Variant report

Variant	esv3346177
Chromosome Location	chr20:23048710-23052980
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:4)
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	chr20:23046539..23049855-chr20:23055355..23058512,3	K562	blood:
2	chr20:23052466..23054155-chr20:23054517..23057205,2	K562	blood:
3	chr20:23044091..23045907-chr20:23047694..23050587,2	K562	blood:
4	chr20:23044407..23046627-chr20:23047753..23050587,2	K562	blood:
5	chr20:23052466..23054957-chr20:23062982..23064859,2	K562	blood:
6	chr20:23050588..23053168-chr20:23056327..23058098,2	K562	blood:
7	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD93-5	chr20:23052184-23053359	NONHSAT079032
2	lnc-CD93-1	chr20:23049873-23049952	XLOC_013688
3	lnc-CD93-1	chr20:23051887-23052105	XLOC_013688
4	lnc-SSTR4-9	chr20:23052184-23053787	NONHSAT079031

No data

Variant related genes	Relation type
BCL6	miRNA target sites
HN1L	miRNA target sites

Extended variants
information (count: 195 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs2424515	chr20:23048733-23048734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557939461	chr20:23048739-23048740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6113925	chr20:23048816-23048817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146017400	chr20:23048820-23048821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6113926	chr20:23048851-23048852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139992103	chr20:23048882-23048883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574640791	chr20:23048913-23048914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142272674	chr20:23048916-23048917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113958208	chr20:23048931-23048932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573403911	chr20:23049062-23049063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185277423	chr20:23049071-23049072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545958604	chr20:23049072-23049073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190619563	chr20:23049074-23049075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540496223	chr20:23049086-23049087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180906992	chr20:23049133-23049134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562268141	chr20:23049156-23049157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571380669	chr20:23049170-23049171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151256184	chr20:23049174-23049175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187067049	chr20:23049177-23049178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370280240	chr20:23049180-23049181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6137816	chr20:23049182-23049183	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533153192	chr20:23049233-23049234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549865869	chr20:23049339-23049340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570091619	chr20:23049352-23049353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537658875	chr20:23049367-23049368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554720169	chr20:23049376-23049377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73311920	chr20:23049411-23049412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534114121	chr20:23049413-23049414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150000736	chr20:23049441-23049442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562945909	chr20:23049450-23049451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558075177	chr20:23049463-23049464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545777285	chr20:23049478-23049479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375737233	chr20:23049487-23049488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11907361	chr20:23049507-23049508	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73311922	chr20:23049530-23049531	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2567617	chr20:23049547-23049548	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528175443	chr20:23049558-23049559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541371968	chr20:23049565-23049566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35643870	chr20:23049585-23049586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564392100	chr20:23049588-23049589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113376137	chr20:23049591-23049592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182825687	chr20:23049628-23049629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570072951	chr20:23049678-23049679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187464510	chr20:23049683-23049684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549192046	chr20:23049704-23049705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77381472	chr20:23049763-23049764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367989671	chr20:23049781-23049782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76458418	chr20:23049821-23049822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190081581	chr20:23049825-23049826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2749816	chr20:23049826-23049827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23053000	Weak transcription	Ovary	ovary
3	chr20:23043600-23054000	Weak transcription	Lung	lung
4	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
5	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
6	chr20:23043800-23055200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:23044800-23053000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr20:23045000-23051800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr20:23046600-23052600	Weak transcription	Fetal Lung	lung
10	chr20:23047200-23057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:23047800-23059000	Weak transcription	Right Atrium	heart
12	chr20:23048200-23050600	Weak transcription	Esophagus	oesophagus
13	chr20:23050600-23050800	Enhancers	Esophagus	oesophagus
14	chr20:23050800-23061200	Weak transcription	Esophagus	oesophagus
15	chr20:23051200-23055000	Weak transcription	Primary T cells from cord blood	blood
16	chr20:23051800-23058400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr20:23052600-23053200	Enhancers	Fetal Lung	lung
18	chr20:23052600-23054200	Enhancers	Fetal Stomach	stomach
19	chr20:23052600-23055400	Enhancers	HUVEC	blood vessel

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