Variant report

Variant	esv3383990
Chromosome Location	chr20:23648952-23651550
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	chr20:23648954..23649672-chr20:23703387..23704074,2	MCF-7	breast:
2	chr20:23649188..23649689-chr20:23762769..23763504,2	MCF-7	breast:
3	chr20:23648920..23650143-chr20:23704363..23705222,5	MCF-7	breast:
4	chr20:23648665..23649293-chr20:23837547..23838405,2	MCF-7	breast:
5	chr20:23648842..23649774-chr20:23870335..23871266,4	MCF-7	breast:
6	chr20:23648767..23649721-chr20:23779902..23780425,2	MCF-7	breast:
7	chr20:23648334..23649447-chr20:23704109..23705001,3	MCF-7	breast:
8	chr20:23649611..23652412-chr20:23660454..23663208,2	MCF-7	breast:

No data

Extended variants
information (count: 120 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562380807	chr20:23649058-23649059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528008902	chr20:23649125-23649126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547959088	chr20:23649127-23649128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570754877	chr20:23649132-23649133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147429277	chr20:23649133-23649134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549823046	chr20:23649150-23649151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76917076	chr20:23649153-23649154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192300053	chr20:23649169-23649170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541015530	chr20:23649176-23649177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115969899	chr20:23649177-23649178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553241039	chr20:23649196-23649197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375514835	chr20:23649232-23649233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149959042	chr20:23649245-23649246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533883242	chr20:23649297-23649298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368923313	chr20:23649302-23649303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114620853	chr20:23649396-23649397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577065306	chr20:23649426-23649427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200861823	chr20:23649439-23649440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546032303	chr20:23649445-23649446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73104304	chr20:23649458-23649459	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2424599	chr20:23649463-23649464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59905048	chr20:23649466-23649467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184733947	chr20:23649515-23649516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555474597	chr20:23649516-23649517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573392546	chr20:23649537-23649538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530943674	chr20:23649578-23649579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188798324	chr20:23649603-23649604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182062005	chr20:23649614-23649615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111932925	chr20:23649618-23649619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549982794	chr20:23649621-23649622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563418065	chr20:23649628-23649629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145157331	chr20:23649640-23649641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184654817	chr20:23649672-23649673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149142751	chr20:23649674-23649675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535020666	chr20:23649769-23649770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143667124	chr20:23649770-23649771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73902118	chr20:23649792-23649793	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113551201	chr20:23649805-23649806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545868885	chr20:23649841-23649842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539618300	chr20:23649861-23649862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189979651	chr20:23649880-23649881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564569093	chr20:23649909-23649910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376089519	chr20:23649911-23649912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535242062	chr20:23649914-23649915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201846573	chr20:23649924-23649925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115283114	chr20:23649941-23649942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116733760	chr20:23649975-23649976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386813380	chr20:23649987-23649988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369089284	chr20:23650010-23650011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564410698	chr20:23650011-23650012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23637200-23660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23641800-23652200	Weak transcription	Adipose Nuclei	Adipose
3	chr20:23642400-23649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:23646000-23649200	Weak transcription	HepG2	liver
5	chr20:23648200-23649400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:23648200-23650400	Weak transcription	Spleen	Spleen
7	chr20:23648400-23649200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr20:23648600-23649000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:23648800-23649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr20:23649000-23650400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23649200-23649400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr20:23649200-23649600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:23649200-23649600	Enhancers	HepG2	liver
14	chr20:23649400-23649600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr20:23650600-23650800	Enhancers	Spleen	Spleen

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