Variant report

Variant	nsv1010918
Chromosome Location	chr2:110826262-111398326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6140)
CpG islands
(count:2569)
Chromatin interactive
region (count:69)
LncRNA
region (count:67)
Mature miRNA
region (count: 5)
miRNA target
sites (count:2)

(count:6140 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:110962422-110963251	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:110962555-110963074	K562	blood:	n/a	n/a
3	ARID3A	chr2:110969892-110970391	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:110903443-110904181	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:111056846-111056853	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:110907344-110907902	K562	blood:	n/a	n/a
7	ARID3A	chr2:110955152-110955153	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:110969867-110970439	K562	blood:	n/a	n/a
9	ARID3A	chr2:110859522-110859666	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:110871867-110871999	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:110914785-110915086	K562	blood:	n/a	n/a
12	ATF1	chr2:110962363-110962896	K562	blood:	n/a	n/a
13	ATF1	chr2:110929088-110929321	K562	blood:	n/a	n/a
14	ATF2	chr2:110969961-110970452	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:110969840-110970514	GM12878	blood:	n/a	n/a
16	ATF2	chr2:110969900-110970393	GM12878	blood:	n/a	n/a
17	ATF3	chr2:110962365-110962828	HepG2	liver:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
18	ATF3	chr2:110858656-110859426	A549	lung:	n/a	n/a
19	ATF3	chr2:110863340-110864704	A549	lung:	n/a	n/a
20	ATF3	chr2:110962327-110962949	HepG2	liver:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
21	ATF3	chr2:110962474-110962794	H1-hESC	embryonic stem cell:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
22	ATF3	chr2:110858605-110859874	A549	lung:	n/a	n/a
23	ATF3	chr2:110962400-110962806	K562	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
24	ATF3	chr2:110863282-110864651	A549	lung:	n/a	n/a
25	ATF3	chr2:110962515-110962730	GM12878	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
26	ATF3	chr2:110962346-110962841	GM12878	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
27	ATF3	chr2:110962470-110962819	H1-hESC	embryonic stem cell:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
28	ATF3	chr2:110962420-110962802	K562	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
29	BACH1	chr2:110962546-110962912	K562	blood:	n/a	n/a
30	BACH1	chr2:110937562-110937683	K562	blood:	n/a	n/a
31	BACH1	chr2:110890558-110890583	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr2:110962493-110963081	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr2:111232378-111232909	GM12878	blood:	n/a	chr2:111232597-111232607 chr2:111232596-111232607
34	BATF	chr2:111233133-111233591	GM12878	blood:	n/a	n/a
35	BATF	chr2:111331428-111331964	GM12878	blood:	n/a	n/a
36	BATF	chr2:111232241-111232976	GM12878	blood:	n/a	chr2:111232597-111232607 chr2:111232596-111232607
37	BATF	chr2:110859621-110859879	GM12878	blood:	n/a	n/a
38	BATF	chr2:110901676-110901865	GM12878	blood:	n/a	n/a
39	BATF	chr2:111336012-111336348	GM12878	blood:	n/a	n/a
40	BATF	chr2:111223574-111223842	GM12878	blood:	n/a	chr2:111223720-111223731
41	BATF	chr2:111240946-111241446	GM12878	blood:	n/a	n/a
42	BATF	chr2:111294761-111295031	GM12878	blood:	n/a	n/a
43	BATF	chr2:111056677-111056894	GM12878	blood:	n/a	n/a
44	BATF	chr2:111291309-111291734	GM12878	blood:	n/a	n/a
45	BATF	chr2:110829579-110829796	GM12878	blood:	n/a	n/a
46	BATF	chr2:111331522-111331906	GM12878	blood:	n/a	n/a
47	BATF	chr2:111321137-111321431	GM12878	blood:	n/a	n/a
48	BATF	chr2:111257618-111257937	GM12878	blood:	n/a	n/a
49	BATF	chr2:111289765-111289968	GM12878	blood:	n/a	n/a
50	BATF	chr2:111289038-111289280	GM12878	blood:	n/a	n/a

(count:2569 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110876674-110876724	AG09309	skin:	n/a
2	chr2:110969853-110969903	U87	brain:	n/a
3	chr2:110973946-110973996	HepG2	liver:	n/a
4	chr2:111144784-111144834	NB4	blood:	n/a
5	chr2:111183275-111183325	GM12878	blood:	n/a
6	chr2:111183275-111183325	HMEC	breast:	n/a
7	chr2:111144784-111144834	HRE	kidney:	n/a
8	chr2:110876674-110876724	AG09309	skin:	n/a
9	chr2:110969853-110969903	U87	brain:	n/a
10	chr2:110973946-110973996	HepG2	liver:	n/a
11	chr2:111144784-111144834	NB4	blood:	n/a
12	chr2:111183275-111183325	GM12878	blood:	n/a
13	chr2:111183275-111183325	HMEC	breast:	n/a
14	chr2:111144784-111144834	HRE	kidney:	n/a
15	chr2:111367744-111367794	LNCaP	prostate:	n/a
16	chr2:110874344-110874394	HCM	heart:	n/a
17	chr2:110871644-110871694	HCT-116	colon:	n/a
18	chr2:111160867-111160917	BJ	skin:	n/a
19	chr2:110966283-110966333	NB4	blood:	n/a
20	chr2:110872655-110872705	T-47D	breast:	n/a
21	chr2:110970204-110970254	HNPCEpiC	eye:	n/a
22	chr2:110859091-110859141	Hepatocyte	liver:	n/a
23	chr2:110959266-110959316	MCF-7	breast:	n/a
24	chr2:110962626-110962676	PrEC	prostate:	n/a
25	chr2:110872655-110872705	GM19239	blood:	n/a
26	chr2:111183275-111183325	GM12892	blood:	n/a
27	chr2:110966283-110966333	CMK	blood:	n/a
28	chr2:110873394-110873444	HCPEpiC	choroid plexus:	n/a
29	chr2:110872620-110872670	CMK	blood:	n/a
30	chr2:110873394-110873444	Jurkat	blood:	n/a
31	chr2:110874360-110874410	NT2-D1	testis:	n/a
32	chr2:110873394-110873444	NT2-D1	testis:	n/a
33	chr2:110874360-110874410	MCF10A-Er-Src	breast:	n/a
34	chr2:110875551-110875601	NHDF-neo	bronchial:	n/a
35	chr2:110874344-110874394	PANC-1	pancreas:	n/a
36	chr2:110962594-110962644	HUVEC	blood vessel:	n/a
37	chr2:110969853-110969903	SAEC	small airway:	n/a
38	chr2:110962594-110962644	LNCaP	prostate:	n/a
39	chr2:110873031-110873081	HL-60	blood:	n/a
40	chr2:110872655-110872705	AG09309	skin:	n/a
41	chr2:110969641-110969691	NHDF-neo	bronchial:	n/a
42	chr2:110962626-110962676	RPTEC	kidney:	n/a
43	chr2:110963774-110963824	SK-N-MC	brain:	n/a
44	chr2:110970249-110970299	BE2_C	brain:	n/a
45	chr2:110962429-110962479	MCF10A-Er-Src	breast:	n/a
46	chr2:110871644-110871694	SK-N-MC	brain:	n/a
47	chr2:110962741-110962791	HCT-116	colon:	n/a
48	chr2:110872620-110872670	AG09319	gingival:	n/a
49	chr2:110973946-110973996	PFSK-1	brain:	n/a
50	chr2:111183275-111183325	HPAEpiC	pulmonary alveolar:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:110859680..110861955-chr2:110862122..110864189,2	MCF-7	breast:
2	chr2:110960357..110966320-chr2:110966517..110974106,19	K562	blood:
3	chr2:110863346..110864881-chr2:110906381..110908081,2	MCF-7	breast:
4	chr2:110870665..110876483-chr2:110879456..110884042,6	MCF-7	breast:
5	chr2:111393512..111396339-chr2:111405905..111409103,3	K562	blood:
6	chr2:110881943..110884295-chr2:110888302..110890520,2	MCF-7	breast:
7	chr2:110864486..110867223-chr2:110872239..110874303,2	MCF-7	breast:
8	chr2:110871483..110872172-chr2:110914465..110915379,4	MCF-7	breast:
9	chr2:110873456..110876325-chr2:110905236..110907102,2	MCF-7	breast:
10	chr2:110857860..110860963-chr2:110860996..110866153,6	MCF-7	breast:
11	chr2:110876469..110878609-chr2:110902842..110905689,2	MCF-7	breast:
12	chr2:111393886..111396195-chr2:111397054..111399333,2	K562	blood:
13	chr2:110862148..110865580-chr2:110871176..110875147,4	MCF-7	breast:
14	chr2:110966529..110970158-chr2:110976440..110980802,4	MCF-7	breast:
15	chr2:110875117..110876760-chr2:110880549..110882080,2	MCF-7	breast:
16	chr2:110881943..110884295-chr2:110888302..110890520,2	MCF-7	breast:
17	chr2:110859259..110860018-chr7:26239929..26240470,2	Hela-S3	cervix:
18	chr2:110873716..110875965-chr2:110877265..110879197,2	MCF-7	breast:
19	chr2:110863205..110865655-chr2:110910127..110912316,2	MCF-7	breast:
20	chr2:110967954..110970555-chr2:110974143..110976516,2	K562	blood:
21	chr2:110966498..110968962-chr2:110972533..110974101,2	K562	blood:
22	chr2:110858332..110860187-chr2:110869577..110871663,2	MCF-7	breast:
23	chr2:110859680..110861955-chr2:110862122..110864189,2	MCF-7	breast:
24	chr2:110857583..110859746-chr2:110914068..110916196,2	MCF-7	breast:
25	chr2:110926060..110928547-chr2:110928935..110931419,2	MCF-7	breast:
26	chr2:110859324..110861924-chr2:110871252..110875012,4	MCF-7	breast:
27	chr2:110869904..110873579-chr2:110876521..110879513,4	MCF-7	breast:
28	chr2:110967954..110970903-chr2:110974710..110976516,2	K562	blood:
29	chr2:110878722..110881260-chr2:110966564..110969008,2	MCF-7	breast:
30	chr2:110922454..110925211-chr2:110926455..110929229,2	MCF-7	breast:
31	chr2:110966529..110970158-chr2:110976440..110980802,4	MCF-7	breast:
32	chr2:110857860..110860963-chr2:110860996..110866153,6	MCF-7	breast:
33	chr2:110855266..110858639-chr2:110858645..110861501,3	MCF-7	breast:
34	chr2:110878722..110881260-chr2:110966564..110969008,2	MCF-7	breast:
35	chr2:110925820..110928862-chr2:110966345..110968999,3	K562	blood:
36	chr2:110873447..110874172-chr3:14443659..14444526,2	HCT-116	colon:
37	chr2:110873870..110875390-chr2:110887506..110889173,2	MCF-7	breast:
38	chr2:110922454..110925211-chr2:110926455..110929229,2	MCF-7	breast:
39	chr2:110857583..110859746-chr2:110914068..110916196,2	MCF-7	breast:
40	chr2:110926060..110928547-chr2:110928935..110931419,2	MCF-7	breast:
41	chr2:110904402..110906403-chr2:110923344..110925858,2	MCF-7	breast:
42	chr2:110855266..110858639-chr2:110858645..110861501,3	MCF-7	breast:
43	chr2:110863205..110865655-chr2:110910127..110912316,2	MCF-7	breast:
44	chr2:110876469..110878609-chr2:110902842..110905689,2	MCF-7	breast:
45	chr2:110855709..110858865-chr2:110862093..110865475,3	MCF-7	breast:
46	chr2:110876653..110878314-chr2:110879309..110881722,2	K562	blood:
47	chr2:110935898..110937753-chr2:110970388..110973084,2	MCF-7	breast:
48	chr2:110966498..110968920-chr2:110970202..110974033,3	K562	blood:
49	chr2:110882795..110884830-chr2:110896939..110900233,3	MCF-7	breast:
50	chr2:110875117..110876760-chr2:110880549..110882080,2	MCF-7	breast:

(count:67 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPHP1-1	chr2:110980314-110980516	ENSG00000175701
2	lnc-AC108938.5.1-3	chr2:111103493-111103519	XLOC_002264
3	lnc-LIMS3L-1	chr2:111205884-111205952	l_1919_chr2:111205111-111206470_testes
4	lnc-NPHP1-1	chr2:110973254-110973384	XLOC_002263
5	lnc-AC108938.5.1-3	chr2:111099475-111099768	XLOC_002264
6	lnc-NPHP1-1	chr2:111002565-111002997	ENSG00000175701
7	lnc-NPHP1-1	chr2:110974241-110974340	XLOC_002263
8	lnc-ACOXL-2	chr2:111208507-111208641	ENSG00000227574.2
9	lnc-LIMS3-2	chr2:111019009-111019090	ENSG00000261760.1
10	lnc-NPHP1-1	chr2:110969106-110969199	XLOC_002263
11	lnc-NPHP1-1	chr2:110969792-110970452	XLOC_002263
12	lnc-NPHP1-1	chr2:110980314-110980517	XLOC_002263
13	lnc-AC108938.5.1-5	chr2:111290092-111290150	NONHSAT073219
14	lnc-NPHP1-1	chr2:110977228-110977354	XLOC_002263
15	lnc-ACOXL-4	chr2:111152254-111152645	l_1918_chr2:111152253-111166825_testes
16	lnc-NPHP1-1	chr2:110969792-110970452	XLOC_002263
17	lnc-NPHP1-1	chr2:110974241-110974340	XLOC_002263
18	lnc-NPHP1-1	chr2:110973254-110973384	XLOC_002263
19	lnc-ACOXL-4	chr2:111166567-111171677	l_1918_chr2:111152253-111166825_testes
20	lnc-ACOXL-2	chr2:111206819-111206981	ENSG00000227574.2
21	lnc-AC108938.5.1-4	chr2:111190098-111190643	NONHSAT073215
22	lnc-AC108938.5.1-1	chr2:111181630-111181719	ENSG00000184115.11
23	lnc-ACOXL-6	chr2:111116367-111116703	NONHSAT073197
24	lnc-ACOXL-2	chr2:111207932-111208109	ENSG00000227574.2
25	lnc-NPHP1-1	chr2:110974241-110974340	ENSG00000175701
26	lnc-LIMS3-4	chr2:111084962-111085241	NONHSAT073195
27	lnc-NPHP1-1	chr2:110969106-110969199	ENSG00000175701
28	lnc-AC108938.5.1-1	chr2:111165515-111165596	ENSG00000184115.11
29	lnc-LIMS3-2	chr2:111020228-111020280	ENSG00000261760.1
30	lnc-LIMS3-2	chr2:111002889-111003223	ENSG00000261760.1
31	lnc-NPHP1-1	chr2:110969106-110969199	XLOC_002263
32	lnc-NPHP1-1	chr2:110971978-110972534	XLOC_002263
33	lnc-AC108938.5.1-1	chr2:111181238-111181450	ENSG00000184115.11
34	lnc-NPHP1-1	chr2:110973254-110973384	XLOC_002263
35	lnc-NPHP1-1	chr2:110977228-110977354	ENSG00000175701
36	lnc-NPHP1-1	chr2:110977228-110977354	XLOC_002263
37	lnc-LIMS3-2	chr2:110990334-110990416	ENSG00000261760.1
38	lnc-LIMS3-2	chr2:111002889-111002978	ENSG00000261760.1
39	lnc-LIMS3-2	chr2:110988683-110988727	ENSG00000261760.1
40	lnc-NPHP1-1	chr2:110975236-110975365	XLOC_002263
41	lnc-NPHP1-1	chr2:110973254-110973384	ENSG00000175701
42	lnc-LIMS3-2	chr2:110992960-110993594	ENSG00000261760.1
43	lnc-AC108938.5.1-1	chr2:111164327-111164379	ENSG00000184115.11
44	lnc-AC108938.5.1-2	chr2:111132754-111133006	NONHSAT073204
45	lnc-NPHP1-1	chr2:110974241-110974340	XLOC_002263
46	lnc-NPHP1-1	chr2:110972363-110972534	XLOC_002263
47	lnc-AC108938.5.1-2	chr2:111140281-111140810	ENSG00000175772
48	lnc-LIMS3L-1	chr2:111205112-111205683	l_1919_chr2:111205111-111206470_testes
49	lnc-AC108938.5.1-1	chr2:111181630-111181719	ENSG00000184115.11
50	lnc-LIMS3-4	chr2:111085984-111086450	NONHSAT073195

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4267	chr2:110827594-110827609	MIMAT0016893
hsa-miR-4436b-5p	chr2:111042442-111042463	MIMAT0019940_1
hsa-miR-4436b-5p	chr2:110844067-110844088	MIMAT0019940
hsa-miR-4436b-3p	chr2:110844020-110844041	MIMAT0019941
hsa-miR-4436b-3p	chr2:111042489-111042510	MIMAT0019941_1

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RGPD6	hsa-miR-15a-5p	chr2:111271797-111271818
2	RGPD6	hsa-miR-15a-5p	chr2:111271389-111271409

Variant related genes	Relation type
LINC00116	TF binding region
ENSG00000184115	TF binding region
ENSG00000231583	TF binding region
ENSG00000230596	TF binding region
MIR4436B1	TF binding region
MALL	TF binding region
NPHP1	TF binding region
ZBTB45P2	TF binding region
LINC01106	TF binding region
MIR4267	TF binding region
ENSG00000227574	TF binding region
ENSG00000212091	TF binding region
ENSG00000233370	TF binding region
ENSG00000216867	TF binding region
ENSG00000273471	TF binding region
ENSG00000230650	TF binding region
ENSG00000231536	TF binding region
ENSG00000226991	TF binding region
RGPD6	TF binding region
LIMS3L	TF binding region
ENSG00000261760	TF binding region
ENSG00000264336	TF binding region
ENSG00000257207	TF binding region
LINC00116	CpG island
ENSG00000184115	CpG island
ENSG00000231583	CpG island
ENSG00000230596	CpG island
MIR4436B1	CpG island
MALL	CpG island
NPHP1	CpG island
ZBTB45P2	CpG island
LINC01106	CpG island
MIR4267	CpG island
ENSG00000227574	CpG island
ENSG00000212091	CpG island
ENSG00000233370	CpG island
ENSG00000216867	CpG island
ENSG00000273471	CpG island
ENSG00000230650	CpG island
ENSG00000231536	CpG island
ENSG00000226991	CpG island
RGPD6	CpG island
LIMS3L	CpG island
ENSG00000261760	CpG island
ENSG00000264336	CpG island
ENSG00000257207	CpG island
ENSG00000231473	chromatin interactions
ENSG00000168411	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000082258	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000144061	chromatin interactions
ENSG00000169679	chromatin interactions
ENSG00000175701	chromatin interactions
ENSG00000212091	chromatin interactions
ENSG00000131389	chromatin interactions
ENSG00000144063	chromatin interactions
EEF1A1	miRNA target sites
SLC22A5	miRNA target sites
ITGB3	miRNA target sites
NUFIP2	miRNA target sites
HNRNPC	miRNA target sites
GATA6	miRNA target sites
POLK	miRNA target sites
HERC4	miRNA target sites
LAMP2	miRNA target sites
RICH2	miRNA target sites
ENDOD1	miRNA target sites
NRP1	miRNA target sites
HS2ST1	miRNA target sites
MUC17	miRNA target sites
EED	miRNA target sites
KLF6	miRNA target sites
SMARCE1	miRNA target sites

Extended variants
information (count: 5502 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5502 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143017486	chr2:110827648-110827649	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs200088175	chr2:110827654-110827655	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs372224207	chr2:110827666-110827667	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs13399431	chr2:110828562-110828563	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199854309	chr2:110828670-110828671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11898676	chr2:110829493-110829494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113874723	chr2:110829639-110829640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114606622	chr2:110829655-110829656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200991315	chr2:110829667-110829668	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs76780019	chr2:110829699-110829700	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs112168610	chr2:110829803-110829804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145234631	chr2:110829941-110829942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112830500	chr2:110829951-110829952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs76038634	chr2:110829956-110829957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs114227050	chr2:110844638-110844639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs147242361	chr2:110844680-110844681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201976208	chr2:110845196-110845197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201520124	chr2:110845207-110845208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200474510	chr2:110845249-110845250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs11675491	chr2:110847413-110847414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112809043	chr2:110847501-110847502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113460579	chr2:110847519-110847520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114566215	chr2:110847663-110847664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542837536	chr2:110847722-110847723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562697873	chr2:110847733-110847734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115751777	chr2:110847773-110847774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531827946	chr2:110847781-110847782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116179691	chr2:110847800-110847801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565108665	chr2:110847801-110847802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200346632	chr2:110847876-110847877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527690259	chr2:110848099-110848100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201120853	chr2:110848170-110848171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542182315	chr2:110848177-110848178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112864256	chr2:110848251-110848252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147635280	chr2:110848369-110848370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7556958	chr2:110848584-110848585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56218073	chr2:110848735-110848736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56369161	chr2:110848736-110848737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11891391	chr2:110848741-110848742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55785252	chr2:110848746-110848747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143018922	chr2:110848747-110848748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55694944	chr2:110848753-110848754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55670235	chr2:110848754-110848755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201788163	chr2:110848755-110848756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201465117	chr2:110848757-110848758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62160525	chr2:110848758-110848759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56379597	chr2:110848762-110848763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59842426	chr2:110848765-110848766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59787522	chr2:110848773-110848774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201134375	chr2:110848783-110848784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Ovarian cancer	21781307	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Clear cell renal cell carcinoma	18791270	CNVD

Chromatin state (count:2817 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110847200-110853600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:110849000-110849600	Enhancers	HUVEC	blood vessel
3	chr2:110849600-110852800	Weak transcription	HUVEC	blood vessel
4	chr2:110851400-110856400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:110851600-110853200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:110851800-110853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:110851800-110855400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:110852400-110852800	Weak transcription	A549	lung
9	chr2:110852600-110853400	Enhancers	Fetal Lung	lung
10	chr2:110852600-110853600	Enhancers	Stomach Mucosa	stomach
11	chr2:110852600-110857200	Weak transcription	Colonic Mucosa	Colon
12	chr2:110852800-110853200	Enhancers	HUVEC	blood vessel
13	chr2:110852800-110853600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:110852800-110854600	Weak transcription	HMEC	breast
15	chr2:110852800-110858600	Genic enhancers	A549	lung
16	chr2:110853200-110853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:110853200-110853600	Enhancers	NHLF	lung
18	chr2:110853200-110854800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:110853200-110856400	Weak transcription	HUVEC	blood vessel
20	chr2:110853400-110854800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:110853400-110854800	Weak transcription	Fetal Lung	lung
22	chr2:110853600-110854000	Enhancers	Lung	lung
23	chr2:110853600-110855000	Weak transcription	Stomach Mucosa	stomach
24	chr2:110853600-110857800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:110853600-110858000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:110853600-110858000	Strong transcription	Fetal Intestine Small	intestine
27	chr2:110853600-110858000	Weak transcription	NHLF	lung
28	chr2:110854000-110856400	Weak transcription	Lung	lung
29	chr2:110854400-110855800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:110854600-110860600	Enhancers	HMEC	breast
31	chr2:110854800-110855000	Enhancers	Esophagus	oesophagus
32	chr2:110854800-110855000	Enhancers	NHEK	skin
33	chr2:110854800-110855200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:110854800-110855200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:110854800-110855200	Enhancers	Fetal Lung	lung
36	chr2:110854800-110856000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:110855000-110855200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:110855000-110855200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:110855000-110855200	Flanking Active TSS	Esophagus	oesophagus
40	chr2:110855000-110855600	Flanking Active TSS	NHEK	skin
41	chr2:110855000-110855800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:110855000-110855800	Enhancers	Stomach Mucosa	stomach
43	chr2:110855200-110855400	Enhancers	Hela-S3	cervix
44	chr2:110855200-110855600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:110855200-110855800	Active TSS	Esophagus	oesophagus
46	chr2:110855200-110855800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:110855200-110857400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:110855200-110858000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:110855200-110858200	Weak transcription	Fetal Lung	lung
50	chr2:110855400-110855800	Enhancers	Duodenum Mucosa	Duodenum

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