Variant report

Variant	esv3405547
Chromosome Location	chr20:23432652-23436950
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	CEBPB	chr20:23435874-23436147	A549	lung:	n/a	chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436004-23436015 chr20:23436006-23436015 chr20:23436005-23436016
2	CEBPB	chr20:23435881-23436117	K562	blood:	n/a	chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436004-23436015 chr20:23436006-23436015 chr20:23436005-23436016
3	CEBPB	chr20:23435843-23436158	HepG2	liver:	n/a	chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436004-23436015 chr20:23436006-23436015 chr20:23436005-23436016
4	CEBPB	chr20:23435864-23436154	IMR90	lung:	n/a	chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436006-23436015 chr20:23436004-23436015 chr20:23436006-23436015 chr20:23436005-23436016
5	CTCF	chr20:23434919-23435019	GM19239	blood:	n/a	n/a
6	CTCF	chr20:23432900-23433050	A549	lung:	n/a	n/a
7	E2F6	chr20:23433853-23434137	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr20:23435845-23436043	MCF10A-Er-Src	breast:	n/a	chr20:23435970-23435978 chr20:23435968-23435980 chr20:23435971-23435982
9	MAFF	chr20:23435467-23435798	K562	blood:	n/a	chr20:23435619-23435637
10	MAFF	chr20:23435446-23435817	HepG2	liver:	n/a	chr20:23435619-23435637
11	MAFK	chr20:23435451-23435807	IMR90	lung:	n/a	chr20:23435621-23435636
12	MAFK	chr20:23435455-23435801	HepG2	liver:	n/a	chr20:23435621-23435636
13	MAFK	chr20:23435442-23435820	HepG2	liver:	n/a	chr20:23435621-23435636
14	MAFK	chr20:23435495-23435762	K562	blood:	n/a	chr20:23435621-23435636
15	MAFK	chr20:23435475-23435715	H1-hESC	embryonic stem cell:	n/a	chr20:23435621-23435636
16	POLR2A	chr20:23434861-23434923	HepG2	liver:	n/a	n/a
17	POLR2A	chr20:23434791-23434807	HepG2	liver:	n/a	n/a
18	RCOR1	chr20:23434654-23434790	HepG2	liver:	n/a	n/a
19	RFX5	chr20:23435599-23435672	HepG2	liver:	n/a	n/a
20	SUZ12	chr20:23434541-23435175	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23433503-23433553	K562	blood:	n/a
2	chr20:23434086-23434136	Jurkat	blood:	n/a
3	chr20:23432977-23433027	HNPCEpiC	eye:	n/a
4	chr20:23434279-23434329	HIPEpiC	eye:	n/a
5	chr20:23433349-23433399	HRCEpiC	kidney:	n/a
6	chr20:23434244-23434294	Jurkat	blood:	n/a
7	chr20:23433608-23433658	SK-N-SH_RA	brain:	n/a
8	chr20:23434244-23434294	HEEpiC	esophagus:	n/a
9	chr20:23434279-23434329	ProgFib	skin:	n/a
10	chr20:23432977-23433027	GM12878	blood:	n/a
11	chr20:23433503-23433553	HUVEC	blood vessel:	n/a
12	chr20:23433608-23433658	SK-N-MC	brain:	n/a
13	chr20:23434086-23434136	HL-60	blood:	n/a
14	chr20:23432977-23433027	NHDF-neo	bronchial:	n/a
15	chr20:23432977-23433027	AG09319	gingival:	n/a
16	chr20:23434244-23434294	K562	blood:	n/a
17	chr20:23434086-23434136	A549	lung:	n/a
18	chr20:23434244-23434294	MCF10A-Er-Src	breast:	n/a
19	chr20:23433349-23433399	HRE	kidney:	n/a
20	chr20:23434244-23434294	IMR90	lung:	fetal
21	chr20:23433349-23433399	NHBE	bronchial:	n/a
22	chr20:23434086-23434136	U87	brain:	n/a
23	chr20:23433349-23433399	NHDF-neo	bronchial:	n/a
24	chr20:23434244-23434294	AG09309	skin:	n/a
25	chr20:23433503-23433553	PrEC	prostate:	n/a
26	chr20:23434086-23434136	ECC-1	luminal epithelium:	n/a
27	chr20:23434279-23434329	HNPCEpiC	eye:	n/a
28	chr20:23434279-23434329	A549	lung:	n/a
29	chr20:23433349-23433399	T-47D	breast:	n/a
30	chr20:23433608-23433658	ECC-1	luminal epithelium:	n/a
31	chr20:23434279-23434329	HCM	heart:	n/a
32	chr20:23433608-23433658	SKMC	muscle:	n/a
33	chr20:23432977-23433027	HAEpiC	amniotic membrane:	n/a
34	chr20:23433503-23433553	SAEC	small airway:	n/a
35	chr20:23434086-23434136	HIPEpiC	eye:	n/a
36	chr20:23433608-23433658	HPAEpiC	pulmonary alveolar:	n/a
37	chr20:23434086-23434136	NHDF-neo	bronchial:	n/a
38	chr20:23434086-23434136	BJ	skin:	n/a
39	chr20:23434086-23434136	HCF	heart:	n/a
40	chr20:23434244-23434294	PrEC	prostate:	n/a
41	chr20:23434279-23434329	SK-N-SH_RA	brain:	n/a
42	chr20:23432977-23433027	SK-N-SH	brain:	n/a
43	chr20:23432977-23433027	SAEC	small airway:	n/a
44	chr20:23434244-23434294	PANC-1	pancreas:	n/a
45	chr20:23434279-23434329	NB4	blood:	n/a
46	chr20:23434244-23434294	NHBE	bronchial:	n/a
47	chr20:23434244-23434294	GM12892	blood:	n/a
48	chr20:23433608-23433658	H1-hESC	embryonic stem cell:	embryo
49	chr20:23434086-23434136	AG10803	skin:	n/a
50	chr20:23434244-23434294	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23434496..23436579-chr20:23437423..23440853,3	K562	blood:
2	chr20:23428863..23430535-chr20:23433558..23435826,2	K562	blood:
3	chr20:23435629..23437264-chr20:23438674..23441153,2	MCF-7	breast:
4	chr20:23427640..23430149-chr20:23434541..23436355,2	MCF-7	breast:

Variant related genes	Relation type
CST11	TF binding region
CST11	CpG island
ENSG00000200208	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6137953	chr20:23432669-23432670	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs556443941	chr20:23432672-23432673	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs562441641	chr20:23432697-23432698	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs182359096	chr20:23432767-23432768	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116689185	chr20:23432780-23432781	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs568262427	chr20:23432794-23432795	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs527368307	chr20:23432802-23432803	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs185742906	chr20:23432803-23432804	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs6114092	chr20:23432810-23432811	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539430720	chr20:23432817-23432818	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs556239004	chr20:23432821-23432822	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs570314655	chr20:23432856-23432857	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs190652583	chr20:23432862-23432863	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs181473891	chr20:23432867-23432868	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs2249239	chr20:23432891-23432892	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs111719213	chr20:23432936-23432937	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs80353715	chr20:23432985-23432986	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs186149445	chr20:23432994-23432995	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs190128635	chr20:23433090-23433091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563352320	chr20:23433152-23433153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181365648	chr20:23433173-23433174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377732391	chr20:23433181-23433182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112473930	chr20:23433182-23433183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377049650	chr20:23433183-23433184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370455227	chr20:23433192-23433193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527464507	chr20:23433197-23433198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374816842	chr20:23433202-23433203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376160247	chr20:23433203-23433204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370761146	chr20:23433216-23433217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374453804	chr20:23433221-23433222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147166434	chr20:23433231-23433232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368607322	chr20:23433232-23433233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6137954	chr20:23433238-23433239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140128807	chr20:23433243-23433244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146114915	chr20:23433244-23433245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201830326	chr20:23433250-23433251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569645613	chr20:23433277-23433278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373640629	chr20:23433294-23433295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535136046	chr20:23433302-23433303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34604301	chr20:23433317-23433318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566287886	chr20:23433337-23433338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144406731	chr20:23433349-23433350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148800946	chr20:23433359-23433360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367809425	chr20:23433381-23433382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199797248	chr20:23433388-23433389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371609554	chr20:23433430-23433431	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs200290505	chr20:23433441-23433442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs142434409	chr20:23433444-23433445	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs60224170	chr20:23433454-23433455	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs542696568	chr20:23433459-23433460	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23430400-23436200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr20:23430600-23435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:23431200-23434000	Weak transcription	Fetal Thymus	thymus
6	chr20:23432000-23434600	Weak transcription	Pancreas	Pancrea
7	chr20:23432400-23433400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:23432600-23432800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:23432600-23433400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr20:23432600-23433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23432600-23446000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr20:23432800-23433000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:23433200-23433800	Enhancers	Fetal Stomach	stomach
14	chr20:23433400-23433600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
15	chr20:23433400-23433800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr20:23433400-23434000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:23433400-23434200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:23433400-23434200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:23433600-23434000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:23433800-23437000	Weak transcription	Fetal Stomach	stomach
21	chr20:23434000-23434200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr20:23434000-23434200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:23434000-23434200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr20:23434000-23440400	Enhancers	Fetal Thymus	thymus
25	chr20:23434200-23434600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr20:23434200-23434600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:23434200-23434600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:23434200-23434800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:23434200-23435200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:23434400-23434800	Enhancers	Esophagus	oesophagus
31	chr20:23434600-23434800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr20:23434600-23434800	ZNF genes & repeats	Pancreas	Pancrea
33	chr20:23434800-23435000	Enhancers	Gastric	stomach
34	chr20:23434800-23445200	Weak transcription	Esophagus	oesophagus
35	chr20:23435200-23439800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:23435400-23436400	Weak transcription	Primary T cells from cord blood	blood
37	chr20:23435600-23437400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr20:23436000-23436800	Enhancers	Dnd41	blood
39	chr20:23436200-23436800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:23436200-23438000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr20:23436200-23438000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr20:23436400-23436600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr20:23436400-23437400	Enhancers	Thymus	Thymus
44	chr20:23436400-23438200	Enhancers	Primary T cells from cord blood	blood
45	chr20:23436400-23438600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr20:23436400-23441000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:23436600-23437000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr20:23436600-23437200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr20:23436600-23437400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr20:23436600-23437400	Enhancers	Fetal Muscle Leg	muscle

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