Variant report

Variant	nsv981357
Chromosome Location	chr6:5337260-5341561
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	chr6:5337400..5339933-chr6:5352570..5354341,2	K562	blood:
2	chr6:5333079..5335354-chr6:5335769..5338319,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6925426	chr6:5337261-5337262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528765242	chr6:5337284-5337285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547562446	chr6:5337300-5337301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149761965	chr6:5337301-5337302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs398109787	chr6:5337312-5337313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540941208	chr6:5337352-5337353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192955784	chr6:5337377-5337378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151274039	chr6:5337380-5337381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548093210	chr6:5337387-5337388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35240833	chr6:5337421-5337422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368603775	chr6:5337422-5337423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182921284	chr6:5337425-5337426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386405989	chr6:5337433-5337434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113594862	chr6:5337435-5337436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs70974191	chr6:5337436-5337437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188821439	chr6:5337453-5337454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532134226	chr6:5337479-5337480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192147623	chr6:5337500-5337501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200204849	chr6:5337519-5337520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78708040	chr6:5337572-5337573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577435794	chr6:5337585-5337586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553261838	chr6:5337586-5337587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74867963	chr6:5337596-5337597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184361916	chr6:5337725-5337726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2552297	chr6:5337734-5337735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575758495	chr6:5337742-5337743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546339635	chr6:5337746-5337747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558347563	chr6:5337772-5337773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2552298	chr6:5337783-5337784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs189509875	chr6:5337808-5337809	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562450607	chr6:5337813-5337814	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115658763	chr6:5337817-5337818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541763458	chr6:5337818-5337819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563159800	chr6:5337882-5337883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375972566	chr6:5337897-5337898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569382112	chr6:5337918-5337919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530489399	chr6:5337939-5337940	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs551888276	chr6:5337943-5337944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372683745	chr6:5337948-5337949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs140613379	chr6:5338030-5338031	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528318464	chr6:5338079-5338080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192412763	chr6:5338105-5338106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562093430	chr6:5338139-5338140	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568307065	chr6:5338151-5338152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200420315	chr6:5338240-5338241	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535386238	chr6:5338266-5338267	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184575896	chr6:5338286-5338287	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551930046	chr6:5338301-5338302	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9392673	chr6:5338314-5338315	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143718261	chr6:5338325-5338326	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5303200-5368800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:5304000-5337600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:5320600-5344400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:5325800-5339600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:5326000-5337800	Weak transcription	HSMM	muscle
6	chr6:5326400-5337800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:5326600-5349200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:5326600-5385000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:5326800-5337800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:5327000-5337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:5327000-5338000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:5327000-5368800	Weak transcription	Aorta	Aorta
13	chr6:5327400-5349400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:5327800-5349000	Weak transcription	Primary T cells from cord blood	blood
15	chr6:5332000-5339800	Weak transcription	Left Ventricle	heart
16	chr6:5332000-5340200	Weak transcription	Right Ventricle	heart
17	chr6:5334200-5353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:5334400-5337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:5334600-5337600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:5334600-5339000	Weak transcription	Psoas Muscle	Psoas
21	chr6:5334800-5371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:5335400-5337600	Weak transcription	HUVEC	blood vessel
23	chr6:5335600-5337800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:5335600-5338800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:5336200-5337800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:5336400-5337800	Enhancers	GM12878-XiMat	blood
27	chr6:5337000-5338200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:5337400-5338600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:5337600-5337800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:5337600-5338000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:5337600-5338000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr6:5337600-5338200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:5337600-5338200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:5337600-5338200	Enhancers	Osteobl	bone
35	chr6:5337600-5338800	Enhancers	HUVEC	blood vessel
36	chr6:5337800-5338200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:5337800-5338200	Enhancers	Brain Angular Gyrus	brain
38	chr6:5337800-5338200	Flanking Active TSS	GM12878-XiMat	blood
39	chr6:5337800-5338200	Enhancers	HSMM	muscle
40	chr6:5337800-5338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:5337800-5339200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:5337800-5339200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:5337800-5380800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:5338000-5339200	Enhancers	Fetal Intestine Small	intestine
45	chr6:5338000-5339200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:5338200-5338800	Active TSS	GM12878-XiMat	blood
47	chr6:5338200-5343600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:5338200-5353400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:5338600-5339000	Enhancers	Pancreas	Pancrea
50	chr6:5338600-5340600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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