Variant report

Variant	nsv432095
Chromosome Location	chr20:1382500-1420340
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:57)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:
2	chr20:1309378..1311616-chr20:1396285..1399669,3	MCF-7	breast:
3	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
4	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
5	chr20:1406951..1409518-chr20:1413752..1415775,2	K562	blood:
6	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
7	chr20:1396270..1398331-chr20:1415556..1418372,2	K562	blood:
8	chr20:1409886..1412172-chr20:1413671..1415589,2	K562	blood:
9	chr20:1403838..1406635-chr20:1407133..1408659,2	K562	blood:
10	chr20:1396677..1398342-chr20:1402611..1404331,2	MCF-7	breast:
11	chr20:1372764..1374884-chr20:1397366..1399828,3	MCF-7	breast:
12	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
13	chr20:1397834..1399758-chr20:1450418..1453215,2	K562	blood:
14	chr20:1397101..1400734-chr20:1402092..1406050,4	K562	blood:
15	chr20:1408801..1411564-chr20:1423013..1426503,3	K562	blood:
16	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:
17	chr20:1414416..1417829-chr20:1445784..1450800,6	K562	blood:
18	chr20:1405279..1407726-chr20:1449432..1451429,2	K562	blood:
19	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:
20	chr20:1408022..1413976-chr20:1445856..1450713,7	K562	blood:
21	chr20:1396270..1398331-chr20:1415556..1418372,2	K562	blood:
22	chr20:1404065..1404923-chr20:1483919..1484896,2	K562	blood:
23	chr20:1417607..1420469-chr20:1423578..1425297,2	K562	blood:
24	chr20:1413566..1416812-chr20:1419779..1424298,4	K562	blood:
25	chr20:1413566..1416812-chr20:1419779..1424298,4	K562	blood:
26	chr20:796373..797348-chr20:1417637..1418217,2	K562	blood:
27	chr20:1418412..1420201-chr20:1482742..1485316,2	K562	blood:
28	chr20:1406951..1409518-chr20:1413752..1415775,2	K562	blood:
29	chr20:1405728..1407229-chr20:1414214..1416774,2	MCF-7	breast:
30	chr20:1304574..1306455-chr20:1396562..1398195,2	MCF-7	breast:
31	chr20:1418229..1420990-chr20:1423275..1425647,2	MCF-7	breast:
32	chr20:1405728..1407229-chr20:1414214..1416774,2	MCF-7	breast:
33	chr20:1370272..1370827-chr20:1420141..1420942,2	MCF-7	breast:
34	chr20:1397101..1400734-chr20:1402092..1406050,4	K562	blood:
35	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
36	chr20:1397917..1400734-chr20:1402889..1405956,3	K562	blood:
37	chr20:1407808..1408337-chr20:1484352..1484862,2	MCF-7	breast:
38	chr20:1408581..1410916-chr20:1448637..1451105,2	K562	blood:
39	chr20:1409886..1412172-chr20:1413671..1415589,2	K562	blood:
40	chr20:1413774..1421620-chr20:1445657..1450800,12	K562	blood:
41	chr20:1402742..1405514-chr20:1452729..1455276,2	K562	blood:
42	chr20:1396677..1398342-chr20:1402611..1404331,2	MCF-7	breast:
43	chr20:1418150..1421031-chr20:1445969..1448576,3	MCF-7	breast:
44	chr20:1396772..1399275-chr20:1445760..1448572,2	MCF-7	breast:
45	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:
46	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
47	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:
48	chr20:1403838..1406635-chr20:1407133..1408659,2	K562	blood:
49	chr20:1308822..1311082-chr20:1395748..1398133,2	MCF-7	breast:
50	chr20:1397917..1400734-chr20:1402889..1405956,3	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP1A-3	chr20:1398028-1398199	NONHSAT078111
2	lnc-FKBP1A-3	chr20:1404547-1404577	NONHSAT078111
3	lnc-NSFL1C-2	chr20:1416426-1416866	NONHSAT078112
4	lnc-FKBP1A-3	chr20:1399557-1399648	NONHSAT078111
5	lnc-FKBP1A-3	chr20:1399557-1399648	NONHSAT078110
6	lnc-FKBP1A-3	chr20:1404507-1404610	NONHSAT078110
7	lnc-FKBP1A-3	chr20:1385809-1385927	NONHSAT078111
8	lnc-FKBP1A-3	chr20:1385809-1385927	NONHSAT078110
9	lnc-FKBP1A-3	chr20:1398028-1398199	NONHSAT078110
10	lnc-FKBP1A-3	chr20:1389013-1389091	NONHSAT078110

No data

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

Extended variants
information (count: 1458 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1458 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6078982	chr20:1382500-1382501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187555235	chr20:1382514-1382515	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs377757633	chr20:1382541-1382542	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs561359115	chr20:1382561-1382562	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs530310602	chr20:1382579-1382580	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs531288248	chr20:1382581-1382582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs386811606	chr20:1382664-1382665	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs192536982	chr20:1382714-1382715	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs6033664	chr20:1382746-1382747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs560663936	chr20:1382751-1382752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs527241166	chr20:1382811-1382812	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs184220266	chr20:1382822-1382823	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs6033666	chr20:1382825-1382826	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79104194	chr20:1382897-1382898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs539260668	chr20:1382901-1382902	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs6042008	chr20:1382941-1382942	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs386811607	chr20:1382954-1382955	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs6042009	chr20:1382965-1382966	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113701583	chr20:1382970-1382971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs62186867	chr20:1382983-1382984	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs190080480	chr20:1382994-1382995	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs139560000	chr20:1383022-1383023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112735922	chr20:1383023-1383024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149700820	chr20:1383038-1383039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529758488	chr20:1383054-1383055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116147886	chr20:1383064-1383065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370798599	chr20:1383108-1383109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577045046	chr20:1383146-1383147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11087049	chr20:1383173-1383174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555928286	chr20:1383211-1383212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575775910	chr20:1383230-1383231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4814222	chr20:1383276-1383277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567294858	chr20:1383289-1383290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117037952	chr20:1383301-1383302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145512262	chr20:1383312-1383313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4814223	chr20:1383325-1383326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560651811	chr20:1383326-1383327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569448407	chr20:1383370-1383371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532839704	chr20:1383442-1383443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552846151	chr20:1383493-1383494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12626072	chr20:1383506-1383507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531894411	chr20:1383682-1383683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548408615	chr20:1383721-1383722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4239709	chr20:1383729-1383730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs148414430	chr20:1383737-1383738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575627299	chr20:1383761-1383762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549890190	chr20:1383793-1383794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570451750	chr20:1383803-1383804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4814224	chr20:1383809-1383810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6134845	chr20:1383821-1383822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
4	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
10	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
11	chr20:1378800-1383200	Enhancers	Duodenum Mucosa	Duodenum
12	chr20:1379200-1382800	Weak transcription	Dnd41	blood
13	chr20:1379600-1382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:1379600-1383400	Enhancers	HMEC	breast
15	chr20:1379600-1383800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:1380000-1384400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:1380400-1382600	Enhancers	HSMM	muscle
18	chr20:1380400-1382600	Enhancers	NH-A	brain
19	chr20:1380400-1383200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr20:1380400-1383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:1380400-1383600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr20:1380400-1383600	Enhancers	Osteobl	bone
23	chr20:1380600-1383600	Enhancers	Liver	Liver
24	chr20:1380600-1383800	Enhancers	NHEK	skin
25	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr20:1380800-1382800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:1380800-1383600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr20:1381000-1383400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:1381200-1383400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr20:1381400-1383000	Bivalent Enhancer	HepG2	liver
31	chr20:1381400-1383400	Enhancers	Colonic Mucosa	Colon
32	chr20:1381800-1383000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:1381800-1383000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr20:1381800-1383800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:1382000-1383000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr20:1382200-1383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:1382200-1383000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr20:1382400-1386000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr20:1382400-1388400	Weak transcription	Placenta	Placenta
40	chr20:1382600-1383400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr20:1382800-1383200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:1382800-1383200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr20:1382800-1383200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr20:1382800-1383200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr20:1382800-1383400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr20:1382800-1383600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr20:1382800-1383800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr20:1382800-1383800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr20:1382800-1383800	Enhancers	Dnd41	blood
50	chr20:1383000-1383200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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