Variant report

Variant	esv2763727
Chromosome Location	chr3:105299778-105364508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:105352621..105354226-chr3:105357589..105360065,2	K562	blood:
2	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
3	chr3:105352013..105355360-chr3:105356310..105359089,4	K562	blood:
4	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
5	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
6	chr3:105352013..105355360-chr3:105356310..105359089,4	K562	blood:
7	chr3:105352621..105354226-chr3:105357589..105360065,2	K562	blood:
8	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:

No data

Extended variants
information (count: 1860 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1860 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9288811	chr3:105299778-105299779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565897284	chr3:105299779-105299780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530273374	chr3:105299815-105299816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548659798	chr3:105299818-105299819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570079427	chr3:105299824-105299825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529729929	chr3:105299828-105299829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35307988	chr3:105299856-105299857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558646199	chr3:105299859-105299860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138495896	chr3:105299884-105299885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553344783	chr3:105299943-105299944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113374288	chr3:105299975-105299976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541683203	chr3:105299999-105300000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569847710	chr3:105300036-105300037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575213735	chr3:105300057-105300058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143413573	chr3:105300074-105300075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563693416	chr3:105300159-105300160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79926705	chr3:105300192-105300193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148378855	chr3:105300194-105300195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559668724	chr3:105300268-105300269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530210949	chr3:105300332-105300333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141550232	chr3:105300365-105300366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569646414	chr3:105300370-105300371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115492835	chr3:105300406-105300407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530882393	chr3:105300419-105300420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78485317	chr3:105300442-105300443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74937959	chr3:105300455-105300456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73854328	chr3:105300461-105300462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533204916	chr3:105300468-105300469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546895002	chr3:105300518-105300519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78275375	chr3:105300552-105300553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568396821	chr3:105300579-105300580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535754729	chr3:105300740-105300741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556849231	chr3:105300741-105300742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139444561	chr3:105300757-105300758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192154782	chr3:105300758-105300759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141676692	chr3:105300761-105300762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146206577	chr3:105300777-105300778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539870500	chr3:105300782-105300783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139355735	chr3:105300809-105300810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574999992	chr3:105300816-105300817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62262973	chr3:105300844-105300845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116868243	chr3:105300846-105300847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62262974	chr3:105300848-105300849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144092965	chr3:105300867-105300868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16851323	chr3:105300879-105300880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143997455	chr3:105300882-105300883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546979095	chr3:105300887-105300888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185310770	chr3:105300897-105300898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535341255	chr3:105300903-105300904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs620165	chr3:105300908-105300909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
3	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
4	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:105272400-105302800	Weak transcription	NHEK	skin
6	chr3:105273200-105303000	Weak transcription	HMEC	breast
7	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
8	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:105292000-105303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:105296800-105303200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:105297000-105303200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:105297800-105300000	Enhancers	Osteobl	bone
13	chr3:105298000-105300000	Enhancers	HSMM	muscle
14	chr3:105298000-105300200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:105299200-105299800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:105299200-105300000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:105299200-105300600	Enhancers	HSMMtube	muscle
18	chr3:105299600-105299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:105299800-105300000	Enhancers	NHDF-Ad	bronchial
20	chr3:105299800-105300400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:105300000-105307800	Weak transcription	HSMM	muscle
22	chr3:105300600-105302800	Weak transcription	HSMMtube	muscle
23	chr3:105302600-105303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:105302800-105303400	Enhancers	HSMMtube	muscle
25	chr3:105302800-105304000	Enhancers	NHEK	skin
26	chr3:105303000-105303600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:105303000-105303600	ZNF genes & repeats	Aorta	Aorta
28	chr3:105303000-105304200	Enhancers	HMEC	breast
29	chr3:105303200-105303400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:105303200-105303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:105303200-105303600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:105303200-105303600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:105312000-105312800	Weak transcription	HSMM	muscle
34	chr3:105312200-105315000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:105312400-105314200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:105312400-105314200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:105312600-105313400	Enhancers	NH-A	brain
38	chr3:105312600-105313400	Enhancers	NHDF-Ad	bronchial
39	chr3:105312600-105313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:105312600-105313800	Enhancers	HMEC	breast
41	chr3:105312600-105314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:105312600-105314200	Enhancers	NHLF	lung
43	chr3:105312800-105313200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr3:105312800-105313600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:105312800-105313800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:105312800-105313800	Enhancers	HSMM	muscle
47	chr3:105312800-105314000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:105312800-105314200	Enhancers	Osteobl	bone
49	chr3:105313200-105313600	Enhancers	NHEK	skin
50	chr3:105313400-105313800	Enhancers	Placenta Amnion	Placenta Amnion

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