Variant report

Variant	esv3442943
Chromosome Location	chr6:11616541-11619014
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	chr6:11615083..11617199-chr6:12286030..12287822,2	MCF-7	breast:
2	chr6:11618937..11619446-chr6:12289244..12290218,3	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58679553	chr6:11616562-11616563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532558078	chr6:11616567-11616568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546130515	chr6:11616605-11616606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559482521	chr6:11616606-11616607	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528623020	chr6:11616625-11616626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548374055	chr6:11616651-11616652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568340708	chr6:11616669-11616670	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11753744	chr6:11616687-11616688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs76595825	chr6:11616717-11616718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62396872	chr6:11616740-11616741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116384768	chr6:11616752-11616753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145354554	chr6:11616757-11616758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565523738	chr6:11616771-11616772	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376188232	chr6:11616780-11616781	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs137969718	chr6:11616792-11616793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs142435768	chr6:11616794-11616795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574699479	chr6:11616868-11616869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569043839	chr6:11616911-11616912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75754536	chr6:11616925-11616926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1407450	chr6:11616935-11616936	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372067644	chr6:11616938-11616939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377047644	chr6:11616964-11616965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs200747557	chr6:11616965-11616966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs534428339	chr6:11616992-11616993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs201775141	chr6:11617015-11617016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545767696	chr6:11617057-11617058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559728948	chr6:11617098-11617099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148238126	chr6:11617105-11617106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186748501	chr6:11617135-11617136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs523272	chr6:11617136-11617137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373198669	chr6:11617255-11617256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202043887	chr6:11617267-11617268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531014747	chr6:11617355-11617356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201611015	chr6:11617403-11617404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61728161	chr6:11617406-11617407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374718945	chr6:11617407-11617408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368822734	chr6:11617493-11617494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191597514	chr6:11617496-11617497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111218782	chr6:11617497-11617498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111218745	chr6:11617499-11617500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370049661	chr6:11617503-11617504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145730769	chr6:11617536-11617537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138373611	chr6:11617537-11617538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200168323	chr6:11617538-11617539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200309575	chr6:11617563-11617564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569298920	chr6:11617585-11617586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201113291	chr6:11617619-11617620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377762883	chr6:11617620-11617621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199663693	chr6:11617676-11617677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369517524	chr6:11617677-11617678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11610200-11631400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:11611200-11622600	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:11612800-11617000	Enhancers	HSMMtube	muscle
4	chr6:11613000-11616600	Enhancers	NHLF	lung
5	chr6:11613000-11616800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:11613200-11616800	Enhancers	Hela-S3	cervix
7	chr6:11613200-11617000	Enhancers	NHDF-Ad	bronchial
8	chr6:11613200-11617000	Enhancers	Osteobl	bone
9	chr6:11613200-11617200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:11613600-11616800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:11613600-11617000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:11613800-11616600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:11613800-11617000	Enhancers	HSMM	muscle
14	chr6:11614400-11616800	Enhancers	Placenta	Placenta
15	chr6:11614400-11617000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:11614800-11617000	Enhancers	HUVEC	blood vessel
17	chr6:11615400-11617000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:11615600-11617000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:11615600-11621400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:11616000-11616800	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:11616200-11617000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:11616400-11616600	Enhancers	Psoas Muscle	Psoas
23	chr6:11616400-11616600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:11616400-11616800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:11616400-11616800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:11616400-11616800	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:11616400-11616800	Enhancers	Fetal Stomach	stomach
28	chr6:11616400-11616800	Enhancers	Left Ventricle	heart
29	chr6:11616400-11616800	Enhancers	Lung	lung
30	chr6:11616400-11616800	Enhancers	Ovary	ovary
31	chr6:11616400-11616800	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:11616400-11616800	Enhancers	A549	lung
33	chr6:11616400-11616800	Flanking Active TSS	NH-A	brain
34	chr6:11616400-11619600	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:11616600-11616800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:11616600-11617000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:11616600-11618200	Weak transcription	NHLF	lung
38	chr6:11616600-11622200	Weak transcription	Psoas Muscle	Psoas
39	chr6:11616800-11617000	Enhancers	NH-A	brain
40	chr6:11616800-11618200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:11616800-11618200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:11616800-11618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:11616800-11618400	Weak transcription	A549	lung
44	chr6:11616800-11621200	Weak transcription	Fetal Stomach	stomach
45	chr6:11616800-11622200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:11616800-11622400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:11616800-11622600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:11616800-11622800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:11616800-11623000	Weak transcription	Lung	lung
50	chr6:11617000-11618000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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