Variant report

Variant	esv994443
Chromosome Location	chr20:1385239-1392933
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:3)
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	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
2	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
3	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
4	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:
5	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
6	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
7	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:
8	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP1A-3	chr20:1385809-1385927	NONHSAT078110
2	lnc-FKBP1A-3	chr20:1385809-1385927	NONHSAT078111
3	lnc-FKBP1A-3	chr20:1389013-1389091	NONHSAT078110

No data

Extended variants
information (count: 263 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367589868	chr20:1385302-1385303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56377442	chr20:1385325-1385326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370821157	chr20:1385381-1385382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374909209	chr20:1385382-1385383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75690265	chr20:1385386-1385387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56129657	chr20:1385400-1385401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6042026	chr20:1385417-1385418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35960376	chr20:1385435-1385436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541240411	chr20:1385449-1385450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368830787	chr20:1385459-1385460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564270614	chr20:1385471-1385472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533239351	chr20:1385545-1385546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543454621	chr20:1385573-1385574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138996754	chr20:1385618-1385619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185347855	chr20:1385628-1385629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529226666	chr20:1385674-1385675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549270339	chr20:1385705-1385706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565802351	chr20:1385737-1385738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372108185	chr20:1385787-1385788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6109816	chr20:1385863-1385864	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528316533	chr20:1385865-1385866	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs369814799	chr20:1385866-1385867	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs551585076	chr20:1385898-1385899	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs368140457	chr20:1385997-1385998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115072765	chr20:1386019-1386020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537138876	chr20:1386037-1386038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71328071	chr20:1386053-1386054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs567260099	chr20:1386062-1386063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190885766	chr20:1386064-1386065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73081790	chr20:1386065-1386066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181978154	chr20:1386092-1386093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187579063	chr20:1386094-1386095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541265264	chr20:1386183-1386184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557924436	chr20:1386197-1386198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111361508	chr20:1386223-1386224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6105076	chr20:1386242-1386243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191508135	chr20:1386278-1386279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147213726	chr20:1386290-1386291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6042032	chr20:1386295-1386296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542069228	chr20:1386329-1386330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183827978	chr20:1386335-1386336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551648811	chr20:1386343-1386344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202013848	chr20:1386383-1386384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200465316	chr20:1386385-1386386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6105077	chr20:1386395-1386396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530681400	chr20:1386424-1386425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117780492	chr20:1386441-1386442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567219733	chr20:1386470-1386471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1474879	chr20:1386473-1386474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs552680220	chr20:1386499-1386500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr20:1382400-1386000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:1382400-1388400	Weak transcription	Placenta	Placenta
4	chr20:1383200-1388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr20:1383600-1385600	Weak transcription	Fetal Intestine Large	intestine
6	chr20:1383800-1396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:1384400-1395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:1384400-1396000	Weak transcription	HMEC	breast
9	chr20:1385600-1387800	Enhancers	Fetal Intestine Large	intestine
10	chr20:1385800-1387600	Enhancers	Fetal Intestine Small	intestine
11	chr20:1386200-1386400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr20:1388400-1389000	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:1388400-1389200	Enhancers	Placenta	Placenta
14	chr20:1389000-1396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr20:1389200-1396400	Weak transcription	Placenta	Placenta
16	chr20:1390200-1390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:1390600-1396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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