Variant report

Variant	nsv1030908
Chromosome Location	chr6:53920595-53931843
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:
2	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL31-3	chr6:53923720-53923768	ENSG00000235050.2
2	lnc-KLHL31-3	chr6:53922745-53922798	ENSG00000235050.2
3	lnc-KLHL31-10	chr6:53927754-53927853	NONHSAT113220
4	lnc-KLHL31-10	chr6:53927195-53927695	NONHSAT113220

No data

Extended variants
information (count: 360 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552827340	chr6:53920595-53920596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572776293	chr6:53920597-53920598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189576920	chr6:53920667-53920668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560837351	chr6:53920706-53920707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180832276	chr6:53920749-53920750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9357785	chr6:53920771-53920772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35240658	chr6:53920803-53920804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150589669	chr6:53920825-53920826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114178436	chr6:53920828-53920829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139547470	chr6:53920829-53920830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559611819	chr6:53920895-53920896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184515844	chr6:53920922-53920923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551492511	chr6:53920962-53920963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189837516	chr6:53920985-53920986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531226887	chr6:53921084-53921085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551336588	chr6:53921117-53921118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9474720	chr6:53921127-53921128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs527687943	chr6:53921128-53921129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181294055	chr6:53921137-53921138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185714853	chr6:53921147-53921148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374279541	chr6:53921164-53921165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9474721	chr6:53921165-53921166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566462179	chr6:53921215-53921216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529333152	chr6:53921231-53921232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538590251	chr6:53921294-53921295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558135894	chr6:53921321-53921322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144275721	chr6:53921331-53921332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537742939	chr6:53921338-53921339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190572371	chr6:53921352-53921353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112075268	chr6:53921357-53921358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77501716	chr6:53921384-53921385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540066906	chr6:53921385-53921386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9370259	chr6:53921406-53921407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573258319	chr6:53921461-53921462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545564516	chr6:53921475-53921476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559533869	chr6:53921477-53921478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565268803	chr6:53921494-53921495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541840818	chr6:53921512-53921513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530962601	chr6:53921518-53921519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181801171	chr6:53921607-53921608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374595212	chr6:53921629-53921630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9370260	chr6:53921674-53921675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530281874	chr6:53921677-53921678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556347869	chr6:53921695-53921696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74839797	chr6:53921730-53921731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566517027	chr6:53921761-53921762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9474722	chr6:53921784-53921785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372552089	chr6:53921790-53921791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186184634	chr6:53921833-53921834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9474723	chr6:53921895-53921896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53913600-53926000	Weak transcription	Left Ventricle	heart
2	chr6:53918000-53923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:53918800-53923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:53918800-53925200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:53919200-53924000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:53919400-53928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:53919600-53920600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:53919600-53920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:53919600-53921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:53919600-53921200	Weak transcription	Adipose Nuclei	Adipose
11	chr6:53919600-53921200	Weak transcription	Right Ventricle	heart
12	chr6:53919600-53922400	Weak transcription	Fetal Brain Male	brain
13	chr6:53919600-53922400	Weak transcription	Fetal Intestine Large	intestine
14	chr6:53919600-53923000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:53919600-53923200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:53919600-53923200	Weak transcription	Right Atrium	heart
17	chr6:53919600-53923800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:53919600-53924000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:53919600-53924400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:53919600-53924400	Weak transcription	HUVEC	blood vessel
21	chr6:53919600-53924400	Weak transcription	Osteobl	bone
22	chr6:53919600-53924600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:53919600-53924600	Weak transcription	Hela-S3	cervix
24	chr6:53919600-53924600	Weak transcription	NHLF	lung
25	chr6:53919600-53928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:53919600-53928400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:53919600-53928400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:53919800-53921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:53919800-53922000	Enhancers	Psoas Muscle	Psoas
30	chr6:53919800-53925000	Weak transcription	HSMM	muscle
31	chr6:53920000-53921000	Weak transcription	Fetal Heart	heart
32	chr6:53920600-53921400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:53920600-53922400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:53921000-53922000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:53921000-53922800	Enhancers	Fetal Heart	heart
36	chr6:53921000-53923200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:53921200-53921600	Enhancers	Right Ventricle	heart
38	chr6:53921200-53922200	Enhancers	Adipose Nuclei	Adipose
39	chr6:53921200-53924600	Enhancers	Liver	Liver
40	chr6:53921400-53926000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:53921600-53936600	Weak transcription	Right Ventricle	heart
42	chr6:53921800-53922600	Enhancers	HepG2	liver
43	chr6:53922000-53923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:53922000-53923000	Weak transcription	Psoas Muscle	Psoas
45	chr6:53922200-53928000	Weak transcription	Adipose Nuclei	Adipose
46	chr6:53922400-53922800	Enhancers	Fetal Brain Male	brain
47	chr6:53922400-53922800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:53922400-53924200	Enhancers	Fetal Intestine Large	intestine
49	chr6:53922800-53923800	Flanking Active TSS	Fetal Heart	heart
50	chr6:53922800-53924000	Enhancers	Skeletal Muscle Male	skeletal muscle

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