Variant report

Variant	esv3333458
Chromosome Location	chr6:2376198-2376996
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	chr6:2373039..2375063-chr6:2375225..2378148,2	K562	blood:
2	chr6:2368647..2371784-chr6:2373502..2376486,4	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546648169	chr6:2376203-2376204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112016600	chr6:2376241-2376242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566570469	chr6:2376248-2376249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114636766	chr6:2376266-2376267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558623002	chr6:2376333-2376334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545641838	chr6:2376343-2376344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73344730	chr6:2376378-2376379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150391055	chr6:2376404-2376405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138675018	chr6:2376407-2376408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112135208	chr6:2376408-2376409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113251869	chr6:2376414-2376415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112131260	chr6:2376417-2376418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141713145	chr6:2376419-2376420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139483332	chr6:2376426-2376427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144784982	chr6:2376427-2376428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145009976	chr6:2376438-2376439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199682387	chr6:2376441-2376442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377310801	chr6:2376457-2376458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386696129	chr6:2376459-2376460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562331177	chr6:2376475-2376476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141517171	chr6:2376485-2376486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114762853	chr6:2376487-2376488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139376510	chr6:2376496-2376497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143544553	chr6:2376499-2376500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200949108	chr6:2376507-2376508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112709985	chr6:2376515-2376516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150145149	chr6:2376516-2376517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148591884	chr6:2376525-2376526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371751334	chr6:2376527-2376528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139726925	chr6:2376528-2376529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376501928	chr6:2376538-2376539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149114843	chr6:2376542-2376543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs137883981	chr6:2376543-2376544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369403297	chr6:2376555-2376556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372085122	chr6:2376556-2376557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375110256	chr6:2376562-2376563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369838801	chr6:2376563-2376564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373054886	chr6:2376570-2376571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375686666	chr6:2376576-2376577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199915054	chr6:2376578-2376579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376499384	chr6:2376587-2376588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369800214	chr6:2376591-2376592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372646940	chr6:2376596-2376597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376979290	chr6:2376600-2376601	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568930425	chr6:2376613-2376614	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370060770	chr6:2376626-2376627	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200851631	chr6:2376631-2376632	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374798897	chr6:2376634-2376635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376391106	chr6:2376635-2376636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371272376	chr6:2376658-2376659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21364760	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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2344400-2377400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:2352400-2376400	Weak transcription	HSMMtube	muscle
3	chr6:2353800-2376400	Weak transcription	Pancreas	Pancrea
4	chr6:2354200-2376400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:2356200-2382200	Weak transcription	Aorta	Aorta
6	chr6:2356600-2382800	Weak transcription	Psoas Muscle	Psoas
7	chr6:2360400-2379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:2362400-2376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:2362400-2391800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:2362400-2397200	Weak transcription	Liver	Liver
11	chr6:2362800-2397200	Weak transcription	Left Ventricle	heart
12	chr6:2367400-2377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:2370200-2389000	Weak transcription	Esophagus	oesophagus
14	chr6:2370400-2376800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2371400-2376600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:2375400-2377000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:2376400-2376600	Enhancers	HSMMtube	muscle
18	chr6:2376400-2376800	Enhancers	Pancreas	Pancrea
19	chr6:2376400-2377000	Enhancers	Gastric	stomach
20	chr6:2376400-2378400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:2376600-2376800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:2376600-2377000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:2376600-2377000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:2376600-2377000	Enhancers	Osteobl	bone
25	chr6:2376600-2377200	Enhancers	A549	lung
26	chr6:2376600-2377200	Flanking Active TSS	HSMMtube	muscle
27	chr6:2376600-2377600	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:2376600-2378800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:2376600-2380200	Enhancers	HSMM	muscle
30	chr6:2376800-2377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:2376800-2377000	Enhancers	Colon Smooth Muscle	Colon
32	chr6:2376800-2377000	Enhancers	Rectal Smooth Muscle	rectum
33	chr6:2376800-2377200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:2376800-2377200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:2376800-2377400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:2376800-2377400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:2376800-2377400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:2376800-2377600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:2376800-2377800	Enhancers	Hela-S3	cervix
40	chr6:2376800-2378200	Enhancers	NH-A	brain
41	chr6:2376800-2380400	Enhancers	HMEC	breast
42	chr6:2376800-2380400	Enhancers	NHDF-Ad	bronchial
43	chr6:2376800-2380600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:2376800-2389000	Weak transcription	Pancreas	Pancrea

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