Variant report

Variant	esv1831300
Chromosome Location	chr3:20886763-20919920
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20906112..20908398-chr3:20911514..20913727,2	K562	blood:
2	chr3:20884248..20889854-chr3:20892080..20895253,4	K562	blood:
3	chr1:11966805..11970278-chr3:20885070..20888091,20	K562	blood:
4	chr3:20885773..20889854-chr3:20892035..20895273,4	K562	blood:
5	chr3:20908678..20911215-chr3:20923449..20926169,2	K562	blood:
6	chr3:20881823..20883921-chr3:20890790..20893677,2	K562	blood:
7	chr3:20885773..20889854-chr3:20892035..20895273,4	K562	blood:
8	chr3:20882801..20884496-chr3:20885503..20888322,2	K562	blood:
9	chr3:20884248..20889854-chr3:20892080..20895253,4	K562	blood:
10	chr1:11967831..11969033-chr3:20886071..20887071,5	HCT-116	colon:
11	chr1:11966625..11969718-chr3:20885070..20888090,17	K562	blood:
12	chr3:20875856..20878691-chr3:20885550..20887328,2	K562	blood:
13	chr1:11967944..11968718-chr3:20886090..20887071,3	NB4	blood:
14	chr3:20906112..20908398-chr3:20911514..20913727,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199347	chromatin interactions
ENSG00000201801	chromatin interactions

Extended variants
information (count: 849 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1032665	chr3:20886763-20886764	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533867780	chr3:20886804-20886805	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567410641	chr3:20886873-20886874	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531724364	chr3:20886876-20886877	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373883263	chr3:20886904-20886905	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550479619	chr3:20886917-20886918	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547651731	chr3:20886968-20886969	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569004989	chr3:20886977-20886978	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376870909	chr3:20887028-20887029	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150621978	chr3:20887043-20887044	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567384870	chr3:20887045-20887046	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557991599	chr3:20887080-20887081	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs55912973	chr3:20887091-20887092	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533760038	chr3:20887111-20887112	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555435193	chr3:20887129-20887130	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1499006	chr3:20887148-20887149	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544294674	chr3:20887172-20887173	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555998653	chr3:20887189-20887190	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35133252	chr3:20887238-20887239	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs578091711	chr3:20887254-20887255	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545272276	chr3:20887267-20887268	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560838957	chr3:20887294-20887295	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572448437	chr3:20887296-20887297	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544201788	chr3:20887299-20887300	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542598605	chr3:20887399-20887400	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs116061810	chr3:20887433-20887434	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs5023501	chr3:20887438-20887439	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184114461	chr3:20887446-20887447	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565245088	chr3:20887465-20887466	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs139758970	chr3:20887488-20887489	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142053799	chr3:20887510-20887511	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185896744	chr3:20887547-20887548	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146353744	chr3:20887573-20887574	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111623516	chr3:20887574-20887575	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144446425	chr3:20887589-20887590	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115830065	chr3:20887594-20887595	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144389945	chr3:20887597-20887598	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577707986	chr3:20887622-20887623	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539216678	chr3:20887632-20887633	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs114017581	chr3:20887649-20887650	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374121223	chr3:20887650-20887651	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572384847	chr3:20887675-20887676	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs73037303	chr3:20887704-20887705	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561262564	chr3:20887735-20887736	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148805084	chr3:20887744-20887745	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543456097	chr3:20887757-20887758	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565370681	chr3:20887761-20887762	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189827901	chr3:20887814-20887815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115938270	chr3:20887817-20887818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562452252	chr3:20887843-20887844	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	21293372	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20883600-20887800	Enhancers	Fetal Lung	lung
2	chr3:20883600-20891600	Weak transcription	Psoas Muscle	Psoas
3	chr3:20886000-20887600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:20886400-20886800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:20886600-20886800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:20886600-20887600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:20886600-20887600	Weak transcription	Fetal Stomach	stomach
8	chr3:20886800-20887800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:20887000-20887400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:20887200-20887400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:20887600-20887800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:20887600-20887800	Enhancers	Aorta	Aorta
13	chr3:20887600-20887800	Enhancers	Fetal Stomach	stomach
14	chr3:20887600-20887800	Enhancers	Gastric	stomach
15	chr3:20887600-20888000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:20887600-20889000	Enhancers	HepG2	liver
17	chr3:20887600-20891000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:20887800-20888000	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:20887800-20891600	Weak transcription	Gastric	stomach
20	chr3:20887800-20892200	Weak transcription	Fetal Lung	lung
21	chr3:20888400-20888800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:20888800-20889000	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:20889200-20889600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:20890000-20890200	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:20891200-20891400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:20891400-20891600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:20891600-20891800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:20891600-20891800	Enhancers	Gastric	stomach
29	chr3:20891600-20891800	Enhancers	Pancreas	Pancrea
30	chr3:20891600-20891800	Enhancers	Psoas Muscle	Psoas
31	chr3:20892200-20893000	Enhancers	Fetal Lung	lung
32	chr3:20892200-20896200	Enhancers	HepG2	liver
33	chr3:20892400-20892600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:20892600-20892800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:20893600-20893800	Enhancers	Ovary	ovary
36	chr3:20893600-20894000	Enhancers	Fetal Intestine Large	intestine
37	chr3:20894000-20895200	Weak transcription	Ovary	ovary
38	chr3:20895000-20895200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr3:20895000-20895800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:20895200-20895400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr3:20895200-20895600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:20895200-20895800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:20895200-20895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:20895200-20896600	Enhancers	Ovary	ovary
45	chr3:20895400-20895800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:20895400-20895800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:20895600-20895800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:20895600-20899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:20895800-20899200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:20895800-20899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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