Variant report

Variant	esv3510472
Chromosome Location	chr20:29593506-29599414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:29597481-29597512	K562	blood:	n/a	n/a
2	ATF1	chr20:29594253-29594637	K562	blood:	n/a	n/a
3	ATF1	chr20:29597041-29597229	K562	blood:	n/a	n/a
4	CEBPB	chr20:29597043-29597054	K562	blood:	n/a	n/a
5	CEBPB	chr20:29596857-29597217	HepG2	liver:	n/a	chr20:29597036-29597047
6	CHD2	chr20:29594565-29594631	HepG2	liver:	n/a	n/a
7	CTCF	chr20:29593780-29593930	HAc	cerebellar:	n/a	n/a
8	CTCF	chr20:29596060-29596210	HAc	cerebellar:	n/a	n/a
9	CTCF	chr20:29593440-29593590	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr20:29594400-29594550	WI-38	lung:	n/a	n/a
11	CTCF	chr20:29594440-29594590	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr20:29593440-29593590	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr20:29593380-29593530	HAc	cerebellar:	n/a	n/a
14	CTCF	chr20:29594320-29594470	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr20:29594340-29594490	NHLF	lung:	n/a	n/a
16	CTCF	chr20:29594400-29594550	GM12866	blood:	n/a	n/a
17	CTCF	chr20:29594460-29594610	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr20:29593440-29593590	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr20:29593440-29593590	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr20:29594440-29594590	GM12867	blood:	n/a	n/a
21	CUX1	chr20:29598402-29598411	K562	blood:	n/a	n/a
22	CUX1	chr20:29594560-29594593	GM12878	blood:	n/a	n/a
23	EP300	chr20:29596943-29597183	GM12878	blood:	n/a	chr20:29597033-29597047
24	EP300	chr20:29592344-29593584	GM12878	blood:	n/a	chr20:29592730-29592743 chr20:29592626-29592640
25	GATA3	chr20:29593140-29593563	SH-SY5Y	brain:	n/a	chr20:29593400-29593407 chr20:29593393-29593414 chr20:29593395-29593411 chr20:29593400-29593407 chr20:29593400-29593407
26	GATA3	chr20:29597512-29597646	SH-SY5Y	brain:	n/a	n/a
27	IRF1	chr20:29597196-29597228	K562	blood:	n/a	n/a
28	IRF1	chr20:29595210-29595219	K562	blood:	n/a	n/a
29	JUND	chr20:29592934-29594094	GM12878	blood:	n/a	n/a
30	MAZ	chr20:29594623-29594651	HepG2	liver:	n/a	n/a
31	MXI1	chr20:29597460-29597470	K562	blood:	n/a	n/a
32	MYC	chr20:29593055-29593522	K562	blood:	n/a	n/a
33	PAX5	chr20:29595590-29595839	GM12878	blood:	n/a	n/a
34	PBX3	chr20:29593961-29594105	GM12878	blood:	n/a	n/a
35	POLR2A	chr20:29595169-29595347	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr20:29597443-29597509	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr20:29598273-29598346	MCF10A-Er-Src	breast:	n/a	n/a
38	POU2F2	chr20:29596342-29597130	GM12878	blood:	n/a	chr20:29597023-29597036 chr20:29597023-29597036 chr20:29597016-29597037 chr20:29597023-29597036
39	POU2F2	chr20:29595190-29595866	GM12878	blood:	n/a	n/a
40	POU2F2	chr20:29594421-29594848	GM12878	blood:	n/a	n/a
41	POU2F2	chr20:29598571-29598744	GM12878	blood:	n/a	n/a
42	RCOR1	chr20:29594572-29594709	HepG2	liver:	n/a	n/a
43	RFX5	chr20:29594207-29594326	K562	blood:	n/a	n/a
44	SIN3AK20	chr20:29595624-29595797	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr20:29598596-29598748	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr20:29593935-29594085	HepG2	liver:	n/a	n/a
47	SIX5	chr20:29594961-29595246	GM12878	blood:	n/a	n/a
48	SP1	chr20:29595189-29595613	GM12878	blood:	n/a	chr20:29595600-29595607
49	SRF	chr20:29596400-29596981	GM12878	blood:	n/a	chr20:29596961-29596971
50	STAT3	chr20:29595215-29595378	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-1	chr20:29596333-29596406	ENSG00000231934.1

Variant related genes	Relation type
ENSG00000231934	TF binding region

Extended variants
information (count: 766 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:766 , 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	rs550706108	chr20:29593507-29593508	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73608861	chr20:29593513-29593514	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73608862	chr20:29593530-29593531	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4508676	chr20:29593531-29593532	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7509371	chr20:29593543-29593544	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375776353	chr20:29593546-29593547	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74399356	chr20:29593556-29593557	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2379717	chr20:29593580-29593581	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147887151	chr20:29593608-29593609	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144976164	chr20:29593609-29593610	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62198930	chr20:29593620-29593621	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4010894	chr20:29593639-29593640	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369005177	chr20:29593651-29593652	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73608863	chr20:29593656-29593657	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148892179	chr20:29593663-29593664	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75798267	chr20:29593667-29593668	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373243821	chr20:29593679-29593680	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375232862	chr20:29593689-29593690	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369377290	chr20:29593692-29593693	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34735756	chr20:29593693-29593694	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73608864	chr20:29593697-29593698	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35084316	chr20:29593700-29593701	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs66685488	chr20:29593708-29593709	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73608865	chr20:29593713-29593714	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73608866	chr20:29593742-29593743	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2890232	chr20:29593743-29593744	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201640792	chr20:29593752-29593753	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73620378	chr20:29593773-29593774	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs398088399	chr20:29593775-29593776	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73608867	chr20:29593779-29593780	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566604434	chr20:29593780-29593781	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73608868	chr20:29593823-29593824	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73608869	chr20:29593825-29593826	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200183985	chr20:29593828-29593829	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185041301	chr20:29593829-29593830	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143503314	chr20:29593840-29593841	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552394792	chr20:29593857-29593858	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73608870	chr20:29593869-29593870	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189004724	chr20:29593871-29593872	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73608871	chr20:29593888-29593889	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76597272	chr20:29593905-29593906	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200055278	chr20:29593908-29593909	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73608872	chr20:29593919-29593920	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73608873	chr20:29593920-29593921	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73608874	chr20:29593930-29593931	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376300893	chr20:29593931-29593932	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73608875	chr20:29593934-29593935	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569121047	chr20:29593935-29593936	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372331466	chr20:29593944-29593945	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73608876	chr20:29593949-29593950	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29580600-29602600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr20:29581800-29598800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:29589000-29594000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr20:29591200-29595800	Enhancers	Dnd41	blood
5	chr20:29591400-29593600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr20:29593000-29593600	ZNF genes & repeats	Fetal Lung	lung
7	chr20:29593000-29594800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:29593200-29594400	Weak transcription	Pancreas	Pancrea
9	chr20:29593400-29594400	Weak transcription	Aorta	Aorta
10	chr20:29593400-29594400	Weak transcription	Gastric	stomach
11	chr20:29594200-29594800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr20:29594400-29594600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:29594400-29594600	Flanking Active TSS	Gastric	stomach
14	chr20:29594400-29594800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:29594400-29594800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:29594400-29594800	ZNF genes & repeats	Aorta	Aorta
17	chr20:29594400-29594800	ZNF genes & repeats	Pancreas	Pancrea
18	chr20:29594600-29594800	ZNF genes & repeats	Gastric	stomach
19	chr20:29594800-29595600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:29594800-29595600	Weak transcription	Pancreas	Pancrea
21	chr20:29595600-29596800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:29595600-29597000	ZNF genes & repeats	Pancreas	Pancrea
23	chr20:29595800-29601200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr20:29596400-29596600	ZNF genes & repeats	Aorta	Aorta
25	chr20:29597000-29600600	Weak transcription	Pancreas	Pancrea
26	chr20:29597600-29601200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr20:29598000-29598400	ZNF genes & repeats	Left Ventricle	heart
28	chr20:29598000-29598600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr20:29598200-29598400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr20:29598200-29598400	ZNF genes & repeats	Fetal Brain Male	brain
31	chr20:29598400-29599400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr20:29598400-29599600	Weak transcription	Fetal Brain Male	brain
33	chr20:29599400-29599800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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