Variant report

Variant	nsv528105
Chromosome Location	chr6:45826639-45840604
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	chr6:45826333..45828621-chr6:45834716..45836937,2	K562	blood:
2	chr6:45826333..45828621-chr6:45834716..45836937,2	K562	blood:

Extended variants
information (count: 391 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:391 , 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	rs4714882	chr6:45826639-45826640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550734890	chr6:45826655-45826656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569226442	chr6:45826689-45826690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533568622	chr6:45826743-45826744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534758226	chr6:45826776-45826777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530314745	chr6:45826787-45826788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554941990	chr6:45826788-45826789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140682871	chr6:45826942-45826943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374304129	chr6:45826943-45826944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114388247	chr6:45826976-45826977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76807279	chr6:45827018-45827019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376117087	chr6:45827040-45827041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183236567	chr6:45827078-45827079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187213511	chr6:45827102-45827103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562415117	chr6:45827123-45827124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147208205	chr6:45827160-45827161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367760236	chr6:45827163-45827164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542554526	chr6:45827226-45827227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79323362	chr6:45827250-45827251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371508985	chr6:45827257-45827258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572759502	chr6:45827264-45827265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539797282	chr6:45827291-45827292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564661908	chr6:45827306-45827307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191928481	chr6:45827317-45827318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183027496	chr6:45827337-45827338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562723242	chr6:45827364-45827365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374466471	chr6:45827396-45827397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548595521	chr6:45827401-45827402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117001390	chr6:45827442-45827443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527703679	chr6:45827457-45827458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115524411	chr6:45827465-45827466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11965083	chr6:45827480-45827481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550839750	chr6:45827545-45827546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114433280	chr6:45827576-45827577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148674680	chr6:45827583-45827584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552437302	chr6:45827599-45827600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527370617	chr6:45827603-45827604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554570110	chr6:45827609-45827610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75857901	chr6:45827637-45827638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533559518	chr6:45827659-45827660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558115790	chr6:45827678-45827679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142164338	chr6:45827694-45827695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151178718	chr6:45827697-45827698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60146555	chr6:45827704-45827705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574935042	chr6:45827705-45827706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187525004	chr6:45827709-45827710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560635409	chr6:45827731-45827732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192978563	chr6:45827745-45827746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556949076	chr6:45827747-45827748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552629802	chr6:45827805-45827806	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45826400-45826800	Enhancers	Fetal Stomach	stomach
2	chr6:45826600-45826800	Weak transcription	Brain Germinal Matrix	brain
3	chr6:45826800-45827600	Weak transcription	Fetal Stomach	stomach
4	chr6:45827600-45828200	Enhancers	Fetal Stomach	stomach
5	chr6:45827800-45828000	Enhancers	Brain Germinal Matrix	brain
6	chr6:45830000-45830800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:45832400-45833000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:45832400-45833400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:45832400-45833600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:45832600-45832800	Enhancers	Hela-S3	cervix
11	chr6:45832800-45834400	Weak transcription	Hela-S3	cervix
12	chr6:45833400-45833800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:45834400-45834800	Flanking Active TSS	Hela-S3	cervix
14	chr6:45834400-45835000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:45834800-45835200	Enhancers	Hela-S3	cervix
16	chr6:45836000-45836200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:45836000-45836400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:45837200-45838200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:45837400-45837600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:45837600-45837800	Enhancers	Brain Germinal Matrix	brain
21	chr6:45837600-45838000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:45837800-45838800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:45838000-45838400	Flanking Active TSS	Osteobl	bone
24	chr6:45838000-45839200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:45838200-45838400	Enhancers	Fetal Muscle Leg	muscle
26	chr6:45838200-45839200	Enhancers	Fetal Lung	lung
27	chr6:45838400-45838600	Enhancers	Brain Germinal Matrix	brain
28	chr6:45838400-45839000	Enhancers	Fetal Stomach	stomach
29	chr6:45838600-45839000	Enhancers	Fetal Heart	heart
30	chr6:45839000-45847200	Weak transcription	Fetal Stomach	stomach
31	chr6:45839200-45840800	Weak transcription	Fetal Lung	lung
32	chr6:45840600-45841600	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links