Variant report

Variant	esv1847243
Chromosome Location	chr20:1387658-1390682
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
2	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:
3	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
4	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
5	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
6	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 99 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1474880	chr20:1387658-1387659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6131468	chr20:1387687-1387688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs545390404	chr20:1387691-1387692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185476282	chr20:1387705-1387706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575596135	chr20:1387710-1387711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150761559	chr20:1387731-1387732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6074593	chr20:1387771-1387772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139095232	chr20:1387824-1387825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144027390	chr20:1387886-1387887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559782453	chr20:1387893-1387894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6514382	chr20:1387918-1387919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs551735226	chr20:1387939-1387940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189198852	chr20:1387948-1387949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6514383	chr20:1387950-1387951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371812234	chr20:1387988-1387989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145944823	chr20:1388063-1388064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6109825	chr20:1388068-1388069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7270038	chr20:1388096-1388097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6105079	chr20:1388170-1388171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139805194	chr20:1388185-1388186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114191219	chr20:1388200-1388201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4814229	chr20:1388219-1388220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs4814230	chr20:1388312-1388313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373833210	chr20:1388313-1388314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555185872	chr20:1388323-1388324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545489871	chr20:1388360-1388361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574561774	chr20:1388397-1388398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4814231	chr20:1388425-1388426	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559845170	chr20:1388433-1388434	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532067083	chr20:1388455-1388456	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6079018	chr20:1388576-1388577	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs562147800	chr20:1388616-1388617	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531296717	chr20:1388651-1388652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557305798	chr20:1388662-1388663	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551004094	chr20:1388701-1388702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548351301	chr20:1388718-1388719	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143949638	chr20:1388734-1388735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6042053	chr20:1388753-1388754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145860421	chr20:1388762-1388763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370395831	chr20:1388800-1388801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6042055	chr20:1388865-1388866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547197903	chr20:1388869-1388870	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6109837	chr20:1388891-1388892	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148996499	chr20:1388906-1388907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142924779	chr20:1388907-1388908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79770845	chr20:1388934-1388935	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151081632	chr20:1388960-1388961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554590244	chr20:1389007-1389008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6042056	chr20:1389013-1389014	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs574655632	chr20:1389032-1389033	Weak transcription Enhancers	lncRNA	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:13 , 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	chr20:1382400-1388400	Weak transcription	Placenta	Placenta
3	chr20:1383200-1388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:1383800-1396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:1384400-1395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:1384400-1396000	Weak transcription	HMEC	breast
7	chr20:1385600-1387800	Enhancers	Fetal Intestine Large	intestine
8	chr20:1388400-1389000	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:1388400-1389200	Enhancers	Placenta	Placenta
10	chr20:1389000-1396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:1389200-1396400	Weak transcription	Placenta	Placenta
12	chr20:1390200-1390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:1390600-1396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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