Variant report

Variant	nsv518085
Chromosome Location	chr2:128334413-128404860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1004)
CpG islands
(count:2077)
Chromatin interactive
region (count:98)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128402852-128402944	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:128349048-128349416	HepG2	liver:	n/a	n/a
3	ATF1	chr2:128395319-128395639	K562	blood:	n/a	n/a
4	ATF1	chr2:128358801-128358803	K562	blood:	n/a	n/a
5	ATF2	chr2:128390643-128391096	GM12878	blood:	n/a	n/a
6	ATF2	chr2:128348914-128349416	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:128395260-128395633	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:128395213-128395669	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr2:128401745-128401880	K562	blood:	n/a	n/a
10	BACH1	chr2:128349033-128349329	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:128343035-128343230	K562	blood:	n/a	n/a
12	BATF	chr2:128377445-128377648	GM12878	blood:	n/a	chr2:128377561-128377570
13	BATF	chr2:128395358-128395563	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:128390676-128391052	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:128349073-128349341	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:128395747-128395861	K562	blood:	n/a	n/a
17	BHLHE40	chr2:128396128-128396261	K562	blood:	n/a	n/a
18	BHLHE40	chr2:128349045-128349370	K562	blood:	n/a	n/a
19	BHLHE40	chr2:128385528-128385592	K562	blood:	n/a	n/a
20	CBX3	chr2:128348982-128349342	K562	blood:	n/a	n/a
21	CCNT2	chr2:128395299-128395499	K562	blood:	n/a	n/a
22	CCNT2	chr2:128404581-128404775	K562	blood:	n/a	chr2:128404664-128404684
23	CEBPB	chr2:128349000-128349373	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr2:128395924-128396209	H1-hESC	embryonic stem cell:	n/a	chr2:128396018-128396029
25	CEBPB	chr2:128387780-128387794	A549	lung:	n/a	n/a
26	CEBPB	chr2:128387706-128387873	HepG2	liver:	n/a	chr2:128387774-128387785
27	CEBPB	chr2:128349084-128349423	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:128395872-128396195	IMR90	lung:	n/a	chr2:128396018-128396029
29	CEBPB	chr2:128349086-128349381	K562	blood:	n/a	n/a
30	CEBPB	chr2:128402725-128402856	HepG2	liver:	n/a	chr2:128402781-128402792
31	CEBPB	chr2:128395864-128396191	HepG2	liver:	n/a	chr2:128396018-128396029
32	CEBPB	chr2:128395866-128396205	HepG2	liver:	n/a	chr2:128396018-128396029
33	CEBPB	chr2:128395924-128396104	HepG2	liver:	n/a	chr2:128396018-128396029
34	CEBPB	chr2:128349142-128349337	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:128395844-128396166	K562	blood:	n/a	chr2:128396018-128396029
36	CEBPB	chr2:128395791-128396221	MCF-7	breast:	n/a	chr2:128396018-128396029
37	CEBPB	chr2:128387560-128388007	MCF-7	breast:	n/a	chr2:128387774-128387785
38	CEBPB	chr2:128395817-128396208	K562	blood:	n/a	chr2:128396018-128396029
39	CEBPB	chr2:128395370-128395570	Hela-S3	cervix:	n/a	n/a
40	CEBPD	chr2:128349131-128349314	HepG2	liver:	n/a	n/a
41	CHD2	chr2:128348982-128349275	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr2:128349251-128349257	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr2:128349131-128349289	HepG2	liver:	n/a	n/a
44	CHD2	chr2:128349065-128349344	K562	blood:	n/a	n/a
45	CHD2	chr2:128398116-128398212	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr2:128348975-128349378	A549	lung:	n/a	n/a
47	CTCF	chr2:128401754-128401861	Hela-S3	cervix:	n/a	chr2:128401808-128401826 chr2:128401810-128401831 chr2:128401811-128401820
48	CTCF	chr2:128349051-128349394	GM19240	blood:	n/a	chr2:128349252-128349265 chr2:128349212-128349228 chr2:128349211-128349229 chr2:128349234-128349242
49	CTCF	chr2:128398183-128398191	Medullo	brain:	n/a	n/a
50	CTCF	chr2:128398080-128398230	HPF	lung:	n/a	n/a

(count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128403133-128403183	NH-A	brain:	n/a
2	chr2:128381835-128381885	HMEC	breast:	n/a
3	chr2:128366594-128366644	NH-A	brain:	n/a
4	chr2:128403133-128403183	NH-A	brain:	n/a
5	chr2:128381835-128381885	HMEC	breast:	n/a
6	chr2:128366594-128366644	NH-A	brain:	n/a
7	chr2:128402294-128402344	HCT-116	colon:	n/a
8	chr2:128378434-128378484	ECC-1	luminal epithelium:	n/a
9	chr2:128350306-128350356	SAEC	small airway:	n/a
10	chr2:128381877-128381927	ECC-1	luminal epithelium:	n/a
11	chr2:128389207-128389257	HUVEC	blood vessel:	n/a
12	chr2:128389103-128389153	PFSK-1	brain:	n/a
13	chr2:128348899-128348949	AoSMC	blood vessel:	n/a
14	chr2:128354089-128354139	MCF-7	breast:	n/a
15	chr2:128350442-128350492	HRCEpiC	kidney:	n/a
16	chr2:128389112-128389162	SKMC	muscle:	n/a
17	chr2:128388876-128388926	HCPEpiC	choroid plexus:	n/a
18	chr2:128403710-128403760	AG09309	skin:	n/a
19	chr2:128354089-128354139	A549	lung:	n/a
20	chr2:128366324-128366374	NHBE	bronchial:	n/a
21	chr2:128389207-128389257	PrEC	prostate:	n/a
22	chr2:128381745-128381795	HepG2	liver:	n/a
23	chr2:128354089-128354139	HCPEpiC	choroid plexus:	n/a
24	chr2:128403084-128403134	NHBE	bronchial:	n/a
25	chr2:128354089-128354139	HAEpiC	amniotic membrane:	n/a
26	chr2:128381835-128381885	PFSK-1	brain:	n/a
27	chr2:128347901-128347951	SKMC	muscle:	n/a
28	chr2:128403710-128403760	AG09319	gingival:	n/a
29	chr2:128334565-128334615	HRPEpiC	eye:	n/a
30	chr2:128402294-128402344	PFSK-1	brain:	n/a
31	chr2:128382383-128382433	ProgFib	skin:	n/a
32	chr2:128380062-128380112	HMEC	breast:	n/a
33	chr2:128350748-128350798	Hepatocyte	liver:	n/a
34	chr2:128366324-128366374	HIPEpiC	eye:	n/a
35	chr2:128402294-128402344	CMK	blood:	n/a
36	chr2:128366594-128366644	NHDF-neo	bronchial:	n/a
37	chr2:128389103-128389153	GM12878	blood:	n/a
38	chr2:128389103-128389153	HRCEpiC	kidney:	n/a
39	chr2:128351542-128351592	AG10803	skin:	n/a
40	chr2:128354089-128354139	NT2-D1	testis:	n/a
41	chr2:128385752-128385802	ovcar-3	ovarian:	n/a
42	chr2:128396059-128396109	T-47D	breast:	n/a
43	chr2:128402415-128402465	LNCaP	prostate:	n/a
44	chr2:128381653-128381703	GM12891	blood:	n/a
45	chr2:128385752-128385802	AG04450	lung:	fetal
46	chr2:128404486-128404536	SK-N-SH	brain:	n/a
47	chr2:128389207-128389257	GM06990	blood:	n/a
48	chr2:128381689-128381739	LNCaP	prostate:	n/a
49	chr2:128354089-128354139	NHBE	bronchial:	n/a
50	chr2:128378434-128378484	AoSMC	blood vessel:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:128348763..128349664-chr2:128408092..128409288,3	MCF-7	breast:
2	chr2:128367073..128368593-chr2:128390549..128393243,2	K562	blood:
3	chr2:128396263..128398888-chr2:128399161..128401002,2	MCF-7	breast:
4	chr2:128356185..128358427-chr2:128361989..128364155,2	MCF-7	breast:
5	chr2:128396660..128399808-chr2:128456748..128459804,3	K562	blood:
6	chr17:41464681..41467245-chr2:128400919..128402419,3	K562	blood:
7	chr2:128386978..128389867-chr2:128392766..128396164,5	MCF-7	breast:
8	chr2:128336062..128337823-chr2:128338905..128341010,2	K562	blood:
9	chr2:128367073..128368593-chr2:128390549..128393243,2	K562	blood:
10	chr2:128371727..128374321-chr2:128457294..128459838,2	K562	blood:
11	chr2:128349348..128351904-chr2:128462965..128465382,2	MCF-7	breast:
12	chr2:128389859..128392516-chr2:128399643..128401704,2	K562	blood:
13	chr2:128349507..128351016-chr2:128354758..128356667,2	K562	blood:
14	chr2:128345319..128347126-chr2:128457834..128460214,2	K562	blood:
15	chr2:128334136..128336410-chr2:128339156..128341197,2	MCF-7	breast:
16	chr2:128386978..128389867-chr2:128392766..128396164,5	MCF-7	breast:
17	chr2:128378927..128382378-chr2:128457870..128460162,3	MCF-7	breast:
18	chr2:128399168..128401965-chr2:128403212..128405574,3	MCF-7	breast:
19	chr2:128282521..128284586-chr2:128401987..128404000,3	MCF-7	breast:
20	chr2:128348828..128349586-chr2:128398143..128398870,2	MCF-7	breast:
21	chr2:128348778..128349285-chr2:128408202..128409066,2	K562	blood:
22	chr2:128348754..128349757-chr2:128407019..128407967,16	MCF-7	breast:
23	chr2:128380865..128383571-chr2:128398267..128401002,2	MCF-7	breast:
24	chr2:128382408..128382928-chr21:9825403..9826159,2	K562	blood:
25	chr2:128389859..128392516-chr2:128399643..128401704,2	K562	blood:
26	chr2:128348935..128349717-chr2:128397753..128398634,2	MCF-7	breast:
27	chr2:128385318..128388983-chr2:128393086..128394739,3	MCF-7	breast:
28	chr2:128348828..128349586-chr2:128398143..128398870,2	MCF-7	breast:
29	chr2:128379152..128382886-chr2:128385919..128388760,4	K562	blood:
30	chr2:128396062..128398700-chr2:128403094..128404905,3	K562	blood:
31	chr2:128395122..128397868-chr2:128458445..128462393,4	MCF-7	breast:
32	chr2:128349017..128351644-chr2:128387621..128389792,2	MCF-7	breast:
33	chr2:128266465..128268562-chr2:128395784..128397620,2	MCF-7	breast:
34	chr2:128330113..128332946-chr2:128335527..128337654,2	K562	blood:
35	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:
36	chr2:128375941..128378223-chr2:128378920..128381001,2	K562	blood:
37	chr2:128349017..128351644-chr2:128387621..128389792,2	MCF-7	breast:
38	chr2:128356185..128358427-chr2:128361989..128364155,2	MCF-7	breast:
39	chr2:128344046..128345819-chr2:128458490..128460520,2	MCF-7	breast:
40	chr2:128370249..128372116-chr2:128372361..128374948,2	MCF-7	breast:
41	chr2:128377789..128381819-chr2:128383381..128385933,3	MCF-7	breast:
42	chr2:128350066..128351938-chr2:128352163..128353978,2	MCF-7	breast:
43	chr2:128354299..128355897-chr2:128567209..128569843,2	MCF-7	breast:
44	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:
45	chr2:128372104..128373861-chr2:128379908..128381447,2	K562	blood:
46	chr2:128388233..128390478-chr2:128396235..128397787,2	K562	blood:
47	chr2:128394527..128396772-chr2:128458451..128460497,2	MCF-7	breast:
48	chr2:128404401..128407109-chr2:128457505..128460604,3	K562	blood:
49	chr2:128396062..128398700-chr2:128403094..128404905,3	K562	blood:
50	chr2:128341026..128343432-chr2:128406208..128408267,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR17-1	chr2:128361166-128363412	l_1945_chr2:128361165-128366776_ovary
2	lnc-LIMS2-1	chr2:128394380-128394796	NONHSAT074176
3	lnc-LIMS2-2	chr2:128383572-128384423	ENSG00000272789.1
4	lnc-GPR17-1	chr2:128366260-128366776	l_1945_chr2:128361165-128366776_ovary
5	lnc-GPR17-2	chr2:128360094-128360482	expReg_chr2_9268_+
6	lnc-LIMS2-3	chr2:128345637-128345930	expReg_chr2_9243_-
7	lnc-LIMS2-1	chr2:128391285-128394251	NONHSAT074176

No data

Variant related genes	Relation type
GPR17	TF binding region
LIMS2	TF binding region
ENSG00000272789	TF binding region
MYO7B	TF binding region
GPR17	CpG island
LIMS2	CpG island
ENSG00000272789	CpG island
MYO7B	CpG island
ENSG00000072163	chromatin interactions
ENSG00000169994	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000144230	chromatin interactions
ENSG00000163166	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000136709	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000272789	chromatin interactions

Extended variants
information (count: 3457 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3457 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12999486	chr2:128334413-128334414	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147976331	chr2:128334426-128334427	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574995588	chr2:128334441-128334442	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540683833	chr2:128334460-128334461	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560495985	chr2:128334462-128334463	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs968756	chr2:128334470-128334471	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546215351	chr2:128334497-128334498	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77583203	chr2:128334511-128334512	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12477670	chr2:128334526-128334527	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531859594	chr2:128334547-128334548	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187963247	chr2:128334566-128334567	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs367865144	chr2:128334652-128334653	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561908024	chr2:128334653-128334654	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193038571	chr2:128334661-128334662	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559945543	chr2:128334662-128334663	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570144760	chr2:128334707-128334708	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539396102	chr2:128334735-128334736	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73953645	chr2:128334739-128334740	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566906308	chr2:128334750-128334751	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76625674	chr2:128334833-128334834	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114218030	chr2:128334846-128334847	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs72843352	chr2:128334850-128334851	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184099184	chr2:128334877-128334878	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534304542	chr2:128334898-128334899	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554293508	chr2:128334903-128334904	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559045462	chr2:128334914-128334915	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114984031	chr2:128334963-128334964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546177764	chr2:128334981-128334982	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529105550	chr2:128334986-128334987	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142908176	chr2:128334999-128335000	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563080658	chr2:128335048-128335049	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576686838	chr2:128335094-128335095	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146159760	chr2:128335129-128335130	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374819524	chr2:128335182-128335183	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527861716	chr2:128335204-128335205	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138925639	chr2:128335208-128335209	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563833678	chr2:128335231-128335232	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369259561	chr2:128335257-128335258	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532828073	chr2:128335261-128335262	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13006332	chr2:128335271-128335272	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77219026	chr2:128335272-128335273	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149426735	chr2:128335304-128335305	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549264803	chr2:128335339-128335340	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565916661	chr2:128335342-128335343	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534789267	chr2:128335351-128335352	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554354764	chr2:128335362-128335363	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12987692	chr2:128335381-128335382	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114131884	chr2:128335382-128335383	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117684652	chr2:128335450-128335451	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576331995	chr2:128335467-128335468	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128321600-128352200	Strong transcription	Fetal Intestine Small	intestine
2	chr2:128328000-128370200	Weak transcription	Small Intestine	intestine
3	chr2:128330000-128350600	Strong transcription	Fetal Intestine Large	intestine
4	chr2:128330200-128346400	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr2:128330400-128349800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:128330800-128346600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:128332200-128334600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:128332200-128334800	Enhancers	Fetal Thymus	thymus
9	chr2:128332200-128335000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:128332200-128335400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:128332200-128336000	Enhancers	GM12878-XiMat	blood
12	chr2:128332200-128337000	Enhancers	Primary B cells from cord blood	blood
13	chr2:128332400-128334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:128332400-128334800	Enhancers	Primary T cells from cord blood	blood
15	chr2:128332600-128334600	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:128332600-128335600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:128332800-128334600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:128332800-128334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:128332800-128334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:128333000-128334800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:128333200-128334600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:128333200-128335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:128333200-128335600	Enhancers	Fetal Muscle Leg	muscle
24	chr2:128333400-128335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:128333400-128335000	Enhancers	NHDF-Ad	bronchial
26	chr2:128333600-128334600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:128333600-128334600	Enhancers	Right Atrium	heart
28	chr2:128333600-128334600	Enhancers	HSMMtube	muscle
29	chr2:128333600-128334800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:128333600-128334800	Enhancers	Fetal Heart	heart
31	chr2:128333600-128334800	Enhancers	HSMM	muscle
32	chr2:128333600-128335000	Enhancers	NHLF	lung
33	chr2:128333600-128335400	Enhancers	Psoas Muscle	Psoas
34	chr2:128333600-128335600	Enhancers	Placenta	Placenta
35	chr2:128333600-128335600	Enhancers	Spleen	Spleen
36	chr2:128333800-128334600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:128333800-128334600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:128333800-128334600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:128333800-128334600	Enhancers	Left Ventricle	heart
40	chr2:128333800-128334600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:128333800-128334800	Enhancers	Colon Smooth Muscle	Colon
42	chr2:128333800-128334800	Enhancers	Fetal Lung	lung
43	chr2:128333800-128334800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr2:128333800-128334800	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:128333800-128334800	Enhancers	HMEC	breast
46	chr2:128333800-128335000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:128333800-128335000	Enhancers	Right Ventricle	heart
48	chr2:128333800-128335400	Enhancers	Thymus	Thymus
49	chr2:128333800-128335800	Strong transcription	Colonic Mucosa	Colon
50	chr2:128334000-128334600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links