525200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:5524800-5525400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:5524800-5525400	Enhancers	Brain Hippocampus Middle	brain
32	chr6:5524800-5525800	Enhancers	Brain Anterior Caudate	brain
33	chr6:5524800-5526200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:5524800-5526400	Enhancers	NHDF-Ad	bronchial
35	chr6:5525000-5525200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:5525000-5525200	Enhancers	Spleen	Spleen
37	chr6:5525000-5525200	Enhancers	Osteobl	bone
38	chr6:5525000-5525400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:5525000-5525400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:5525000-5525600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:5525000-5525800	Enhancers	Fetal Muscle Leg	muscle
42	chr6:5525000-5526000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:5525000-5526200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:5525000-5526200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:5525000-5526400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:5525200-5525400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr6:5525200-5525600	Enhancers	Adipose Nuclei	Adipose
48	chr6:5525200-5525600	Flanking Active TSS	Osteobl	bone
49	chr6:5525200-5525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:5525200-5525800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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