Variant report

Variant	esv1807721
Chromosome Location	chr2:180024167-180076733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:180058459-180058657	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:180038980-180039282	HepG2	liver:	n/a	n/a
3	ATF2	chr2:180044989-180045412	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:180044931-180045459	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr2:180045026-180045361	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr2:180045033-180045282	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr2:180037655-180037704	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr2:180066654-180066871	HCT-116	colon:	n/a	n/a
9	CBX3	chr2:180054781-180055100	HCT-116	colon:	n/a	n/a
10	CEBPB	chr2:180055905-180056225	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:180055962-180056129	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:180058459-180058796	HepG2	liver:	n/a	n/a
13	CEBPZ	chr2:180066713-180066874	HepG2	liver:	n/a	n/a
14	CHD1	chr2:180059593-180059605	GM12878	blood:	n/a	n/a
15	CHD2	chr2:180045035-180045332	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr2:180044519-180044821	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:180072260-180072410	A549	lung:	n/a	n/a
18	CTCF	chr2:180058522-180058659	K562	blood:	n/a	n/a
19	CTCF	chr2:180058500-180058650	HepG2	liver:	n/a	n/a
20	CTCF	chr2:180058560-180058710	HEK293	kidney:	n/a	n/a
21	CTCF	chr2:180029360-180029510	RPTEC	kidney:	n/a	n/a
22	CTCF	chr2:180058588-180058629	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:180058570-180058665	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr2:180043280-180043430	GM12864	blood:	n/a	n/a
25	CTCF	chr2:180058580-180058730	A549	lung:	n/a	n/a
26	CTCF	chr2:180043340-180043490	GM12875	blood:	n/a	n/a
27	CTCF	chr2:180058400-180058550	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:180058520-180058670	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr2:180036128-180036195	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr2:180043382-180043505	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:180058560-180058710	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:180058585-180058620	HepG2	liver:	n/a	n/a
33	CTCF	chr2:180034020-180034170	HepG2	liver:	n/a	n/a
34	CTCF	chr2:180058559-180058654	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:180058530-180058725	HepG2	liver:	n/a	n/a
36	CTCF	chr2:180058560-180058710	HepG2	liver:	n/a	n/a
37	CTCF	chr2:180058580-180058730	GM12873	blood:	n/a	n/a
38	CTCF	chr2:180043406-180043515	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:180058480-180058630	GM12872	blood:	n/a	n/a
40	CTCF	chr2:180058540-180058690	RPTEC	kidney:	n/a	n/a
41	CTCF	chr2:180058560-180058710	HCPEpiC	choroid plexus:	n/a	n/a
42	E2F4	chr2:180033786-180034087	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr2:180029838-180029842	K562	blood:	n/a	n/a
44	EP300	chr2:180044947-180045407	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr2:180038088-180038121	K562	blood:	n/a	n/a
46	EP300	chr2:180056031-180056170	HepG2	liver:	n/a	n/a
47	FOS	chr2:180046303-180046415	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:180050929-180051228	HUVEC	blood vessel:	n/a	n/a
49	FOXA1	chr2:180076121-180076453	HepG2	liver:	n/a	n/a
50	FOXA1	chr2:180043991-180044285	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:180046003-180046053	NHBE	bronchial:	n/a
2	chr2:180046003-180046053	MCF10A-Er-Src	breast:	n/a
3	chr2:180046003-180046053	RPTEC	kidney:	n/a
4	chr2:180046003-180046053	NB4	blood:	n/a
5	chr2:180046003-180046053	H1-hESC	embryonic stem cell:	embryo
6	chr2:180046003-180046053	AG09319	gingival:	n/a
7	chr2:180046003-180046053	HNPCEpiC	eye:	n/a
8	chr2:180046003-180046053	A549	lung:	n/a
9	chr2:180046003-180046053	HRCEpiC	kidney:	n/a
10	chr2:180046003-180046053	Hela-S3	cervix:	n/a
11	chr2:180046003-180046053	ECC-1	luminal epithelium:	n/a
12	chr2:180046003-180046053	GM06990	blood:	n/a
13	chr2:180046003-180046053	SAEC	small airway:	n/a
14	chr2:180046003-180046053	HepG2	liver:	n/a
15	chr2:180046003-180046053	BJ	skin:	n/a
16	chr2:180046003-180046053	NHDF-neo	bronchial:	n/a
17	chr2:180046003-180046053	GM19239	blood:	n/a
18	chr2:180046003-180046053	SK-N-SH	brain:	n/a
19	chr2:180046003-180046053	IMR90	lung:	fetal
20	chr2:180046003-180046053	GM12891	blood:	n/a
21	chr2:180046003-180046053	AoSMC	blood vessel:	n/a
22	chr2:180046003-180046053	T-47D	breast:	n/a
23	chr2:180046003-180046053	K562	blood:	n/a
24	chr2:180046003-180046053	CMK	blood:	n/a
25	chr2:180046003-180046053	ovcar-3	ovarian:	n/a
26	chr2:180046003-180046053	AG09309	skin:	n/a
27	chr2:180046003-180046053	HRE	kidney:	n/a
28	chr2:180046003-180046053	NT2-D1	testis:	n/a
29	chr2:180046003-180046053	PrEC	prostate:	n/a
30	chr2:180046003-180046053	MCF-7	breast:	n/a
31	chr2:180046003-180046053	GM12892	blood:	n/a
32	chr2:180046003-180046053	GM12878	blood:	n/a
33	chr2:180046003-180046053	SKMC	muscle:	n/a
34	chr2:180046003-180046053	Jurkat	blood:	n/a
35	chr2:180046003-180046053	SK-N-SH_RA	brain:	n/a
36	chr2:180046003-180046053	HRPEpiC	eye:	n/a
37	chr2:180046003-180046053	HCPEpiC	choroid plexus:	n/a
38	chr2:180046003-180046053	NH-A	brain:	n/a
39	chr2:180046003-180046053	AG04450	lung:	fetal
40	chr2:180046003-180046053	HIPEpiC	eye:	n/a
41	chr2:180046003-180046053	PFSK-1	brain:	n/a
42	chr2:180046003-180046053	LNCaP	prostate:	n/a
43	chr2:180046003-180046053	SK-N-MC	brain:	n/a
44	chr2:180046003-180046053	HEEpiC	esophagus:	n/a
45	chr2:180046003-180046053	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:180046003-180046053	Caco-2	colon:	n/a
47	chr2:180046003-180046053	AG04449	skin:	fetal
48	chr2:180046003-180046053	HL-60	blood:	n/a
49	chr2:180046003-180046053	ProgFib	skin:	n/a
50	chr2:180046003-180046053	PANC-1	pancreas:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
2	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
3	chr2:180039372..180041323-chr2:180056705..180058266,2	MCF-7	breast:
4	chr2:180027947..180030148-chr2:180031681..180034023,3	MCF-7	breast:
5	chr2:180045016..180046890-chr2:180047637..180050152,2	K562	blood:
6	chr2:180045016..180046890-chr2:180047637..180050152,2	K562	blood:
7	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
8	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
9	chr2:180027947..180030148-chr2:180031681..180034023,3	MCF-7	breast:
10	chr2:180039372..180041323-chr2:180056705..180058266,2	MCF-7	breast:

No data

Variant related genes	Relation type
SESTD1	TF binding region
SESTD1	CpG island

Extended variants
information (count: 1972 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1972 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17454311	chr2:180024167-180024168	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538047902	chr2:180024177-180024178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554785139	chr2:180024184-180024185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148862322	chr2:180024200-180024201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142611530	chr2:180024260-180024261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551821093	chr2:180024263-180024264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150991483	chr2:180024287-180024288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189521113	chr2:180024313-180024314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6723850	chr2:180024321-180024322	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565112417	chr2:180024419-180024420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181852139	chr2:180024468-180024469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562995173	chr2:180024482-180024483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531881808	chr2:180024504-180024505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373126901	chr2:180024537-180024538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544404448	chr2:180024551-180024552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71401719	chr2:180024560-180024561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398042816	chr2:180024567-180024568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561094684	chr2:180024583-180024584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77691073	chr2:180024594-180024595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140868910	chr2:180024595-180024596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186007930	chr2:180024603-180024604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547706328	chr2:180024616-180024617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146197580	chr2:180024633-180024634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532138446	chr2:180024639-180024640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528100261	chr2:180024651-180024652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567251454	chr2:180024652-180024653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111745199	chr2:180024707-180024708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568927262	chr2:180024711-180024712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376052298	chr2:180024740-180024741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370405488	chr2:180024747-180024748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56181927	chr2:180024872-180024873	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs6712420	chr2:180024950-180024951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376243739	chr2:180024979-180024980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189869326	chr2:180024994-180024995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568328650	chr2:180025005-180025006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62177281	chr2:180025012-180025013	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554448316	chr2:180025027-180025028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181426805	chr2:180025028-180025029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186179384	chr2:180025034-180025035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191031595	chr2:180025092-180025093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556311489	chr2:180025097-180025098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138992680	chr2:180025120-180025121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141549944	chr2:180025188-180025189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182476305	chr2:180025212-180025213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142814141	chr2:180025230-180025231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535768380	chr2:180025273-180025274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574687259	chr2:180025286-180025287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147048919	chr2:180025318-180025319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16866665	chr2:180025336-180025337	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538728616	chr2:180025340-180025341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179973400-180030200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
4	chr2:179980000-180038800	Weak transcription	HMEC	breast
5	chr2:179980000-180056800	Weak transcription	HSMM	muscle
6	chr2:179985000-180025600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:179986600-180030400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:179991600-180043200	Weak transcription	Psoas Muscle	Psoas
9	chr2:179996200-180047600	Weak transcription	NH-A	brain
10	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
11	chr2:180002400-180030200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:180003200-180039800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:180004800-180046000	Weak transcription	Spleen	Spleen
14	chr2:180005000-180028800	Weak transcription	Hela-S3	cervix
15	chr2:180005600-180040200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:180005600-180044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:180005600-180044400	Weak transcription	Esophagus	oesophagus
18	chr2:180005800-180030200	Weak transcription	Thymus	Thymus
19	chr2:180005800-180043200	Weak transcription	Fetal Brain Male	brain
20	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:180006000-180030600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:180006000-180044600	Weak transcription	Pancreas	Pancrea
23	chr2:180006200-180031400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:180006200-180031400	Weak transcription	Fetal Brain Female	brain
25	chr2:180006400-180030200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:180006600-180042000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
28	chr2:180006800-180031600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:180007200-180028600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:180007400-180035200	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:180007400-180035600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:180007400-180042200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:180007400-180043000	Weak transcription	Aorta	Aorta
35	chr2:180007600-180030400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:180007600-180031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:180007600-180031200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:180008400-180030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:180008400-180042200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:180008600-180028400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:180008600-180029400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:180008600-180037600	Weak transcription	Fetal Thymus	thymus
43	chr2:180008600-180038400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:180008600-180048400	Weak transcription	Small Intestine	intestine
45	chr2:180009000-180026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:180011200-180029000	Weak transcription	Dnd41	blood
47	chr2:180011800-180039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:180013200-180044400	Weak transcription	Fetal Kidney	kidney
49	chr2:180014600-180027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:180015000-180028600	Weak transcription	Muscle Satellite Cultured Cells	--

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