Variant report

Variant	esv2763034
Chromosome Location	chr2:186473461-186587890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:550)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:186510210-186510829	HepG2	liver:	n/a	n/a
2	ATF1	chr2:186586784-186586978	K562	blood:	n/a	n/a
3	ATF2	chr2:186509544-186509954	GM12878	blood:	n/a	n/a
4	BATF	chr2:186509574-186509959	GM12878	blood:	n/a	n/a
5	BCLAF1	chr2:186509649-186509904	GM12878	blood:	n/a	n/a
6	CBX3	chr2:186554778-186555281	HCT-116	colon:	n/a	n/a
7	CBX3	chr2:186554740-186555339	HCT-116	colon:	n/a	n/a
8	CCNT2	chr2:186508599-186508741	K562	blood:	n/a	n/a
9	CEBPB	chr2:186544754-186544870	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:186510298-186510570	HepG2	liver:	n/a	chr2:186510394-186510405
11	CEBPB	chr2:186533508-186533786	H1-hESC	embryonic stem cell:	n/a	chr2:186533645-186533656
12	CEBPB	chr2:186533543-186533809	IMR90	lung:	n/a	chr2:186533645-186533656
13	CEBPB	chr2:186510245-186510608	HepG2	liver:	n/a	chr2:186510394-186510405
14	CEBPB	chr2:186510221-186510640	HepG2	liver:	n/a	chr2:186510394-186510405
15	CEBPB	chr2:186523553-186523803	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr2:186535082-186535227	HepG2	liver:	n/a	chr2:186535119-186535130
17	CEBPB	chr2:186533467-186533798	Hela-S3	cervix:	n/a	chr2:186533645-186533656
18	CEBPB	chr2:186530680-186530902	HepG2	liver:	n/a	chr2:186530798-186530809
19	CEBPB	chr2:186478620-186478884	HepG2	liver:	n/a	chr2:186478732-186478743
20	CEBPB	chr2:186533506-186533791	A549	lung:	n/a	chr2:186533645-186533656
21	CEBPB	chr2:186533482-186533800	HepG2	liver:	n/a	chr2:186533645-186533656
22	CEBPB	chr2:186510299-186510509	HepG2	liver:	n/a	chr2:186510394-186510405
23	CEBPB	chr2:186478710-186478888	A549	lung:	n/a	chr2:186478732-186478743
24	CEBPB	chr2:186587425-186587627	HepG2	liver:	n/a	n/a
25	CEBPD	chr2:186510309-186510546	HepG2	liver:	n/a	chr2:186510394-186510405
26	CHD2	chr2:186510399-186510485	HepG2	liver:	n/a	n/a
27	CHD2	chr2:186562832-186562938	HepG2	liver:	n/a	n/a
28	CTCF	chr2:186493940-186494090	HEK293	kidney:	n/a	n/a
29	CTCF	chr2:186570540-186570690	GM12870	blood:	n/a	n/a
30	CTCF	chr2:186493968-186494104	Medullo	brain:	n/a	n/a
31	CTCF	chr2:186473660-186473810	HBMEC	blood vessel:	n/a	chr2:186473696-186473704
32	CTCF	chr2:186493940-186494090	SAEC	small airway:	n/a	n/a
33	CTCF	chr2:186493940-186494090	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr2:186473700-186473850	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr2:186493922-186494115	GM10266	blood:	n/a	n/a
36	CTCF	chr2:186494020-186494170	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr2:186473600-186473750	BE2_C	brain:	n/a	chr2:186473696-186473704
38	CTCF	chr2:186493939-186494085	GM20000	blood:	n/a	n/a
39	CTCF	chr2:186493904-186494101	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:186493920-186494070	GM12878	blood:	n/a	n/a
41	CTCF	chr2:186473620-186473770	SK-N-SH_RA	brain:	n/a	chr2:186473696-186473704
42	CTCF	chr2:186503496-186503528	K562	blood:	n/a	n/a
43	CTCF	chr2:186473463-186473902	MCF-7	breast:	n/a	chr2:186473696-186473704
44	CTCF	chr2:186493883-186494125	Gliobla	brain:	n/a	n/a
45	CTCF	chr2:186473620-186473770	HMF	breast:	n/a	chr2:186473696-186473704
46	CTCF	chr2:186473619-186473816	LNCaP	prostate:	n/a	chr2:186473696-186473704
47	CTCF	chr2:186545920-186546070	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr2:186493900-186494050	GM12870	blood:	n/a	n/a
49	CTCF	chr2:186493916-186494133	HepG2	liver:	n/a	n/a
50	CTCF	chr2:186493960-186494110	GM12873	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:
2	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:
3	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:
4	chr2:186493563..186494107-chr2:187121512..187122407,2	MCF-7	breast:
5	chr2:186493592..186494450-chr2:186603275..186603898,3	MCF-7	breast:
6	chr16:88876629..88878732-chr2:186490716..186492785,2	MCF-7	breast:
7	chr2:186492938..186493701-chr2:186603922..186604721,2	MCF-7	breast:
8	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:
9	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:
10	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:
11	chr2:186473268..186473794-chr2:186603435..186603983,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110215
2	lnc-ZSWIM2-6	chr2:186584601-186585447	ENSG00000226747
3	lnc-ZSWIM2-6	chr2:186584939-186585447	ENSG00000226747
4	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110214
5	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110216
6	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110217

No data

Variant related genes	Relation type
ENSG00000212581	TF binding region
ENSG00000198931	chromatin interactions
ENSG00000188738	chromatin interactions
ENSG00000226747	chromatin interactions

Extended variants
information (count: 2361 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2361 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371006003	chr2:186473462-186473463	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141173929	chr2:186473470-186473471	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs60332173	chr2:186473479-186473480	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376781859	chr2:186473483-186473484	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563098288	chr2:186473504-186473505	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143455659	chr2:186473509-186473510	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182046734	chr2:186473547-186473548	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564356227	chr2:186473566-186473567	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs578034204	chr2:186473601-186473602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528321491	chr2:186473619-186473620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546473141	chr2:186473688-186473689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs28737389	chr2:186473772-186473773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs146757555	chr2:186473776-186473777	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12620350	chr2:186473840-186473841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187210116	chr2:186473957-186473958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190530175	chr2:186473995-186473996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539763116	chr2:186474048-186474049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563552398	chr2:186474065-186474066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180937857	chr2:186474076-186474077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566805047	chr2:186474078-186474079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534452547	chr2:186474124-186474125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572486610	chr2:186474237-186474238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544204883	chr2:186474241-186474242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367912933	chr2:186474296-186474297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186033062	chr2:186474329-186474330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555674571	chr2:186474344-186474345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533567841	chr2:186474405-186474406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114249105	chr2:186474504-186474505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140320812	chr2:186474509-186474510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557018186	chr2:186474517-186474518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575346139	chr2:186474735-186474736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190227201	chr2:186474811-186474812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564419661	chr2:186474826-186474827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573164899	chr2:186474833-186474834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540429827	chr2:186474834-186474835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564114748	chr2:186474842-186474843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529407289	chr2:186474922-186474923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550765171	chr2:186474936-186474937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554962813	chr2:186475068-186475069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116449127	chr2:186475099-186475100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533185870	chr2:186475113-186475114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13013951	chr2:186475133-186475134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551360648	chr2:186475140-186475141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542950458	chr2:186475235-186475236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566866389	chr2:186475245-186475246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186026366	chr2:186475312-186475313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549558372	chr2:186475330-186475331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371800163	chr2:186475352-186475353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71430201	chr2:186475384-186475385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557120332	chr2:186475393-186475394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186473000-186473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186473000-186473800	Enhancers	HMEC	breast
3	chr2:186473400-186473800	Enhancers	Fetal Kidney	kidney
4	chr2:186473600-186483400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:186473800-186475000	Weak transcription	HMEC	breast
6	chr2:186475000-186475400	Enhancers	HMEC	breast
7	chr2:186475000-186476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:186475800-186476000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:186483400-186483800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:186483400-186483800	Enhancers	Fetal Heart	heart
11	chr2:186483400-186484000	Enhancers	HMEC	breast
12	chr2:186483600-186483800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:186483600-186484000	Enhancers	NHEK	skin
14	chr2:186483800-186490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:186485000-186485400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:186485400-186485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:186485400-186490600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:186485800-186489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:186487200-186487800	Enhancers	Brain Germinal Matrix	brain
20	chr2:186489800-186490400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:186490400-186490600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:186490600-186490800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:186498200-186498600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:186498200-186498800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:186498200-186498800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:186498400-186498800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:186498600-186503000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:186498800-186502400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:186498800-186503000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:186502400-186503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:186502400-186504200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:186502600-186503200	Enhancers	Brain Germinal Matrix	brain
33	chr2:186502600-186503800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:186502800-186503400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:186502800-186503400	Enhancers	Fetal Brain Female	brain
36	chr2:186503000-186503400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:186503000-186503400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:186503000-186503800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:186503800-186508200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:186504200-186509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:186504800-186505400	Enhancers	Fetal Stomach	stomach
42	chr2:186505400-186508400	Weak transcription	Fetal Stomach	stomach
43	chr2:186507000-186507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:186507000-186510400	Enhancers	Fetal Intestine Small	intestine
45	chr2:186507000-186511000	Enhancers	Fetal Intestine Large	intestine
46	chr2:186507200-186508400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:186507600-186511200	Enhancers	HepG2	liver
48	chr2:186508200-186509000	Enhancers	Ovary	ovary
49	chr2:186508200-186510000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:186508400-186509200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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