Variant report

Variant	nsv585873
Chromosome Location	chr20:29616742-29651821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1855)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:29627540-29627876	K562	blood:	n/a	n/a
2	ARID3A	chr20:29637221-29638826	K562	blood:	n/a	chr20:29637380-29637396
3	ARID3A	chr20:29622471-29622991	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:29620583-29620956	K562	blood:	n/a	chr20:29620815-29620831
5	ARID3A	chr20:29631123-29631286	K562	blood:	n/a	n/a
6	ARID3A	chr20:29632785-29632962	K562	blood:	n/a	n/a
7	ARID3A	chr20:29633241-29633535	K562	blood:	n/a	n/a
8	ARID3A	chr20:29628524-29629135	K562	blood:	n/a	chr20:29628683-29628699
9	ARID3A	chr20:29630626-29630814	K562	blood:	n/a	n/a
10	ARID3A	chr20:29633844-29634865	K562	blood:	n/a	n/a
11	ARID3A	chr20:29629422-29629654	K562	blood:	n/a	n/a
12	ATF1	chr20:29645664-29645716	K562	blood:	n/a	n/a
13	ATF1	chr20:29625665-29625843	K562	blood:	n/a	n/a
14	ATF1	chr20:29629679-29629821	K562	blood:	n/a	n/a
15	ATF1	chr20:29636917-29638762	K562	blood:	n/a	n/a
16	ATF1	chr20:29622631-29622824	K562	blood:	n/a	n/a
17	ATF1	chr20:29630621-29630981	K562	blood:	n/a	n/a
18	ATF1	chr20:29634000-29635084	K562	blood:	n/a	n/a
19	ATF1	chr20:29626100-29626288	K562	blood:	n/a	n/a
20	ATF1	chr20:29621820-29621934	K562	blood:	n/a	n/a
21	ATF1	chr20:29630171-29630348	K562	blood:	n/a	n/a
22	ATF1	chr20:29627360-29627533	K562	blood:	n/a	n/a
23	ATF1	chr20:29626546-29626747	K562	blood:	n/a	n/a
24	ATF1	chr20:29628542-29628871	K562	blood:	n/a	n/a
25	ATF1	chr20:29619091-29619138	K562	blood:	n/a	n/a
26	ATF1	chr20:29647981-29652560	K562	blood:	n/a	n/a
27	ATF1	chr20:29646142-29647360	K562	blood:	n/a	n/a
28	ATF1	chr20:29633094-29633439	K562	blood:	n/a	n/a
29	ATF1	chr20:29620111-29620173	K562	blood:	n/a	n/a
30	ATF1	chr20:29635802-29636715	K562	blood:	n/a	n/a
31	ATF1	chr20:29631255-29631264	K562	blood:	n/a	n/a
32	ATF3	chr20:29634301-29635008	K562	blood:	n/a	n/a
33	ATF3	chr20:29646268-29646613	HepG2	liver:	n/a	n/a
34	BACH1	chr20:29646169-29647479	K562	blood:	n/a	n/a
35	BACH1	chr20:29630164-29630353	K562	blood:	n/a	n/a
36	BACH1	chr20:29620689-29620969	K562	blood:	n/a	n/a
37	BACH1	chr20:29628551-29628899	K562	blood:	n/a	n/a
38	BACH1	chr20:29641718-29641864	K562	blood:	n/a	n/a
39	BACH1	chr20:29635785-29636744	K562	blood:	n/a	n/a
40	BACH1	chr20:29647962-29651120	K562	blood:	n/a	n/a
41	BACH1	chr20:29633229-29633394	K562	blood:	n/a	n/a
42	BACH1	chr20:29634553-29634919	K562	blood:	n/a	n/a
43	BACH1	chr20:29631955-29631976	K562	blood:	n/a	n/a
44	BACH1	chr20:29633874-29634317	K562	blood:	n/a	n/a
45	BACH1	chr20:29630967-29631318	K562	blood:	n/a	n/a
46	BACH1	chr20:29637077-29638701	K562	blood:	n/a	n/a
47	BACH1	chr20:29632677-29632952	K562	blood:	n/a	n/a
48	BATF	chr20:29641563-29641848	GM12878	blood:	n/a	n/a
49	BATF	chr20:29620942-29621187	GM12878	blood:	n/a	n/a
50	BATF	chr20:29629584-29629961	GM12878	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:29634644..29639248-chr4:190892116..190896171,7	MCF-7	breast:
2	chr20:29637783..29638776-chr4:190894346..190895390,3	MCF-7	breast:
3	chr20:29640916..29641744-chr4:190895394..190895909,2	MCF-7	breast:
4	chr20:29626530..29628486-chr9:68434110..68435636,2	MCF-7	breast:
5	chr20:29634371..29640092-chr4:190891314..190895900,7	MCF-7	breast:
6	chr20:29636048..29637003-chr4:190893089..190893743,2	MCF-7	breast:
7	chr20:29633490..29636802-chr9:68424473..68428627,9	MCF-7	breast:
8	chr20:29648837..29650968-chr4:190200962..190202931,2	K562	blood:
9	chr10:113002950..113005949-chr20:29648447..29650404,2	MCF-7	breast:
10	chr20:29637616..29639102-chr4:190894557..190895938,8	MCF-7	breast:
11	chr20:29651730..29655376-chr4:190199207..190202601,7	MCF-7	breast:
12	chr20:29635971..29637948-chr4:190894580..190896098,2	K562	blood:
13	chr20:29635538..29636169-chr9:68425739..68426630,2	MCF-7	breast:
14	chr20:29636068..29638048-chr4:190894138..190896351,4	K562	blood:
15	chr20:29651605..29654949-chr9:68424375..68427399,3	K562	blood:
16	chr20:29635757..29636455-chr9:68425529..68426032,2	MCF-7	breast:
17	chr20:29625984..29631616-chr9:68431406..68435615,4	MCF-7	breast:
18	chr20:29637498..29638875-chr4:190894757..190896186,13	MCF-7	breast:
19	chr20:29634837..29636605-chr9:68424534..68426260,2	K562	blood:
20	chr20:29651302..29655109-chr4:190200289..190204267,7	MCF-7	breast:
21	chr20:29649886..29650594-chr4:190203631..190204210,2	MCF-7	breast:
22	chr20:29634674..29636233-chr4:190890902..190893775,2	K562	blood:
23	chr20:29637719..29639568-chr20:29640126..29641910,2	MCF-7	breast:
24	chr17:57928426..57930583-chr20:29648016..29650833,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-7	chr20:29637584-29638138	NONHSAT079280
2	lnc-DEFB116-7	chr20:29637799-29638060	NONHSAT147162
3	lnc-FRG1B-1	chr20:29641421-29641792	ENSG00000223346
4	lnc-FRG1B-1	chr20:29638246-29638813	ENSG00000223346

No data

Variant related genes	Relation type
FRG1B	TF binding region
ENSG00000221319	TF binding region
MLLT10P1	TF binding region
ENSG00000249462	chromatin interactions
ENSG00000238151	chromatin interactions

Extended variants
information (count: 4923 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4923 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28429072	chr20:29616742-29616743	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4892349	chr20:29616758-29616759	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73618230	chr20:29616759-29616760	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79707465	chr20:29616762-29616763	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4892350	chr20:29616764-29616765	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62198279	chr20:29616782-29616783	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112358426	chr20:29616783-29616784	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368223960	chr20:29616788-29616789	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73618231	chr20:29616789-29616790	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375254769	chr20:29616793-29616794	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369589869	chr20:29616794-29616795	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373033546	chr20:29616818-29616819	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113139627	chr20:29616833-29616834	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181408101	chr20:29616864-29616865	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9647040	chr20:29616875-29616876	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530474199	chr20:29616885-29616886	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547193807	chr20:29616889-29616890	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560702829	chr20:29616893-29616894	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80265061	chr20:29616898-29616899	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75613695	chr20:29616913-29616914	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs68125239	chr20:29616914-29616915	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532770879	chr20:29616922-29616923	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552676764	chr20:29616930-29616931	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185428627	chr20:29616931-29616932	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73621647	chr20:29616935-29616936	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73621648	chr20:29616941-29616942	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111672443	chr20:29616942-29616943	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376231132	chr20:29616950-29616951	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369753969	chr20:29616959-29616960	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74652268	chr20:29616971-29616972	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189894008	chr20:29616972-29616973	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202120805	chr20:29616982-29616983	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180760472	chr20:29617020-29617021	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569381338	chr20:29617026-29617027	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9647041	chr20:29617042-29617043	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537840851	chr20:29617055-29617056	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548610887	chr20:29617060-29617061	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6141200	chr20:29617071-29617072	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139924359	chr20:29617077-29617078	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62198280	chr20:29617080-29617081	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568242682	chr20:29617130-29617131	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6087276	chr20:29617131-29617132	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74555423	chr20:29617143-29617144	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78328124	chr20:29617149-29617150	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534126598	chr20:29617167-29617168	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3178195	chr20:29617169-29617170	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77928752	chr20:29617187-29617188	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6087277	chr20:29617215-29617216	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78858017	chr20:29617223-29617224	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376510260	chr20:29617226-29617227	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1267 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29612600-29616800	Weak transcription	Fetal Intestine Large	intestine
2	chr20:29612600-29618600	Weak transcription	Pancreas	Pancrea
3	chr20:29612600-29622400	Weak transcription	Aorta	Aorta
4	chr20:29613000-29617200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr20:29613000-29617200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr20:29613200-29634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:29613600-29618800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr20:29613600-29619800	Weak transcription	Brain Angular Gyrus	brain
9	chr20:29613600-29622400	Weak transcription	Left Ventricle	heart
10	chr20:29613600-29622400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr20:29613600-29630600	Weak transcription	Colon Smooth Muscle	Colon
12	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:29613800-29618800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr20:29613800-29620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr20:29615600-29616800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr20:29615600-29617400	Enhancers	Dnd41	blood
19	chr20:29616000-29617000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr20:29616000-29617400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:29616000-29617400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr20:29616000-29617400	ZNF genes & repeats	HepG2	liver
23	chr20:29616000-29625200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr20:29616200-29616800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr20:29616200-29617400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr20:29616400-29617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr20:29616400-29618400	Weak transcription	Psoas Muscle	Psoas
28	chr20:29616400-29618400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr20:29616400-29619000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr20:29616400-29619600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr20:29616400-29619800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:29616400-29621000	Weak transcription	Small Intestine	intestine
33	chr20:29616400-29622400	Weak transcription	Gastric	stomach
34	chr20:29616400-29626600	Weak transcription	Brain Substantia Nigra	brain
35	chr20:29616400-29626600	Weak transcription	HSMMtube	muscle
36	chr20:29616600-29617000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr20:29616600-29617200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr20:29616600-29618400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr20:29616600-29618400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr20:29616600-29618400	Weak transcription	K562	blood
41	chr20:29616600-29620600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:29616600-29620800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr20:29616800-29617200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr20:29616800-29617200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr20:29617000-29618600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr20:29617000-29619000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr20:29617200-29617400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr20:29617200-29617400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr20:29617200-29617400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr20:29617200-29617400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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