Variant report

Variant	nsv455819
Chromosome Location	chr2:19987440-20095690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1260)
CpG islands
(count:1038)
Chromatin interactive
region (count:74)
LncRNA
region (count:57)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1260 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:20063178-20063502	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:20094358-20094577	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:20095240-20095557	K562	blood:	n/a	n/a
4	ATF1	chr2:20095339-20095591	K562	blood:	n/a	n/a
5	ATF2	chr2:20093437-20094037	GM12878	blood:	n/a	n/a
6	ATF2	chr2:20063079-20063518	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:20063000-20063509	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr2:20063061-20063558	A549	lung:	n/a	n/a
9	BACH1	chr2:20081685-20081696	K562	blood:	n/a	n/a
10	BACH1	chr2:20068379-20068856	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:20062993-20063465	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:19987593-19987604	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr2:20093555-20093876	GM12878	blood:	n/a	n/a
14	BATF	chr2:20072844-20073130	GM12878	blood:	n/a	n/a
15	BATF	chr2:20093433-20093856	GM12878	blood:	n/a	n/a
16	BCL3	chr2:20000988-20001948	A549	lung:	n/a	n/a
17	BCLAF1	chr2:20093319-20094014	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:20063129-20063833	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:20001197-20001437	HepG2	liver:	n/a	n/a
20	BHLHE40	chr2:20001100-20001461	A549	lung:	n/a	n/a
21	BHLHE40	chr2:20093417-20093917	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:20063209-20063530	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:19989147-19989322	K562	blood:	n/a	n/a
24	BHLHE40	chr2:20068356-20068619	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:20006494-20006734	K562	blood:	n/a	chr2:20006610-20006619 chr2:20006610-20006619 chr2:20006608-20006621 chr2:20006609-20006618 chr2:20006604-20006625
26	BHLHE40	chr2:20062368-20062699	K562	blood:	n/a	chr2:20062544-20062553 chr2:20062543-20062556 chr2:20062539-20062560 chr2:20062545-20062554 chr2:20062545-20062554 chr2:20062546-20062555
27	BHLHE40	chr2:20001134-20001423	K562	blood:	n/a	n/a
28	BHLHE40	chr2:20063167-20063465	K562	blood:	n/a	n/a
29	BHLHE40	chr2:20091919-20091946	GM12878	blood:	n/a	n/a
30	BRCA1	chr2:20063155-20063469	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr2:20063025-20063675	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr2:20063239-20063439	HepG2	liver:	n/a	n/a
33	BRCA1	chr2:20091913-20091980	GM12878	blood:	n/a	n/a
34	CBX3	chr2:20000998-20001724	HCT-116	colon:	n/a	n/a
35	CBX3	chr2:20063081-20063514	K562	blood:	n/a	n/a
36	CCNT2	chr2:20063185-20063725	K562	blood:	n/a	n/a
37	CCNT2	chr2:20001211-20001414	K562	blood:	n/a	n/a
38	CCNT2	chr2:20068425-20068599	K562	blood:	n/a	n/a
39	CCNT2	chr2:20095316-20095673	K562	blood:	n/a	n/a
40	CCNT2	chr2:20094348-20094580	K562	blood:	n/a	n/a
41	CCNT2	chr2:20026738-20026939	K562	blood:	n/a	n/a
42	CEBPB	chr2:19997508-19998179	MCF-7	breast:	n/a	chr2:19997833-19997844
43	CEBPB	chr2:20000962-20001922	A549	lung:	n/a	n/a
44	CEBPB	chr2:20091824-20092001	K562	blood:	n/a	n/a
45	CEBPB	chr2:20063205-20063426	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr2:19997520-19998075	MCF-7	breast:	n/a	chr2:19997833-19997844
47	CEBPB	chr2:20059571-20060175	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:20001127-20001523	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:20046011-20046101	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:19997679-19997990	HepG2	liver:	n/a	chr2:19997833-19997844

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20075083-20075133	HL-60	blood:	n/a
2	chr2:20075083-20075133	HL-60	blood:	n/a
3	chr2:20064988-20065038	SKMC	muscle:	n/a
4	chr2:20068906-20068956	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:20071212-20071262	ECC-1	luminal epithelium:	n/a
6	chr2:20068484-20068534	ovcar-3	ovarian:	n/a
7	chr2:20019129-20019179	T-47D	breast:	n/a
8	chr2:20063304-20063354	PrEC	prostate:	n/a
9	chr2:20068384-20068434	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:20001490-20001540	NT2-D1	testis:	n/a
11	chr2:20068702-20068752	AG04450	lung:	fetal
12	chr2:20001490-20001540	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:20068484-20068534	BE2_C	brain:	n/a
14	chr2:20060804-20060854	GM12891	blood:	n/a
15	chr2:20060804-20060854	SKMC	muscle:	n/a
16	chr2:20057796-20057846	Hepatocyte	liver:	n/a
17	chr2:20069134-20069184	AoSMC	blood vessel:	n/a
18	chr2:20068906-20068956	HL-60	blood:	n/a
19	chr2:20063376-20063426	AG09319	gingival:	n/a
20	chr2:20064988-20065038	HRCEpiC	kidney:	n/a
21	chr2:20068871-20068921	HMEC	breast:	n/a
22	chr2:20068484-20068534	MCF10A-Er-Src	breast:	n/a
23	chr2:20075083-20075133	NB4	blood:	n/a
24	chr2:20064988-20065038	NH-A	brain:	n/a
25	chr2:20064988-20065038	HL-60	blood:	n/a
26	chr2:20068384-20068434	Caco-2	colon:	n/a
27	chr2:20060804-20060854	HRPEpiC	eye:	n/a
28	chr2:20068484-20068534	H1-hESC	embryonic stem cell:	embryo
29	chr2:20019129-20019179	HRE	kidney:	n/a
30	chr2:20068384-20068434	HL-60	blood:	n/a
31	chr2:20063461-20063511	NH-A	brain:	n/a
32	chr2:20067114-20067164	GM12878	blood:	n/a
33	chr2:20063376-20063426	AG10803	skin:	n/a
34	chr2:20067114-20067164	MCF-7	breast:	n/a
35	chr2:20060804-20060854	AG04449	skin:	fetal
36	chr2:20067114-20067164	HCPEpiC	choroid plexus:	n/a
37	chr2:20071212-20071262	HL-60	blood:	n/a
38	chr2:20057796-20057846	HCF	heart:	n/a
39	chr2:20064988-20065038	NT2-D1	testis:	n/a
40	chr2:20068484-20068534	HCPEpiC	choroid plexus:	n/a
41	chr2:20071212-20071262	SK-N-MC	brain:	n/a
42	chr2:20068702-20068752	HCM	heart:	n/a
43	chr2:20068384-20068434	HRCEpiC	kidney:	n/a
44	chr2:20019129-20019179	AG04450	lung:	fetal
45	chr2:20068906-20068956	AG10803	skin:	n/a
46	chr2:20001490-20001540	HIPEpiC	eye:	n/a
47	chr2:20071212-20071262	GM19239	blood:	n/a
48	chr2:20067114-20067164	PANC-1	pancreas:	n/a
49	chr2:20068702-20068752	GM06990	blood:	n/a
50	chr2:20064988-20065038	PFSK-1	brain:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:18568690..18569227-chr2:20063102..20063706,2	MCF-7	breast:
2	chr2:19997706..20001446-chr2:20001464..20003557,4	MCF-7	breast:
3	chr2:20063170..20065730-chr2:20100500..20102018,2	MCF-7	breast:
4	chr2:19984950..19987899-chr2:19994485..19997173,2	K562	blood:
5	chr2:20071334..20073956-chr2:20101317..20103670,2	K562	blood:
6	chr2:19997706..20001446-chr2:20001464..20003557,4	MCF-7	breast:
7	chr2:20001252..20004559-chr2:20018197..20020950,3	MCF-7	breast:
8	chr2:20067006..20069123-chr2:20072397..20077057,4	K562	blood:
9	chr2:20001741..20003758-chr2:20004906..20008094,3	MCF-7	breast:
10	chr2:20081830..20085351-chr2:20100728..20102773,3	MCF-7	breast:
11	chr2:19983582..19988390-chr2:19994942..20000184,6	MCF-7	breast:
12	chr2:19984516..19987082-chr2:19990162..19992121,2	MCF-7	breast:
13	chr2:19977143..19979803-chr2:20091279..20093604,2	K562	blood:
14	chr2:19986165..19988032-chr2:20101157..20102793,2	K562	blood:
15	chr2:18931125..18931994-chr2:20062474..20063307,2	MCF-7	breast:
16	chr2:20060793..20063745-chr2:20067045..20068888,2	MCF-7	breast:
17	chr2:19546028..19547830-chr2:19994849..19996736,2	K562	blood:
18	chr2:20063399..20066786-chr2:20072740..20074746,3	K562	blood:
19	chr2:19990153..19991699-chr2:19997416..19999039,2	K562	blood:
20	chr2:19562452..19563244-chr2:20062794..20063614,2	K562	blood:
21	chr2:20089099..20091154-chr2:20092345..20094469,2	MCF-7	breast:
22	chr2:20022094..20024842-chr2:20051460..20054311,2	MCF-7	breast:
23	chr2:20073905..20076651-chr2:20094852..20097192,2	K562	blood:
24	chr2:20085889..20088843-chr2:20102352..20104719,3	MCF-7	breast:
25	chr2:19592208..19593951-chr2:20061932..20064637,2	MCF-7	breast:
26	chr2:20074079..20076562-chr2:20079303..20081491,2	K562	blood:
27	chr2:20040876..20043874-chr2:20047602..20050190,2	MCF-7	breast:
28	chr2:20022094..20024842-chr2:20051460..20054311,2	MCF-7	breast:
29	chr2:18663724..18664634-chr2:20062948..20063698,3	MCF-7	breast:
30	chr2:20010392..20012487-chr2:20017045..20018834,2	MCF-7	breast:
31	chr2:19999043..20004023-chr2:20005976..20009212,5	MCF-7	breast:
32	chr2:19999043..20004023-chr2:20005976..20009212,5	MCF-7	breast:
33	chr2:18701353..18702868-chr2:20062861..20063796,5	K562	blood:
34	chr2:19990153..19991699-chr2:19997416..19999039,2	K562	blood:
35	chr2:19568889..19569500-chr2:20062919..20063476,3	MCF-7	breast:
36	chr2:20072609..20074273-chr2:20296535..20298173,2	K562	blood:
37	chr2:19992797..19994794-chr2:19997090..19999498,3	MCF-7	breast:
38	chr2:20091934..20093841-chr2:20217101..20219993,2	K562	blood:
39	chr2:20089099..20091154-chr2:20092345..20094469,2	MCF-7	breast:
40	chr2:20063399..20066786-chr2:20072740..20074746,3	K562	blood:
41	chr2:20023081..20025991-chr2:20033526..20036412,2	MCF-7	breast:
42	chr2:20070422..20073365-chr2:20086034..20088934,3	MCF-7	breast:
43	chr2:20010392..20012487-chr2:20017045..20018834,2	MCF-7	breast:
44	chr2:20074079..20076562-chr2:20079303..20081491,2	K562	blood:
45	chr2:20070422..20073365-chr2:20086034..20088934,3	MCF-7	breast:
46	chr2:20001252..20004559-chr2:20018197..20020950,3	MCF-7	breast:
47	chr2:19568949..19569749-chr2:20062849..20063723,3	MCF-7	breast:
48	chr2:20023081..20025991-chr2:20033526..20036412,2	MCF-7	breast:
49	chr2:19968959..19969762-chr2:20050616..20051566,5	MCF-7	breast:
50	chr2:19994631..19997268-chr2:20100204..20102465,3	K562	blood:

(count:57 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-18	chr2:20034108-20034317	NONHSAT069408
2	lnc-RHOB-4	chr2:20070163-20070307	NONHSAT069409
3	lnc-RHOB-4	chr2:20069257-20069374	XLOC_001379
4	lnc-RHOB-4	chr2:20069257-20069374	ENSG00000228784
5	lnc-RHOB-4	chr2:20070163-20070307	ENSG00000228784
6	lnc-RHOB-4	chr2:20072893-20073125	XLOC_001379
7	lnc-RHOB-4	chr2:20075564-20077296	ENSG00000228784
8	lnc-RHOB-4	chr2:20075564-20075704	XLOC_001379
9	lnc-RHOB-4	chr2:20072893-20073125	ENSG00000228784
10	lnc-RHOB-4	chr2:20075564-20077154	ENSG00000228784
11	lnc-RHOB-4	chr2:20082376-20082496	ENSG00000228784
12	lnc-RHOB-4	chr2:20083911-20084807	XLOC_001379
13	lnc-RHOB-4	chr2:20078997-20079961	ENSG00000228784
14	lnc-RHOB-4	chr2:20068635-20068713	ENSG00000228784
15	lnc-RHOB-4	chr2:20072154-20072357	ENSG00000228784
16	lnc-RHOB-4	chr2:20072154-20072357	XLOC_001379
17	lnc-TTC32-1	chr2:20086970-20087312	NONHSAT069413
18	lnc-RHOB-4	chr2:20075564-20075704	NONHSAT069409
19	lnc-RHOB-4	chr2:20072154-20072291	ENSG00000228784
20	lnc-RHOB-4	chr2:20070163-20070307	XLOC_001379
21	lnc-RHOB-4	chr2:20069257-20069374	ENSG00000228784
22	lnc-RHOB-4	chr2:20072154-20072357	ENSG00000228784
23	lnc-RHOB-4	chr2:20072893-20073125	NONHSAT069409
24	lnc-RHOB-4	chr2:20075564-20075752	XLOC_001379
25	lnc-RHOB-4	chr2:20070186-20070307	ENSG00000228784
26	lnc-RHOB-4	chr2:20068836-20068917	ENSG00000228784
27	lnc-RHOB-4	chr2:20072893-20073125	ENSG00000228784
28	lnc-RHOB-4	chr2:20068615-20068713	NONHSAT069409
29	lnc-TTC32-1	chr2:20085174-20085637	NONHSAT069413
30	lnc-RHOB-4	chr2:20068615-20068713	XLOC_001379
31	lnc-RHOB-4	chr2:20083319-20083409	XLOC_001379
32	lnc-TTC32-1	chr2:20076651-20077164	NONHSAT069413
33	lnc-RHOB-4	chr2:20069257-20069374	ENSG00000228784
34	lnc-RHOB-4	chr2:20082376-20082496	NONHSAT069409
35	lnc-RHOB-4	chr2:20083911-20084808	NONHSAT069409
36	lnc-RHOB-4	chr2:20078997-20079961	XLOC_001379
37	lnc-RHOB-4	chr2:20083319-20083409	XLOC_001379
38	lnc-RHOB-4	chr2:20082402-20082496	XLOC_001379
39	lnc-RHOB-4	chr2:20068652-20068713	ENSG00000228784
40	lnc-RHOB-4	chr2:20083911-20084808	ENSG00000228784
41	lnc-RHOB-4	chr2:20083319-20083409	ENSG00000228784
42	lnc-TTC32-1	chr2:20081743-20082310	NONHSAT069413
43	lnc-RHOB-4	chr2:20070186-20070307	ENSG00000228784
44	lnc-RHOB-4	chr2:20082376-20082496	XLOC_001379
45	lnc-RHOB-4	chr2:20068652-20068713	ENSG00000228784
46	lnc-RHOB-4	chr2:20068621-20068713	ENSG00000228784
47	lnc-RHOB-4	chr2:20083319-20083409	NONHSAT069409
48	lnc-RHOB-4	chr2:20072893-20073125	ENSG00000228784
49	lnc-RHOB-4	chr2:20078997-20079961	NONHSAT069409
50	lnc-RHOB-4	chr2:20069257-20069374	ENSG00000228784

No data

Variant related genes	Relation type
LINC00954	TF binding region
CISD1P1	TF binding region
LINC00954	CpG island
CISD1P1	CpG island
ENSG00000236204	chromatin interactions
ENSG00000228784	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000271991	chromatin interactions
SUSD1	miRNA target sites
BLCAP	miRNA target sites
MRC2	miRNA target sites
YTHDC1	miRNA target sites
CTDSPL	miRNA target sites
ADAM9	miRNA target sites
ITGB1	miRNA target sites
ARHGAP32	miRNA target sites
ARCN1	miRNA target sites
POU4F2	miRNA target sites
HIF1A	miRNA target sites
TLE3	miRNA target sites
E2F5	miRNA target sites
SUPT7L	miRNA target sites
IDH2	miRNA target sites
PPARGC1A	miRNA target sites
TCEA2	miRNA target sites
ALG2	miRNA target sites
FOXP1	miRNA target sites

Extended variants
information (count: 4170 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4170 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1204005	chr2:19987440-19987441	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143404663	chr2:19987449-19987450	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555426971	chr2:19987453-19987454	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147150513	chr2:19987489-19987490	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77550590	chr2:19987501-19987502	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553082828	chr2:19987507-19987508	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573234278	chr2:19987514-19987515	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138719893	chr2:19987526-19987527	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77359133	chr2:19987552-19987553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs74824012	chr2:19987573-19987574	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142753257	chr2:19987611-19987612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144762918	chr2:19987626-19987627	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577823283	chr2:19987648-19987649	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530338952	chr2:19987661-19987662	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540965820	chr2:19987663-19987664	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184924663	chr2:19987689-19987690	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532163190	chr2:19987728-19987729	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574219649	chr2:19987732-19987733	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192310794	chr2:19987737-19987738	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183741557	chr2:19987746-19987747	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114729220	chr2:19987754-19987755	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148563327	chr2:19987792-19987793	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533840677	chr2:19987793-19987794	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554062111	chr2:19987807-19987808	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566736680	chr2:19987808-19987809	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370477234	chr2:19987810-19987811	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558596246	chr2:19987811-19987812	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575336232	chr2:19987825-19987826	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368874073	chr2:19987870-19987871	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187032235	chr2:19987878-19987879	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538011042	chr2:19987914-19987915	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554735774	chr2:19987916-19987917	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575027142	chr2:19987958-19987959	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540551600	chr2:19987978-19987979	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111304345	chr2:19988005-19988006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34085545	chr2:19988012-19988013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544581469	chr2:19988018-19988019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576730658	chr2:19988033-19988034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555523253	chr2:19988035-19988036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538844606	chr2:19988067-19988068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142959495	chr2:19988068-19988069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562523367	chr2:19988073-19988074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531424909	chr2:19988084-19988085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200816153	chr2:19988091-19988092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541185196	chr2:19988092-19988093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191516496	chr2:19988097-19988098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386643808	chr2:19988099-19988100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151182106	chr2:19988103-19988104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376496073	chr2:19988104-19988105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201594449	chr2:19988120-19988121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:19985200-19990200	Weak transcription	Right Atrium	heart
4	chr2:19985400-19987800	Enhancers	A549	lung
5	chr2:19985800-19987600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:19986000-19987800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:19986000-19988000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:19986400-19987600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:19986400-19987600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:19986800-19987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:19986800-19987600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:19986800-19987600	Enhancers	K562	blood
13	chr2:19986800-20001800	Weak transcription	Aorta	Aorta
14	chr2:19987000-19988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:19987000-19988000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:19987000-19989800	Weak transcription	HSMMtube	muscle
17	chr2:19987200-19996200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:19987400-19988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:19987400-19989600	Weak transcription	HSMM	muscle
20	chr2:19987600-19991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:19987800-19996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:19988600-19988800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:19989600-19990400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:19989600-19990600	Enhancers	HSMM	muscle
25	chr2:19989800-19990600	Enhancers	HSMMtube	muscle
26	chr2:19990200-19990400	Enhancers	Right Atrium	heart
27	chr2:19990600-19995600	Weak transcription	HSMM	muscle
28	chr2:19991800-19992000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:19993000-19994000	Enhancers	Fetal Heart	heart
30	chr2:19993200-19993800	Enhancers	Pancreas	Pancrea
31	chr2:19994800-19996000	Enhancers	Fetal Brain Male	brain
32	chr2:19995000-19995600	Enhancers	NHDF-Ad	bronchial
33	chr2:19995200-19998000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:19995400-19995600	Enhancers	Placenta	Placenta
35	chr2:19995400-19995800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:19995400-19995800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:19995400-19995800	Enhancers	HMEC	breast
38	chr2:19995400-19995800	Enhancers	Osteobl	bone
39	chr2:19995600-19995800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:19995600-19995800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:19995600-19995800	Enhancers	HSMM	muscle
42	chr2:19995600-19995800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr2:19995600-19996400	Flanking Active TSS	NHEK	skin
44	chr2:19995600-19997000	Enhancers	HSMMtube	muscle
45	chr2:19995600-19997200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:19995800-19996000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:19995800-19996000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:19995800-19996000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:19995800-19996000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:19995800-19996200	Flanking Active TSS	HMEC	breast

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