Variant report

Variant	esv1829207
Chromosome Location	chr3:20557951-20620344
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	chr3:20577616..20580422-chr3:20581225..20583967,3	K562	blood:
2	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
3	chr3:20576686..20578791-chr3:20582822..20585429,2	MCF-7	breast:
4	chr3:20577616..20580422-chr3:20581225..20583967,3	K562	blood:
5	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
6	chr3:20576686..20578791-chr3:20582822..20585429,2	MCF-7	breast:
7	chr17:57920861..57923845-chr3:20581102..20583235,2	MCF-7	breast:
8	chr3:20618172..20620795-chr3:20622169..20624863,2	MCF-7	breast:

No data

Extended variants
information (count: 1478 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1478 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs993279	chr3:20557951-20557952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185232038	chr3:20557976-20557977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534348484	chr3:20558094-20558095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548758369	chr3:20558116-20558117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147475988	chr3:20558135-20558136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567688794	chr3:20558172-20558173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs663371	chr3:20559407-20559408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192457318	chr3:20559431-20559432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568725812	chr3:20559457-20559458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528737557	chr3:20559463-20559464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533281353	chr3:20559530-20559531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551657253	chr3:20559630-20559631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79228540	chr3:20559651-20559652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533969071	chr3:20559783-20559784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182296235	chr3:20559795-20559796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567729896	chr3:20559847-20559848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186911990	chr3:20559852-20559853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556541699	chr3:20559961-20559962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56845101	chr3:20559983-20559984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566769479	chr3:20560008-20560009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374288596	chr3:20560037-20560038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372946070	chr3:20560057-20560058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73821405	chr3:20560200-20560201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572351052	chr3:20560216-20560217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542790878	chr3:20560265-20560266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191733387	chr3:20560294-20560295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569423111	chr3:20560325-20560326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538434657	chr3:20560326-20560327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555214035	chr3:20560336-20560337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113459583	chr3:20560363-20560364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543945605	chr3:20560397-20560398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370171814	chr3:20560430-20560431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184038900	chr3:20560463-20560464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532753793	chr3:20560478-20560479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551743080	chr3:20560554-20560555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566772931	chr3:20560573-20560574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55971226	chr3:20560589-20560590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549213303	chr3:20560614-20560615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367797809	chr3:20560713-20560714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188353450	chr3:20560734-20560735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140966627	chr3:20560778-20560779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114572118	chr3:20560784-20560785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552181125	chr3:20560885-20560886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571654602	chr3:20560949-20560950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538644068	chr3:20560969-20560970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11716457	chr3:20561048-20561049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572389110	chr3:20561070-20561071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542878936	chr3:20561072-20561073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34158362	chr3:20561214-20561215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192811959	chr3:20561220-20561221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20557200-20558200	Enhancers	Liver	Liver
2	chr3:20557400-20558000	Enhancers	Adipose Nuclei	Adipose
3	chr3:20559400-20569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:20565000-20565400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:20565000-20565400	ZNF genes & repeats	Pancreas	Pancrea
6	chr3:20569000-20569800	Enhancers	Fetal Stomach	stomach
7	chr3:20569000-20571200	Enhancers	Fetal Intestine Small	intestine
8	chr3:20569200-20571200	Enhancers	Fetal Intestine Large	intestine
9	chr3:20569400-20569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:20569600-20570000	Enhancers	Fetal Lung	lung
11	chr3:20569800-20570200	Weak transcription	Fetal Stomach	stomach
12	chr3:20570000-20570400	Weak transcription	Fetal Lung	lung
13	chr3:20570200-20571000	Enhancers	Fetal Stomach	stomach
14	chr3:20570400-20571000	Enhancers	Fetal Lung	lung
15	chr3:20575800-20578600	Weak transcription	NHDF-Ad	bronchial
16	chr3:20578600-20579000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:20578600-20579000	Enhancers	Psoas Muscle	Psoas
18	chr3:20578600-20579000	Enhancers	NHDF-Ad	bronchial
19	chr3:20581000-20581600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:20581600-20582800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:20583200-20583400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:20587400-20588200	Enhancers	HUVEC	blood vessel
23	chr3:20587800-20588600	Enhancers	NHDF-Ad	bronchial
24	chr3:20588000-20588400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:20588000-20588600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:20593600-20594200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:20593800-20594400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:20594400-20595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:20595000-20595800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:20600000-20600800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:20600400-20601000	Enhancers	Fetal Kidney	kidney
32	chr3:20601000-20602000	Weak transcription	Fetal Kidney	kidney
33	chr3:20602000-20602200	Enhancers	Fetal Kidney	kidney
34	chr3:20602000-20603000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:20602200-20602600	Weak transcription	Fetal Kidney	kidney
36	chr3:20602400-20603000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:20602600-20602800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:20602600-20603000	Enhancers	Fetal Kidney	kidney
39	chr3:20602600-20603200	Enhancers	NHDF-Ad	bronchial
40	chr3:20603000-20604400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:20603200-20606200	Weak transcription	NHDF-Ad	bronchial
42	chr3:20604400-20607000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:20606200-20607000	Enhancers	NHDF-Ad	bronchial
44	chr3:20607000-20612800	Weak transcription	NHDF-Ad	bronchial
45	chr3:20612800-20616400	Enhancers	NHDF-Ad	bronchial
46	chr3:20613000-20613600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:20613600-20614000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:20614000-20614600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:20614000-20616400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:20614200-20616400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links