Variant report

Variant	nsv585874
Chromosome Location	chr20:29633277-29651821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1157)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:29633241-29633535	K562	blood:	n/a	n/a
2	ARID3A	chr20:29637221-29638826	K562	blood:	n/a	chr20:29637380-29637396
3	ARID3A	chr20:29633844-29634865	K562	blood:	n/a	n/a
4	ATF1	chr20:29633094-29633439	K562	blood:	n/a	n/a
5	ATF1	chr20:29636917-29638762	K562	blood:	n/a	n/a
6	ATF1	chr20:29634000-29635084	K562	blood:	n/a	n/a
7	ATF1	chr20:29646142-29647360	K562	blood:	n/a	n/a
8	ATF1	chr20:29645664-29645716	K562	blood:	n/a	n/a
9	ATF1	chr20:29647981-29652560	K562	blood:	n/a	n/a
10	ATF1	chr20:29635802-29636715	K562	blood:	n/a	n/a
11	ATF3	chr20:29646268-29646613	HepG2	liver:	n/a	n/a
12	ATF3	chr20:29634301-29635008	K562	blood:	n/a	n/a
13	BACH1	chr20:29646169-29647479	K562	blood:	n/a	n/a
14	BACH1	chr20:29637077-29638701	K562	blood:	n/a	n/a
15	BACH1	chr20:29641718-29641864	K562	blood:	n/a	n/a
16	BACH1	chr20:29633229-29633394	K562	blood:	n/a	n/a
17	BACH1	chr20:29634553-29634919	K562	blood:	n/a	n/a
18	BACH1	chr20:29633874-29634317	K562	blood:	n/a	n/a
19	BACH1	chr20:29635785-29636744	K562	blood:	n/a	n/a
20	BACH1	chr20:29647962-29651120	K562	blood:	n/a	n/a
21	BATF	chr20:29641562-29641849	GM12878	blood:	n/a	n/a
22	BATF	chr20:29641563-29641848	GM12878	blood:	n/a	n/a
23	BCL11A	chr20:29646320-29646587	GM12878	blood:	n/a	n/a
24	BDP1	chr20:29635832-29636262	Hela-S3	cervix:	n/a	n/a
25	BDP1	chr20:29634596-29634921	Hela-S3	cervix:	n/a	n/a
26	BDP1	chr20:29651457-29652003	Hela-S3	cervix:	n/a	n/a
27	BDP1	chr20:29637812-29638135	Hela-S3	cervix:	n/a	n/a
28	BDP1	chr20:29649498-29650495	Hela-S3	cervix:	n/a	n/a
29	BDP1	chr20:29646713-29647142	Hela-S3	cervix:	n/a	n/a
30	BDP1	chr20:29648108-29648462	Hela-S3	cervix:	n/a	n/a
31	BHLHE40	chr20:29641664-29641864	GM12878	blood:	n/a	n/a
32	BHLHE40	chr20:29646489-29647315	GM12878	blood:	n/a	n/a
33	BHLHE40	chr20:29646170-29646593	K562	blood:	n/a	n/a
34	BHLHE40	chr20:29637091-29638725	GM12878	blood:	n/a	n/a
35	BHLHE40	chr20:29634549-29634907	K562	blood:	n/a	n/a
36	BRCA1	chr20:29634403-29635017	HepG2	liver:	n/a	n/a
37	BRCA1	chr20:29646203-29647376	GM12878	blood:	n/a	n/a
38	BRCA1	chr20:29651561-29652337	HepG2	liver:	n/a	n/a
39	BRCA1	chr20:29636643-29636736	HepG2	liver:	n/a	n/a
40	BRCA1	chr20:29635935-29636411	HepG2	liver:	n/a	n/a
41	BRCA1	chr20:29646191-29647429	HepG2	liver:	n/a	n/a
42	BRCA1	chr20:29650167-29650689	GM12878	blood:	n/a	n/a
43	BRCA1	chr20:29649978-29651008	HepG2	liver:	n/a	n/a
44	BRCA1	chr20:29635810-29636703	GM12878	blood:	n/a	n/a
45	BRCA1	chr20:29637677-29638049	GM12878	blood:	n/a	n/a
46	BRCA1	chr20:29647974-29648847	GM12878	blood:	n/a	n/a
47	BRCA1	chr20:29651607-29652406	GM12878	blood:	n/a	n/a
48	BRCA1	chr20:29634713-29634933	GM12878	blood:	n/a	n/a
49	BRCA1	chr20:29651138-29651140	GM12878	blood:	n/a	n/a
50	BRCA1	chr20:29649613-29649802	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:29635538..29636169-chr9:68425739..68426630,2	MCF-7	breast:
2	chr20:29634674..29636233-chr4:190890902..190893775,2	K562	blood:
3	chr20:29636048..29637003-chr4:190893089..190893743,2	MCF-7	breast:
4	chr20:29636068..29638048-chr4:190894138..190896351,4	K562	blood:
5	chr20:29634837..29636605-chr9:68424534..68426260,2	K562	blood:
6	chr20:29637616..29639102-chr4:190894557..190895938,8	MCF-7	breast:
7	chr20:29637498..29638875-chr4:190894757..190896186,13	MCF-7	breast:
8	chr20:29651302..29655109-chr4:190200289..190204267,7	MCF-7	breast:
9	chr17:57928426..57930583-chr20:29648016..29650833,2	MCF-7	breast:
10	chr20:29635757..29636455-chr9:68425529..68426032,2	MCF-7	breast:
11	chr20:29637719..29639568-chr20:29640126..29641910,2	MCF-7	breast:
12	chr20:29633490..29636802-chr9:68424473..68428627,9	MCF-7	breast:
13	chr20:29640916..29641744-chr4:190895394..190895909,2	MCF-7	breast:
14	chr20:29651605..29654949-chr9:68424375..68427399,3	K562	blood:
15	chr20:29634644..29639248-chr4:190892116..190896171,7	MCF-7	breast:
16	chr10:113002950..113005949-chr20:29648447..29650404,2	MCF-7	breast:
17	chr20:29634371..29640092-chr4:190891314..190895900,7	MCF-7	breast:
18	chr20:29648837..29650968-chr4:190200962..190202931,2	K562	blood:
19	chr20:29637783..29638776-chr4:190894346..190895390,3	MCF-7	breast:
20	chr20:29649886..29650594-chr4:190203631..190204210,2	MCF-7	breast:
21	chr20:29635971..29637948-chr4:190894580..190896098,2	K562	blood:
22	chr20:29651730..29655376-chr4:190199207..190202601,7	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	chr20:29638246-29638813	ENSG00000223346
4	lnc-FRG1B-1	chr20:29641421-29641792	ENSG00000223346

No data

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

Extended variants
information (count: 2835 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2835 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12162453	chr20:29633277-29633278	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141937993	chr20:29633304-29633305	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73605279	chr20:29633320-29633321	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs73605280	chr20:29633328-29633329	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575041911	chr20:29633334-29633335	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs73605281	chr20:29633341-29633342	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73605282	chr20:29633352-29633353	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs139137210	chr20:29633357-29633358	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372253407	chr20:29633359-29633360	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73605283	chr20:29633362-29633363	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs554102043	chr20:29633382-29633383	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs68003139	chr20:29633383-29633384	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs149931835	chr20:29633396-29633397	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143995402	chr20:29633397-29633398	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574351464	chr20:29633400-29633401	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111490175	chr20:29633406-29633407	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370138497	chr20:29633425-29633426	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191236608	chr20:29633431-29633432	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62196371	chr20:29633478-29633479	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201388905	chr20:29633479-29633480	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs559832608	chr20:29633510-29633511	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112719088	chr20:29633515-29633516	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573366788	chr20:29633530-29633531	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs376375407	chr20:29633532-29633533	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs73605285	chr20:29633541-29633542	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565371212	chr20:29633542-29633543	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370750974	chr20:29633547-29633548	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73605286	chr20:29633553-29633554	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs66612407	chr20:29633558-29633559	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530987228	chr20:29633562-29633563	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76114825	chr20:29633574-29633575	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs80166103	chr20:29633580-29633581	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35821765	chr20:29633583-29633584	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs73605287	chr20:29633605-29633606	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73605288	chr20:29633617-29633618	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs74741757	chr20:29633621-29633622	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200159701	chr20:29633628-29633629	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561238590	chr20:29633636-29633637	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs6087302	chr20:29633637-29633638	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78274914	chr20:29633638-29633639	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375282027	chr20:29633642-29633643	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs73605289	chr20:29633644-29633645	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs76866559	chr20:29633660-29633661	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368523821	chr20:29633664-29633665	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs145025460	chr20:29633666-29633667	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371070953	chr20:29633671-29633672	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559805123	chr20:29633678-29633679	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201018366	chr20:29633681-29633682	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111955769	chr20:29633683-29633684	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199961340	chr20:29633715-29633716	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29613200-29634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:29622400-29634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr20:29623400-29634600	Weak transcription	Right Ventricle	heart
8	chr20:29625600-29639000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr20:29625800-29639000	ZNF genes & repeats	HepG2	liver
10	chr20:29626600-29640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:29627800-29633400	ZNF genes & repeats	NHDF-Ad	bronchial
12	chr20:29628000-29639000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr20:29628400-29633600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:29628400-29638800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr20:29628400-29639000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr20:29628600-29637200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
17	chr20:29629000-29634400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr20:29629000-29634600	Strong transcription	K562	blood
19	chr20:29630200-29634400	Weak transcription	Fetal Intestine Large	intestine
20	chr20:29630400-29634400	Weak transcription	Right Atrium	heart
21	chr20:29630600-29633400	ZNF genes & repeats	HSMM	muscle
22	chr20:29630600-29633600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr20:29630600-29638800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
24	chr20:29630600-29639000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr20:29631000-29634400	Weak transcription	Left Ventricle	heart
26	chr20:29631000-29634600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr20:29631200-29634200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr20:29631200-29634200	Weak transcription	Brain Angular Gyrus	brain
29	chr20:29631200-29634200	Weak transcription	NH-A	brain
30	chr20:29631200-29634400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr20:29631200-29634600	Weak transcription	Brain Hippocampus Middle	brain
32	chr20:29631200-29634600	Weak transcription	Colon Smooth Muscle	Colon
33	chr20:29631200-29634600	Weak transcription	Stomach Mucosa	stomach
34	chr20:29631800-29633400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:29631800-29639000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:29632000-29633400	Strong transcription	Liver	Liver
37	chr20:29632000-29634200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr20:29632000-29634200	Weak transcription	Adipose Nuclei	Adipose
39	chr20:29632000-29634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr20:29632000-29634400	Weak transcription	Lung	lung
41	chr20:29632000-29634600	Weak transcription	HSMMtube	muscle
42	chr20:29632200-29634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:29632200-29634000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr20:29632200-29634200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:29632200-29634200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr20:29632200-29634400	Weak transcription	Ovary	ovary
47	chr20:29632200-29634400	Weak transcription	Pancreas	Pancrea
48	chr20:29632200-29634400	Weak transcription	Small Intestine	intestine
49	chr20:29632200-29634400	Weak transcription	Thymus	Thymus
50	chr20:29632200-29634400	Weak transcription	Spleen	Spleen

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