Variant report

Variant	esv1816528
Chromosome Location	chr3:34683998-34757534
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:34021801..34022436-chr3:34725109..34725617,2	MCF-7	breast:
2	chr3:34735289..34737874-chr3:34740568..34742537,2	K562	blood:
3	chr3:33925132..33926279-chr3:34725034..34726059,3	K562	blood:
4	chr3:34703981..34706213-chr3:35633077..35634982,2	K562	blood:
5	chr3:34736374..34738601-chr3:34740465..34742537,2	K562	blood:
6	chr3:34736374..34738601-chr3:34740465..34742537,2	K562	blood:
7	chr2:153787747..153790670-chr3:34686061..34687745,2	MCF-7	breast:
8	chr3:34735289..34737874-chr3:34740568..34742537,2	K562	blood:
9	chr3:33924890..33925565-chr3:34725299..34726001,2	MCF-7	breast:
10	chr3:34661198..34662050-chr3:34724950..34725978,3	MCF-7	breast:
11	chr3:34301756..34302335-chr3:34725095..34725974,2	K562	blood:

No data

Extended variants
information (count: 1311 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1311 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6790851	chr3:34683998-34683999	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142323228	chr3:34688412-34688413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376885710	chr3:34688413-34688414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555627461	chr3:34688419-34688420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557320049	chr3:34688464-34688465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575985667	chr3:34688481-34688482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61144093	chr3:34688495-34688496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543481423	chr3:34688505-34688506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555141553	chr3:34688513-34688514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140698981	chr3:34688521-34688522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535438841	chr3:34688586-34688587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375619341	chr3:34688613-34688614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559590486	chr3:34688628-34688629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113527564	chr3:34688647-34688648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545364112	chr3:34688674-34688675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564459043	chr3:34688681-34688682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185667597	chr3:34688696-34688697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112879255	chr3:34688706-34688707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112433551	chr3:34688711-34688712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144530871	chr3:34688747-34688748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529399258	chr3:34688753-34688754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190391218	chr3:34688776-34688777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62251526	chr3:34688806-34688807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145295416	chr3:34688812-34688813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77595627	chr3:34688819-34688820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551683517	chr3:34688846-34688847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34693813	chr3:34688850-34688851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2216180	chr3:34688851-34688852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369247629	chr3:34688852-34688853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9311063	chr3:34688859-34688860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77039839	chr3:34688861-34688862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34743648	chr3:34688875-34688876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528912957	chr3:34688884-34688885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573607977	chr3:34688947-34688948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542607361	chr3:34688950-34688951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181393713	chr3:34689057-34689058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13071120	chr3:34689122-34689123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149193797	chr3:34689158-34689159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143362601	chr3:34689171-34689172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562484463	chr3:34689193-34689194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4440076	chr3:34689234-34689235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4678698	chr3:34689236-34689237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79646147	chr3:34689240-34689241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543220827	chr3:34689242-34689243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10510660	chr3:34689301-34689302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529357137	chr3:34689324-34689325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9879716	chr3:34689335-34689336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559496533	chr3:34689345-34689346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184387837	chr3:34689352-34689353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139053258	chr3:34689353-34689354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34683600-34684000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:34683600-34684000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr3:34683800-34684000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:34688400-34688800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:34688400-34688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:34688400-34689000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:34688400-34690000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:34688600-34688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:34688600-34688800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:34688800-34689400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:34688800-34689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:34689000-34689400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:34689200-34690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:34689200-34690200	Enhancers	Dnd41	blood
15	chr3:34689400-34690000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:34689400-34690200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:34689600-34690000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:34689800-34690200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:34691400-34692000	Enhancers	Fetal Heart	heart
20	chr3:34709800-34711400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:34710400-34710800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:34710400-34711400	Enhancers	K562	blood
23	chr3:34710600-34711600	Enhancers	Placenta	Placenta
24	chr3:34711400-34718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:34716600-34717000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:34716800-34717000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:34717000-34717800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:34717000-34718000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:34717200-34717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:34717400-34717600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:34717400-34718600	Enhancers	NH-A	brain
32	chr3:34717600-34718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:34717600-34718400	Enhancers	Fetal Heart	heart
34	chr3:34717800-34718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:34717800-34718200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:34717800-34721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:34718000-34718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:34718000-34718400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:34718000-34718400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:34718000-34718400	Enhancers	A549	lung
41	chr3:34718000-34718600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:34718200-34721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:34718400-34720200	Weak transcription	Fetal Heart	heart
44	chr3:34718400-34721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:34719800-34720400	Enhancers	Fetal Intestine Small	intestine
46	chr3:34719800-34721400	Enhancers	Fetal Intestine Large	intestine
47	chr3:34719800-34722600	Enhancers	K562	blood
48	chr3:34720200-34720400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:34720200-34720800	Enhancers	Fetal Heart	heart
50	chr3:34720400-34721000	Weak transcription	Fetal Intestine Small	intestine

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