Variant report

Variant	esv987552
Chromosome Location	chr20:29526122-29535234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:29531202-29531231	GM20000	blood:	n/a	n/a
2	EP300	chr20:29534163-29534503	GM12878	blood:	n/a	n/a
3	FOSL2	chr20:29532571-29532891	HepG2	liver:	n/a	n/a
4	FOXA1	chr20:29532506-29532995	HepG2	liver:	n/a	n/a
5	GATA2	chr20:29528491-29528805	K562	blood:	n/a	chr20:29528721-29528728 chr20:29528569-29528582 chr20:29528721-29528728 chr20:29528721-29528728
6	GATA2	chr20:29531874-29532131	K562	blood:	n/a	chr20:29531990-29531999 chr20:29531990-29532000 chr20:29531987-29532003 chr20:29531992-29531999
7	HEY1	chr20:29528599-29528823	K562	blood:	n/a	n/a
8	JUND	chr20:29528580-29528758	HepG2	liver:	n/a	n/a
9	JUND	chr20:29532678-29532802	HepG2	liver:	n/a	n/a
10	NR2F2	chr20:29525270-29526174	K562	blood:	n/a	n/a
11	PAX5	chr20:29527042-29527276	GM12878	blood:	n/a	n/a
12	PAX5	chr20:29527064-29527324	GM12878	blood:	n/a	n/a
13	PAX5	chr20:29527841-29528018	GM12878	blood:	n/a	n/a
14	POLR2A	chr20:29534686-29535145	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr20:29533661-29534098	GM12878	blood:	n/a	n/a
16	POU2F2	chr20:29533673-29534019	GM12878	blood:	n/a	n/a
17	POU2F2	chr20:29533788-29533923	GM12878	blood:	n/a	n/a
18	RXRA	chr20:29532515-29532947	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr20:29532675-29532811	HepG2	liver:	n/a	n/a
20	SP1	chr20:29533594-29533865	HepG2	liver:	n/a	n/a
21	SP1	chr20:29532546-29533039	HepG2	liver:	n/a	n/a
22	TAF1	chr20:29534746-29535163	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr20:29532581-29532806	HepG2	liver:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:29535013-29535063	HRE	kidney:	n/a
2	chr20:29535013-29535063	GM12892	blood:	n/a
3	chr20:29535013-29535063	SK-N-MC	brain:	n/a
4	chr20:29535007-29535057	NT2-D1	testis:	n/a
5	chr20:29535056-29535106	HCM	heart:	n/a
6	chr20:29535013-29535063	BJ	skin:	n/a
7	chr20:29534074-29534124	LNCaP	prostate:	n/a
8	chr20:29535007-29535057	GM12892	blood:	n/a
9	chr20:29535056-29535106	BJ	skin:	n/a
10	chr20:29535007-29535057	Hepatocyte	liver:	n/a
11	chr20:29535007-29535057	ProgFib	skin:	n/a
12	chr20:29535150-29535200	SAEC	small airway:	n/a
13	chr20:29535150-29535200	HepG2	liver:	n/a
14	chr20:29535056-29535106	H1-hESC	embryonic stem cell:	embryo
15	chr20:29535150-29535200	SKMC	muscle:	n/a
16	chr20:29535007-29535057	AG09319	gingival:	n/a
17	chr20:29535150-29535200	ProgFib	skin:	n/a
18	chr20:29535013-29535063	Hepatocyte	liver:	n/a
19	chr20:29535007-29535057	AG10803	skin:	n/a
20	chr20:29535007-29535057	CMK	blood:	n/a
21	chr20:29534074-29534124	HCT-116	colon:	n/a
22	chr20:29535056-29535106	T-47D	breast:	n/a
23	chr20:29535007-29535057	HPAEpiC	pulmonary alveolar:	n/a
24	chr20:29535013-29535063	AG10803	skin:	n/a
25	chr20:29535007-29535057	HIPEpiC	eye:	n/a
26	chr20:29535150-29535200	NB4	blood:	n/a
27	chr20:29535056-29535106	AoSMC	blood vessel:	n/a
28	chr20:29534074-29534124	SAEC	small airway:	n/a
29	chr20:29535007-29535057	AoSMC	blood vessel:	n/a
30	chr20:29534074-29534124	PrEC	prostate:	n/a
31	chr20:29535150-29535200	LNCaP	prostate:	n/a
32	chr20:29535013-29535063	GM06990	blood:	n/a
33	chr20:29535013-29535063	A549	lung:	n/a
34	chr20:29534074-29534124	Hepatocyte	liver:	n/a
35	chr20:29535056-29535106	GM12891	blood:	n/a
36	chr20:29535013-29535063	NH-A	brain:	n/a
37	chr20:29534074-29534124	NT2-D1	testis:	n/a
38	chr20:29535013-29535063	RPTEC	kidney:	n/a
39	chr20:29535150-29535200	AG04450	lung:	fetal
40	chr20:29535007-29535057	ovcar-3	ovarian:	n/a
41	chr20:29534074-29534124	GM06990	blood:	n/a
42	chr20:29535150-29535200	SK-N-SH_RA	brain:	n/a
43	chr20:29535150-29535200	AG10803	skin:	n/a
44	chr20:29535056-29535106	ProgFib	skin:	n/a
45	chr20:29535150-29535200	HEEpiC	esophagus:	n/a
46	chr20:29535007-29535057	NHBE	bronchial:	n/a
47	chr20:29534074-29534124	BJ	skin:	n/a
48	chr20:29535150-29535200	SK-N-SH	brain:	n/a
49	chr20:29535007-29535057	ECC-1	luminal epithelium:	n/a
50	chr20:29534074-29534124	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000205611	TF binding region
ENSG00000225490	TF binding region
ENSG00000205611	CpG island
ENSG00000225490	CpG island

Extended variants
information (count: 605 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571377381	chr20:29526187-29526188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530487978	chr20:29526200-29526201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550572138	chr20:29526207-29526208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567312654	chr20:29526232-29526233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536154186	chr20:29526237-29526238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555790766	chr20:29526239-29526240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566227587	chr20:29526247-29526248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534922725	chr20:29526267-29526268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558204596	chr20:29526270-29526271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551421086	chr20:29526272-29526273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543546438	chr20:29526278-29526279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181724254	chr20:29526284-29526285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533809572	chr20:29526288-29526289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374543181	chr20:29526291-29526292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61206696	chr20:29526298-29526299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75882752	chr20:29526314-29526315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556925690	chr20:29526315-29526316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573743320	chr20:29526337-29526338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542860672	chr20:29526344-29526345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559394654	chr20:29526359-29526360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572955803	chr20:29526361-29526362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544895546	chr20:29526387-29526388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185604954	chr20:29526388-29526389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530614312	chr20:29526390-29526391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373889428	chr20:29526410-29526411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190477246	chr20:29526416-29526417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529668978	chr20:29526419-29526420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549617949	chr20:29526433-29526434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566265370	chr20:29526446-29526447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62199768	chr20:29526449-29526450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535356930	chr20:29526463-29526464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551545748	chr20:29526469-29526470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571547238	chr20:29526473-29526474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367929234	chr20:29526492-29526493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370597034	chr20:29526496-29526497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557038019	chr20:29526503-29526504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573657466	chr20:29526504-29526505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536263745	chr20:29526543-29526544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553202383	chr20:29526544-29526545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573030648	chr20:29526553-29526554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545320017	chr20:29526556-29526557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565072522	chr20:29526563-29526564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575516605	chr20:29526566-29526567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544286506	chr20:29526570-29526571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560983604	chr20:29526599-29526600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529663935	chr20:29526608-29526609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546258212	chr20:29526609-29526610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180738525	chr20:29526616-29526617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185992886	chr20:29526639-29526640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367845606	chr20:29526655-29526656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29521000-29534000	Weak transcription	Gastric	stomach
2	chr20:29524800-29535000	Weak transcription	Pancreas	Pancrea
3	chr20:29525000-29528400	Weak transcription	Brain Substantia Nigra	brain
4	chr20:29525000-29535200	Weak transcription	Small Intestine	intestine
5	chr20:29525600-29529600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:29525600-29531000	Weak transcription	Stomach Mucosa	stomach
7	chr20:29525600-29535200	Weak transcription	Right Atrium	heart
8	chr20:29525800-29527600	Weak transcription	K562	blood
9	chr20:29527600-29529600	Enhancers	K562	blood
10	chr20:29529600-29530000	Enhancers	Duodenum Mucosa	Duodenum
11	chr20:29530000-29533400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr20:29531000-29532200	Enhancers	Stomach Mucosa	stomach
13	chr20:29533400-29534800	Enhancers	Duodenum Mucosa	Duodenum
14	chr20:29534000-29534200	Enhancers	Gastric	stomach
15	chr20:29534600-29535000	Active TSS	Stomach Smooth Muscle	stomach
16	chr20:29534600-29535200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr20:29534600-29535200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:29534800-29535000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:29534800-29535000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:29534800-29535000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:29534800-29535000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr20:29534800-29535000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr20:29534800-29535200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr20:29534800-29535200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:29534800-29535200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr20:29534800-29535200	Active TSS	Colonic Mucosa	Colon
27	chr20:29534800-29535200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr20:29534800-29535200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr20:29534800-29535400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:29534800-29535400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr20:29534800-29535400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr20:29534800-29535400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr20:29534800-29535400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr20:29534800-29535400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr20:29534800-29535400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:29535000-29535200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:29535000-29535200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr20:29535000-29535200	Enhancers	Pancreas	Pancrea
39	chr20:29535000-29535400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr20:29535000-29535400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr20:29535000-29535400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr20:29535200-29535400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr20:29535200-29535400	Enhancers	Small Intestine	intestine

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