Variant report

Variant	esv3463584
Chromosome Location	chr3:160355760-160366323
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr3:160334651..160337629-chr3:160364585..160366181,2	MCF-7	breast:
5	chr3:160349966..160352721-chr3:160360801..160362360,2	K562	blood:
6	chr3:160361430..160364332-chr3:160369380..160371394,3	K562	blood:
7	chr3:160158711..160161195-chr3:160357597..160359673,2	K562	blood:
8	chr3:160281524..160283779-chr3:160359720..160362142,2	K562	blood:
9	chr3:160166590..160168734-chr3:160364883..160367171,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186432	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000213186	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573916637	chr3:160355782-160355783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532900831	chr3:160355790-160355791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11712392	chr3:160355816-160355817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs113666245	chr3:160355835-160355836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145483907	chr3:160355875-160355876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557478525	chr3:160355901-160355902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11713230	chr3:160355942-160355943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs115658860	chr3:160355951-160355952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555935167	chr3:160356035-160356036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9845172	chr3:160356056-160356057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35125736	chr3:160356086-160356087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112440023	chr3:160356108-160356109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143837869	chr3:160356128-160356129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181212742	chr3:160356141-160356142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531547738	chr3:160356162-160356163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186664642	chr3:160356214-160356215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551709731	chr3:160356225-160356226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576971314	chr3:160356231-160356232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201429055	chr3:160356289-160356290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527756980	chr3:160356300-160356301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141398445	chr3:160356372-160356373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567451631	chr3:160356384-160356385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546424008	chr3:160356407-160356408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559806411	chr3:160356425-160356426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113579296	chr3:160356448-160356449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538967545	chr3:160356457-160356458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191464694	chr3:160356472-160356473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145118993	chr3:160356486-160356487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367773873	chr3:160356489-160356490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9845844	chr3:160356520-160356521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs541849024	chr3:160356583-160356584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553879122	chr3:160356587-160356588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573826933	chr3:160356643-160356644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542835040	chr3:160356675-160356676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183730288	chr3:160356705-160356706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116095988	chr3:160356721-160356722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369596925	chr3:160356725-160356726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372744246	chr3:160356729-160356730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79534534	chr3:160356731-160356732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375994247	chr3:160356733-160356734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565246857	chr3:160356735-160356736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369108865	chr3:160356739-160356740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532538459	chr3:160356764-160356765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111886344	chr3:160356785-160356786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547436216	chr3:160356791-160356792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528692989	chr3:160356833-160356834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187720806	chr3:160356849-160356850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530145829	chr3:160356900-160356901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116390679	chr3:160356917-160356918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13062682	chr3:160356919-160356920	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160354800-160355800	Enhancers	Hela-S3	cervix
2	chr3:160355200-160358800	Weak transcription	HUVEC	blood vessel
3	chr3:160355400-160359600	Weak transcription	NH-A	brain
4	chr3:160355600-160357200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:160355800-160358200	Weak transcription	Hela-S3	cervix
6	chr3:160356000-160356400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:160356400-160359000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:160357200-160358000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:160358200-160361000	Enhancers	Hela-S3	cervix
10	chr3:160358800-160360400	Enhancers	HUVEC	blood vessel
11	chr3:160359000-160360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:160359400-160360000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:160359400-160360000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:160359400-160360200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:160359400-160360200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:160359400-160360200	Enhancers	Osteobl	bone
17	chr3:160359600-160360200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:160359600-160360200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:160359600-160360200	Enhancers	NH-A	brain
20	chr3:160359600-160360400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:160359800-160360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:160359800-160360200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:160359800-160360200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:160359800-160360200	Enhancers	Psoas Muscle	Psoas
25	chr3:160359800-160360200	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:160360000-160360200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:160360000-160360200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:160360000-160360200	Enhancers	Spleen	Spleen
29	chr3:160360200-160360800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:160360200-160362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:160360200-160362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:160360400-160362200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:160360800-160361000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:160361000-160364000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:160362000-160362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:160362200-160362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:160362200-160362600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:160364000-160364800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:160364800-160366200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:160366200-160367000	Enhancers	Pancreatic Islets	Pancreatic Islet

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