Variant report

Variant	esv2421521
Chromosome Location	chr3:160356940-160362285
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160351738..160354562-chr3:160355719..160358512,3	K562	blood:
2	chr3:160263639..160265252-chr3:160357091..160359879,2	K562	blood:
3	chr3:160284019..160287638-chr3:160358155..160361126,3	K562	blood:
4	chr3:160361430..160364332-chr3:160369380..160371394,3	K562	blood:
5	chr3:160349966..160352721-chr3:160360801..160362360,2	K562	blood:
6	chr3:160158711..160161195-chr3:160357597..160359673,2	K562	blood:
7	chr3:160281524..160283779-chr3:160359720..160362142,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229320	chromatin interactions
ENSG00000186432	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs2367206	chr3:160356940-160356941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566389774	chr3:160356942-160356943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55684323	chr3:160357014-160357015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138168241	chr3:160357083-160357084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573737504	chr3:160357088-160357089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536352415	chr3:160357089-160357090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556292589	chr3:160357091-160357092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576171315	chr3:160357097-160357098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548493807	chr3:160357111-160357112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545221500	chr3:160357123-160357124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191045309	chr3:160357138-160357139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149556326	chr3:160357148-160357149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540989408	chr3:160357180-160357181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16831313	chr3:160357187-160357188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530106731	chr3:160357203-160357204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144217357	chr3:160357205-160357206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9851063	chr3:160357290-160357291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532576935	chr3:160357314-160357315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548351911	chr3:160357360-160357361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571024197	chr3:160357362-160357363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139779806	chr3:160357433-160357434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537548949	chr3:160357436-160357437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370766615	chr3:160357450-160357451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535347873	chr3:160357457-160357458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547368178	chr3:160357506-160357507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114229140	chr3:160357566-160357567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568284557	chr3:160357616-160357617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1920658	chr3:160357646-160357647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs537357908	chr3:160357674-160357675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76358731	chr3:160357685-160357686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145274901	chr3:160357750-160357751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551212891	chr3:160357782-160357783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538448365	chr3:160357832-160357833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183558093	chr3:160357834-160357835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571965846	chr3:160357857-160357858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370372412	chr3:160357859-160357860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540948859	chr3:160357869-160357870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201066328	chr3:160357898-160357899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76014713	chr3:160357923-160357924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375822395	chr3:160357954-160357955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186759225	chr3:160357957-160357958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574478301	chr3:160357983-160357984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535411271	chr3:160358019-160358020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543828676	chr3:160358020-160358021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79589155	chr3:160358022-160358023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140501737	chr3:160358044-160358045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570758356	chr3:160358055-160358056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191567899	chr3:160358119-160358120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556061714	chr3:160358133-160358134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528763562	chr3:160358148-160358149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160355200-160358800	Weak transcription	HUVEC	blood vessel
2	chr3:160355400-160359600	Weak transcription	NH-A	brain
3	chr3:160355600-160357200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:160355800-160358200	Weak transcription	Hela-S3	cervix
5	chr3:160356400-160359000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:160357200-160358000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:160358200-160361000	Enhancers	Hela-S3	cervix
8	chr3:160358800-160360400	Enhancers	HUVEC	blood vessel
9	chr3:160359000-160360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:160359400-160360000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:160359400-160360000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:160359400-160360200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:160359400-160360200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:160359400-160360200	Enhancers	Osteobl	bone
15	chr3:160359600-160360200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:160359600-160360200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr3:160359600-160360200	Enhancers	NH-A	brain
18	chr3:160359600-160360400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:160359800-160360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:160359800-160360200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:160359800-160360200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:160359800-160360200	Enhancers	Psoas Muscle	Psoas
23	chr3:160359800-160360200	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:160360000-160360200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr3:160360000-160360200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:160360000-160360200	Enhancers	Spleen	Spleen
27	chr3:160360200-160360800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:160360200-160362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:160360200-160362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:160360400-160362200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:160360800-160361000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr3:160361000-160364000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:160362000-160362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:160362200-160362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:160362200-160362600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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