Variant report

Variant	esv3453894
Chromosome Location	chr20:1387152-1392750
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:1)
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	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
2	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
3	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
4	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
5	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
6	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:
7	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
8	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:

(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: 195 )
Associated
traits (count: 65 )

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	rs565754997	chr20:1387162-1387163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534589912	chr20:1387199-1387200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190128994	chr20:1387208-1387209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141255269	chr20:1387227-1387228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535160466	chr20:1387257-1387258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182080081	chr20:1387263-1387264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34712335	chr20:1387266-1387267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529745065	chr20:1387267-1387268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546624623	chr20:1387334-1387335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6079012	chr20:1387340-1387341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538206272	chr20:1387356-1387357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6079013	chr20:1387366-1387367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs58475841	chr20:1387369-1387370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186711567	chr20:1387393-1387394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371680687	chr20:1387422-1387423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77471927	chr20:1387461-1387462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8124855	chr20:1387475-1387476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192386480	chr20:1387495-1387496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534324007	chr20:1387497-1387498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13037197	chr20:1387509-1387510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6079015	chr20:1387621-1387622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1474880	chr20:1387658-1387659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs6131468	chr20:1387687-1387688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs545390404	chr20:1387691-1387692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185476282	chr20:1387705-1387706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575596135	chr20:1387710-1387711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150761559	chr20:1387731-1387732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6074593	chr20:1387771-1387772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139095232	chr20:1387824-1387825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144027390	chr20:1387886-1387887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559782453	chr20:1387893-1387894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6514382	chr20:1387918-1387919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs551735226	chr20:1387939-1387940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189198852	chr20:1387948-1387949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6514383	chr20:1387950-1387951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371812234	chr20:1387988-1387989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145944823	chr20:1388063-1388064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6109825	chr20:1388068-1388069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7270038	chr20:1388096-1388097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6105079	chr20:1388170-1388171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139805194	chr20:1388185-1388186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114191219	chr20:1388200-1388201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4814229	chr20:1388219-1388220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs4814230	chr20:1388312-1388313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373833210	chr20:1388313-1388314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555185872	chr20:1388323-1388324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545489871	chr20:1388360-1388361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574561774	chr20:1388397-1388398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4814231	chr20:1388425-1388426	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559845170	chr20:1388433-1388434	Weak transcription Enhancers Strong transcription	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:14 , 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	chr20:1385800-1387600	Enhancers	Fetal Intestine Small	intestine
9	chr20:1388400-1389000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:1388400-1389200	Enhancers	Placenta	Placenta
11	chr20:1389000-1396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr20:1389200-1396400	Weak transcription	Placenta	Placenta
13	chr20:1390200-1390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:1390600-1396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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