Variant report

Variant	nsv981298
Chromosome Location	chr6:5118857-5126001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5119211..5120955-chr6:5124804..5127728,2	K562	blood:
2	chr6:5119211..5120955-chr6:5124804..5127728,2	K562	blood:
3	chr6:5122792..5124780-chr6:5175533..5177529,2	K562	blood:
4	chr6:5120935..5125341-chr6:5126554..5131441,5	K562	blood:
5	chr6:5120295..5122743-chr6:5128225..5130886,2	K562	blood:

Extended variants
information (count: 334 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201250276	chr6:5118943-5118944	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77414570	chr6:5118952-5118953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77495572	chr6:5118953-5118954	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533031234	chr6:5118985-5118986	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113612613	chr6:5119012-5119013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560267653	chr6:5119018-5119019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183820716	chr6:5119033-5119034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527498292	chr6:5119051-5119052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs458108	chr6:5119062-5119063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs9502273	chr6:5119075-5119076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376748407	chr6:5119094-5119095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538193154	chr6:5119096-5119097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550179491	chr6:5119164-5119165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77356095	chr6:5119192-5119193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539091776	chr6:5119205-5119206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553976434	chr6:5119240-5119241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572557662	chr6:5119257-5119258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536438004	chr6:5119259-5119260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532554702	chr6:5119260-5119261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554787289	chr6:5119270-5119271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576306701	chr6:5119271-5119272	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73717656	chr6:5119274-5119275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562110661	chr6:5119342-5119343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs457206	chr6:5119371-5119372	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs186792111	chr6:5119392-5119393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs191637394	chr6:5119397-5119398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531874703	chr6:5119405-5119406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560002752	chr6:5119450-5119451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372372381	chr6:5119476-5119477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527423197	chr6:5119503-5119504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183964700	chr6:5119545-5119546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561096823	chr6:5119562-5119563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187762471	chr6:5119564-5119565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191565503	chr6:5119585-5119586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547814231	chr6:5119592-5119593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114129430	chr6:5119595-5119596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139402881	chr6:5119602-5119603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566036602	chr6:5119615-5119616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536375126	chr6:5119642-5119643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182192685	chr6:5119647-5119648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150069514	chr6:5119660-5119661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs467304	chr6:5119696-5119697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs537321339	chr6:5119698-5119699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75118391	chr6:5119705-5119706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34296358	chr6:5119712-5119713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112057428	chr6:5119787-5119788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377493698	chr6:5119793-5119794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142582766	chr6:5119796-5119797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553778469	chr6:5119825-5119826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144681767	chr6:5119826-5119827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5099000-5130000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:5101800-5132200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:5103200-5132800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:5105200-5131400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:5105800-5125600	Weak transcription	Ovary	ovary
6	chr6:5105800-5128200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:5107800-5132000	Weak transcription	Pancreas	Pancrea
8	chr6:5109200-5121800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:5109200-5130200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:5109400-5121600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:5110200-5121800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:5110400-5121600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:5111200-5119200	Weak transcription	Fetal Intestine Large	intestine
14	chr6:5112200-5128600	Weak transcription	Primary T cells from cord blood	blood
15	chr6:5112600-5122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:5112600-5123400	Weak transcription	Fetal Lung	lung
17	chr6:5112800-5121600	Weak transcription	Spleen	Spleen
18	chr6:5112800-5122800	Weak transcription	Right Ventricle	heart
19	chr6:5112800-5124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:5112800-5125400	Weak transcription	Right Atrium	heart
21	chr6:5112800-5132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:5113000-5119000	Weak transcription	A549	lung
23	chr6:5113000-5130400	Weak transcription	Gastric	stomach
24	chr6:5113200-5122200	Weak transcription	Fetal Stomach	stomach
25	chr6:5113200-5122800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:5113200-5122800	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:5113200-5124800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:5113200-5130400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:5113400-5122800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:5113400-5132400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:5113600-5122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:5113800-5125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:5116000-5121400	Weak transcription	Fetal Heart	heart
34	chr6:5116000-5129000	Weak transcription	Fetal Intestine Small	intestine
35	chr6:5117400-5125200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:5117600-5124600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:5117800-5121600	Enhancers	HepG2	liver
38	chr6:5118600-5119400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:5118600-5120000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:5118800-5119000	Flanking Active TSS	Liver	Liver
41	chr6:5119000-5119200	Enhancers	Liver	Liver
42	chr6:5119000-5119800	Enhancers	A549	lung
43	chr6:5119200-5119400	Flanking Active TSS	Liver	Liver
44	chr6:5119200-5119800	Enhancers	Fetal Intestine Large	intestine
45	chr6:5119400-5123400	Enhancers	Liver	Liver
46	chr6:5119800-5125200	Weak transcription	A549	lung
47	chr6:5120000-5123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:5121400-5123000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:5121400-5123000	Enhancers	Fetal Heart	heart
50	chr6:5121600-5122000	Enhancers	Psoas Muscle	Psoas

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