Variant report

Variant	nsv436321
Chromosome Location	chr20:29638637-29645554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:29637221-29638826	K562	blood:	n/a	chr20:29637380-29637396
2	ATF1	chr20:29636917-29638762	K562	blood:	n/a	n/a
3	BACH1	chr20:29637077-29638701	K562	blood:	n/a	n/a
4	BACH1	chr20:29641718-29641864	K562	blood:	n/a	n/a
5	BATF	chr20:29641563-29641848	GM12878	blood:	n/a	n/a
6	BATF	chr20:29641562-29641849	GM12878	blood:	n/a	n/a
7	BHLHE40	chr20:29637091-29638725	GM12878	blood:	n/a	n/a
8	BHLHE40	chr20:29641664-29641864	GM12878	blood:	n/a	n/a
9	CEBPZ	chr20:29637218-29638808	HepG2	liver:	n/a	n/a
10	CHD1	chr20:29637489-29638764	GM12878	blood:	n/a	n/a
11	CHD2	chr20:29637563-29638760	HepG2	liver:	n/a	n/a
12	CTCF	chr20:29645540-29645690	HAc	cerebellar:	n/a	n/a
13	CTCF	chr20:29638272-29638722	MCF-7	breast:	n/a	n/a
14	CTCF	chr20:29638260-29638692	HepG2	liver:	n/a	n/a
15	CTCF	chr20:29638620-29638770	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr20:29638187-29638666	K562	blood:	n/a	n/a
17	CTCF	chr20:29637082-29638763	K562	blood:	n/a	n/a
18	CTCF	chr20:29638229-29638731	MCF-7	breast:	n/a	n/a
19	CTCF	chr20:29638520-29638670	A549	lung:	n/a	n/a
20	CTCF	chr20:29638500-29638650	GM12865	blood:	n/a	n/a
21	CUX1	chr20:29637141-29638808	GM12878	blood:	n/a	n/a
22	CUX1	chr20:29637127-29638796	K562	blood:	n/a	n/a
23	CUX1	chr20:29641555-29641863	K562	blood:	n/a	n/a
24	E2F4	chr20:29638307-29638663	GM12878	blood:	n/a	n/a
25	E2F4	chr20:29637219-29638840	MCF10A-Er-Src	breast:	n/a	n/a
26	ELK1	chr20:29637478-29638807	GM12878	blood:	n/a	n/a
27	ELK1	chr20:29637171-29638767	K562	blood:	n/a	n/a
28	EP300	chr20:29637090-29638784	GM12878	blood:	n/a	chr20:29638079-29638093 chr20:29638080-29638089
29	EP300	chr20:29641612-29641819	GM12878	blood:	n/a	n/a
30	EP300	chr20:29637158-29638813	K562	blood:	n/a	chr20:29638079-29638093 chr20:29638080-29638089
31	EP300	chr20:29641500-29641865	GM12878	blood:	n/a	n/a
32	EP300	chr20:29641624-29641866	K562	blood:	n/a	n/a
33	EP300	chr20:29637126-29638794	GM12878	blood:	n/a	chr20:29638079-29638093 chr20:29638080-29638089
34	FAM48A	chr20:29637395-29638750	GM12878	blood:	n/a	n/a
35	FOS	chr20:29637040-29638838	HUVEC	blood vessel:	n/a	n/a
36	GATA1	chr20:29637215-29638812	PBDEFetal	blood:	n/a	n/a
37	GATA3	chr20:29641615-29641818	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr20:29637067-29638755	MCF-7	breast:	n/a	n/a
39	GATA3	chr20:29638292-29638794	SH-SY5Y	brain:	n/a	n/a
40	GTF3C2	chr20:29638294-29638708	Hela-S3	cervix:	n/a	n/a
41	IRF1	chr20:29641557-29641884	K562	blood:	n/a	n/a
42	IRF1	chr20:29636999-29638819	K562	blood:	n/a	chr20:29638080-29638094 chr20:29637519-29637531
43	IRF1	chr20:29636973-29638866	K562	blood:	n/a	chr20:29638080-29638094 chr20:29637519-29637531
44	IRF3	chr20:29641504-29641704	GM12878	blood:	n/a	n/a
45	IRF3	chr20:29637526-29638763	GM12878	blood:	n/a	chr20:29638080-29638094
46	JUN	chr20:29637088-29638746	K562	blood:	n/a	n/a
47	KAP1	chr20:29637066-29638872	K562	blood:	n/a	n/a
48	KAT2A	chr20:29637571-29638876	GM12878	blood:	n/a	n/a
49	MAFK	chr20:29641616-29641812	K562	blood:	n/a	n/a
50	MAX	chr20:29637425-29638753	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:29640916..29641744-chr4:190895394..190895909,2	MCF-7	breast:
2	chr20:29634371..29640092-chr4:190891314..190895900,7	MCF-7	breast:
3	chr20:29634644..29639248-chr4:190892116..190896171,7	MCF-7	breast:
4	chr20:29637498..29638875-chr4:190894757..190896186,13	MCF-7	breast:
5	chr20:29637783..29638776-chr4:190894346..190895390,3	MCF-7	breast:
6	chr20:29637616..29639102-chr4:190894557..190895938,8	MCF-7	breast:
7	chr20:29637719..29639568-chr20:29640126..29641910,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRG1B-1	chr20:29641421-29641792	ENSG00000223346
2	lnc-FRG1B-1	chr20:29638246-29638813	ENSG00000223346

No data

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

Extended variants
information (count: 789 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139947220	chr20:29638644-29638645	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs78507950	chr20:29638652-29638653	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs4300918	chr20:29638673-29638674	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs184089858	chr20:29638680-29638681	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs371471419	chr20:29638691-29638692	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs553703121	chr20:29638701-29638702	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs143296161	chr20:29638707-29638708	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs367864670	chr20:29638718-29638719	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs9679953	chr20:29638722-29638723	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs567212483	chr20:29638726-29638727	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs202049336	chr20:29638730-29638731	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs79702097	chr20:29638732-29638733	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs539350732	chr20:29638735-29638736	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs559148668	chr20:29638752-29638753	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs75307808	chr20:29638767-29638768	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs111690433	chr20:29638768-29638769	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs373547775	chr20:29638769-29638770	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs575818598	chr20:29638774-29638775	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs113640439	chr20:29638785-29638786	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs62205960	chr20:29638793-29638794	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs77939081	chr20:29638799-29638800	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs78285615	chr20:29638806-29638807	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs149475834	chr20:29638810-29638811	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs371108804	chr20:29638817-29638818	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573282438	chr20:29638821-29638822	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549200597	chr20:29638822-29638823	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147004288	chr20:29638828-29638829	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6057403	chr20:29638850-29638851	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200361275	chr20:29638868-29638869	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555078932	chr20:29638892-29638893	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116870808	chr20:29638896-29638897	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540277975	chr20:29638899-29638900	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560002469	chr20:29638901-29638902	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562460364	chr20:29638907-29638908	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551410428	chr20:29638924-29638925	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112782589	chr20:29638925-29638926	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192194273	chr20:29638929-29638930	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149507453	chr20:29638930-29638931	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144292062	chr20:29638946-29638947	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561870715	chr20:29638967-29638968	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148313207	chr20:29638973-29638974	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547376546	chr20:29638974-29638975	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183649056	chr20:29638983-29638984	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570465224	chr20:29638992-29638993	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375065064	chr20:29638997-29638998	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539311142	chr20:29639018-29639019	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552921703	chr20:29639043-29639044	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569334800	chr20:29639050-29639051	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546512961	chr20:29639062-29639063	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377344601	chr20:29639063-29639064	Weak transcription ZNF genes & repeats	Chromatin interactive 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:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29625600-29639000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr20:29625800-29639000	ZNF genes & repeats	HepG2	liver
4	chr20:29626600-29640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:29628000-29639000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr20:29628400-29638800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr20:29628400-29639000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr20:29630600-29638800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
9	chr20:29630600-29639000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr20:29631800-29639000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr20:29632400-29639000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:29632600-29638800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:29633000-29638800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
14	chr20:29633200-29639000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:29633200-29639000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr20:29633200-29639000	ZNF genes & repeats	Dnd41	blood
17	chr20:29633800-29639000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr20:29634000-29638800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr20:29634000-29638800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:29634000-29638800	ZNF genes & repeats	NHDF-Ad	bronchial
21	chr20:29634000-29639000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr20:29634200-29638800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr20:29634200-29638800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr20:29634200-29638800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr20:29634200-29638800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:29634200-29638800	ZNF genes & repeats	Fetal Brain Male	brain
27	chr20:29634200-29639000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr20:29634200-29639000	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr20:29634200-29639000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr20:29634200-29639000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
31	chr20:29634200-29639000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
32	chr20:29634200-29639000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr20:29634400-29638800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr20:29634400-29638800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:29634400-29638800	ZNF genes & repeats	HUVEC	blood vessel
36	chr20:29634400-29639000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr20:29634400-29639000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr20:29634400-29639000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr20:29634400-29639000	ZNF genes & repeats	Fetal Lung	lung
40	chr20:29634400-29640400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
41	chr20:29634600-29638800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr20:29634600-29638800	ZNF genes & repeats	Placenta	Placenta
43	chr20:29634600-29638800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
44	chr20:29635800-29638800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr20:29635800-29638800	ZNF genes & repeats	A549	lung
46	chr20:29635800-29639000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:29636200-29639800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr20:29637000-29638800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr20:29637400-29638800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:29637400-29638800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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