Variant report

Variant	esv1817885
Chromosome Location	chr20:1386940-1400227
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:22)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1396772..1399275-chr20:1445760..1448572,2	MCF-7	breast:
2	chr20:1309378..1311616-chr20:1396285..1399669,3	MCF-7	breast:
3	chr20:1397917..1400734-chr20:1402889..1405956,3	K562	blood:
4	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
5	chr20:1308822..1311082-chr20:1395748..1398133,2	MCF-7	breast:
6	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
7	chr20:1396270..1398331-chr20:1415556..1418372,2	K562	blood:
8	chr20:1304574..1306455-chr20:1396562..1398195,2	MCF-7	breast:
9	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
10	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:
11	chr20:1372637..1374927-chr20:1395955..1398431,2	K562	blood:
12	chr20:1396677..1398342-chr20:1402611..1404331,2	MCF-7	breast:
13	chr20:1397101..1400734-chr20:1402092..1406050,4	K562	blood:
14	chr20:1372764..1374884-chr20:1397366..1399828,3	MCF-7	breast:
15	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:
16	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
17	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
18	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:
19	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
20	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
21	chr20:1397834..1399758-chr20:1450418..1453215,2	K562	blood:
22	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP1A-3	chr20:1399557-1399648	NONHSAT078110
2	lnc-FKBP1A-3	chr20:1398028-1398199	NONHSAT078110
3	lnc-FKBP1A-3	chr20:1389013-1389091	NONHSAT078110
4	lnc-FKBP1A-3	chr20:1398028-1398199	NONHSAT078111
5	lnc-FKBP1A-3	chr20:1399557-1399648	NONHSAT078111

No data

Variant related genes	Relation type
ENSG00000234684	chromatin interactions
ENSG00000125775	chromatin interactions
ENSG00000088832	chromatin interactions
ENSG00000088833	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1998007	chr20:1386940-1386941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35162778	chr20:1386996-1386997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6079009	chr20:1387039-1387040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6109819	chr20:1387057-1387058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6079010	chr20:1387092-1387093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573226675	chr20:1387111-1387112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545329354	chr20:1387113-1387114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565754997	chr20:1387162-1387163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534589912	chr20:1387199-1387200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190128994	chr20:1387208-1387209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141255269	chr20:1387227-1387228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535160466	chr20:1387257-1387258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182080081	chr20:1387263-1387264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34712335	chr20:1387266-1387267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529745065	chr20:1387267-1387268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546624623	chr20:1387334-1387335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6079012	chr20:1387340-1387341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs538206272	chr20:1387356-1387357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6079013	chr20:1387366-1387367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs58475841	chr20:1387369-1387370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186711567	chr20:1387393-1387394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371680687	chr20:1387422-1387423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77471927	chr20:1387461-1387462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8124855	chr20:1387475-1387476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192386480	chr20:1387495-1387496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534324007	chr20:1387497-1387498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13037197	chr20:1387509-1387510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6079015	chr20:1387621-1387622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1474880	chr20:1387658-1387659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs6131468	chr20:1387687-1387688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs545390404	chr20:1387691-1387692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185476282	chr20:1387705-1387706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575596135	chr20:1387710-1387711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150761559	chr20:1387731-1387732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6074593	chr20:1387771-1387772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139095232	chr20:1387824-1387825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144027390	chr20:1387886-1387887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559782453	chr20:1387893-1387894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6514382	chr20:1387918-1387919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs551735226	chr20:1387939-1387940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189198852	chr20:1387948-1387949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6514383	chr20:1387950-1387951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371812234	chr20:1387988-1387989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145944823	chr20:1388063-1388064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6109825	chr20:1388068-1388069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7270038	chr20:1388096-1388097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6105079	chr20:1388170-1388171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139805194	chr20:1388185-1388186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114191219	chr20:1388200-1388201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4814229	chr20:1388219-1388220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:100 , 50 per page) page: 1 2

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
15	chr20:1394400-1394600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:1395000-1396200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:1395600-1395800	Flanking Active TSS	A549	lung
18	chr20:1395600-1397200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr20:1395600-1398000	Weak transcription	Spleen	Spleen
20	chr20:1395600-1399600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:1395600-1399800	Enhancers	NHLF	lung
22	chr20:1395600-1400000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:1395600-1400000	Enhancers	NHDF-Ad	bronchial
24	chr20:1395600-1400200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:1395800-1396200	Active TSS	A549	lung
26	chr20:1395800-1396600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:1396000-1397600	Enhancers	HMEC	breast
28	chr20:1396000-1398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:1396200-1396600	Enhancers	A549	lung
30	chr20:1396200-1399600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr20:1396400-1396800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr20:1396400-1397000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr20:1396400-1397000	Enhancers	NHEK	skin
34	chr20:1396400-1397200	Enhancers	K562	blood
35	chr20:1396400-1398000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr20:1396400-1398400	Enhancers	Hela-S3	cervix
37	chr20:1396400-1399400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr20:1396400-1399600	Enhancers	NH-A	brain
39	chr20:1396400-1400000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:1396400-1400000	Enhancers	Placenta	Placenta
41	chr20:1396400-1400000	Enhancers	HUVEC	blood vessel
42	chr20:1396400-1400000	Enhancers	Osteobl	bone
43	chr20:1396600-1397000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr20:1396600-1397000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:1396600-1397000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr20:1396600-1397200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr20:1396600-1397200	Flanking Active TSS	A549	lung
48	chr20:1396600-1397800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:1396600-1398200	Bivalent Enhancer	HepG2	liver
50	chr20:1396600-1399400	Enhancers	Placenta Amnion	Placenta Amnion

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