Variant report

Variant	esv2830158
Chromosome Location	chr2:110727715-111419426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7137)
CpG islands
(count:2570)
Chromatin interactive
region (count:82)
LncRNA
region (count:77)
Mature miRNA
region (count: 5)
miRNA target
sites (count:2)

(count:7137 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:111056846-111056853	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:111398827-111398870	K562	blood:	n/a	n/a
3	ARID3A	chr2:110969892-110970391	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:110969867-110970439	K562	blood:	n/a	n/a
5	ARID3A	chr2:110962555-110963074	K562	blood:	n/a	n/a
6	ARID3A	chr2:110859522-110859666	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:110914785-110915086	K562	blood:	n/a	n/a
8	ARID3A	chr2:110962422-110963251	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:110955152-110955153	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:111399730-111399777	K562	blood:	n/a	n/a
11	ARID3A	chr2:110903443-110904181	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:110871867-110871999	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:110907344-110907902	K562	blood:	n/a	n/a
14	ATF1	chr2:110962363-110962896	K562	blood:	n/a	n/a
15	ATF1	chr2:110929088-110929321	K562	blood:	n/a	n/a
16	ATF2	chr2:110969840-110970514	GM12878	blood:	n/a	n/a
17	ATF2	chr2:110969961-110970452	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr2:110969900-110970393	GM12878	blood:	n/a	n/a
19	ATF3	chr2:110962400-110962806	K562	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
20	ATF3	chr2:110962470-110962819	H1-hESC	embryonic stem cell:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
21	ATF3	chr2:110962515-110962730	GM12878	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
22	ATF3	chr2:110858656-110859426	A549	lung:	n/a	n/a
23	ATF3	chr2:110962346-110962841	GM12878	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
24	ATF3	chr2:110962420-110962802	K562	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
25	ATF3	chr2:110863282-110864651	A549	lung:	n/a	n/a
26	ATF3	chr2:110962327-110962949	HepG2	liver:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
27	ATF3	chr2:110962365-110962828	HepG2	liver:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
28	ATF3	chr2:110962474-110962794	H1-hESC	embryonic stem cell:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
29	ATF3	chr2:110863340-110864704	A549	lung:	n/a	n/a
30	ATF3	chr2:110858605-110859874	A549	lung:	n/a	n/a
31	BACH1	chr2:110937562-110937683	K562	blood:	n/a	n/a
32	BACH1	chr2:110962546-110962912	K562	blood:	n/a	n/a
33	BACH1	chr2:110962493-110963081	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr2:110890558-110890583	H1-hESC	embryonic stem cell:	n/a	n/a
35	BATF	chr2:111370823-111371062	GM12878	blood:	n/a	n/a
36	BATF	chr2:111334473-111334925	GM12878	blood:	n/a	n/a
37	BATF	chr2:111289038-111289280	GM12878	blood:	n/a	n/a
38	BATF	chr2:110738365-110738645	GM12878	blood:	n/a	n/a
39	BATF	chr2:111232378-111232909	GM12878	blood:	n/a	chr2:111232597-111232607 chr2:111232596-111232607
40	BATF	chr2:111257618-111257937	GM12878	blood:	n/a	n/a
41	BATF	chr2:110829579-110829796	GM12878	blood:	n/a	n/a
42	BATF	chr2:111257490-111257944	GM12878	blood:	n/a	n/a
43	BATF	chr2:111331522-111331906	GM12878	blood:	n/a	n/a
44	BATF	chr2:111232241-111232976	GM12878	blood:	n/a	chr2:111232597-111232607 chr2:111232596-111232607
45	BATF	chr2:111233133-111233591	GM12878	blood:	n/a	n/a
46	BATF	chr2:111152421-111152665	GM12878	blood:	n/a	n/a
47	BATF	chr2:110901676-110901865	GM12878	blood:	n/a	n/a
48	BATF	chr2:111330294-111330532	GM12878	blood:	n/a	n/a
49	BATF	chr2:110901606-110901868	GM12878	blood:	n/a	n/a
50	BATF	chr2:111231178-111231552	GM12878	blood:	n/a	n/a

(count:2570 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110966283-110966333	GM12891	blood:	n/a
2	chr2:110966283-110966333	PANC-1	pancreas:	n/a
3	chr2:110873031-110873081	T-47D	breast:	n/a
4	chr2:111183275-111183325	HCF	heart:	n/a
5	chr2:110859091-110859141	ProgFib	skin:	n/a
6	chr2:110973946-110973996	HCT-116	colon:	n/a
7	chr2:110962034-110962084	PrEC	prostate:	n/a
8	chr2:110959266-110959316	GM12892	blood:	n/a
9	chr2:110966283-110966333	GM12891	blood:	n/a
10	chr2:110966283-110966333	PANC-1	pancreas:	n/a
11	chr2:110873031-110873081	T-47D	breast:	n/a
12	chr2:111183275-111183325	HCF	heart:	n/a
13	chr2:110859091-110859141	ProgFib	skin:	n/a
14	chr2:110973946-110973996	HCT-116	colon:	n/a
15	chr2:110962034-110962084	PrEC	prostate:	n/a
16	chr2:110959266-110959316	GM12892	blood:	n/a
17	chr2:110827645-110827695	SAEC	small airway:	n/a
18	chr2:110959266-110959316	SK-N-SH	brain:	n/a
19	chr2:111144784-111144834	HUVEC	blood vessel:	n/a
20	chr2:111183275-111183325	ProgFib	skin:	n/a
21	chr2:110962034-110962084	HepG2	liver:	n/a
22	chr2:110969641-110969691	HIPEpiC	eye:	n/a
23	chr2:110962594-110962644	NH-A	brain:	n/a
24	chr2:111160867-111160917	LNCaP	prostate:	n/a
25	chr2:110833739-110833789	HL-60	blood:	n/a
26	chr2:110973946-110973996	PANC-1	pancreas:	n/a
27	chr2:110859091-110859141	Hepatocyte	liver:	n/a
28	chr2:110973946-110973996	NHDF-neo	bronchial:	n/a
29	chr2:110973946-110973996	Hela-S3	cervix:	n/a
30	chr2:110979750-110979800	HCF	heart:	n/a
31	chr2:110827645-110827695	HMEC	breast:	n/a
32	chr2:110873485-110873535	HAEpiC	amniotic membrane:	n/a
33	chr2:110962741-110962791	GM12878	blood:	n/a
34	chr2:110970097-110970147	NT2-D1	testis:	n/a
35	chr2:110970204-110970254	NH-A	brain:	n/a
36	chr2:110959266-110959316	HRPEpiC	eye:	n/a
37	chr2:110871644-110871694	GM12891	blood:	n/a
38	chr2:110827645-110827695	CMK	blood:	n/a
39	chr2:110969641-110969691	PFSK-1	brain:	n/a
40	chr2:110873031-110873081	HRE	kidney:	n/a
41	chr2:110872620-110872670	AG04449	skin:	fetal
42	chr2:110874360-110874410	SK-N-SH	brain:	n/a
43	chr2:110962687-110962737	GM19239	blood:	n/a
44	chr2:110875551-110875601	NT2-D1	testis:	n/a
45	chr2:110872620-110872670	HNPCEpiC	eye:	n/a
46	chr2:111144784-111144834	Jurkat	blood:	n/a
47	chr2:110962687-110962737	ProgFib	skin:	n/a
48	chr2:110873396-110873446	PrEC	prostate:	n/a
49	chr2:110875551-110875601	MCF-7	breast:	n/a
50	chr2:111144784-111144834	AG09319	gingival:	n/a

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:110875117..110876760-chr2:110880549..110882080,2	MCF-7	breast:
2	chr2:110904402..110906403-chr2:110923344..110925858,2	MCF-7	breast:
3	chr2:111404628..111406815-chr2:111414817..111418033,3	K562	blood:
4	chr2:110862148..110865580-chr2:110871176..110875147,4	MCF-7	breast:
5	chr2:111399412..111401364-chr2:111406078..111408025,2	K562	blood:
6	chr2:110857583..110859746-chr2:110914068..110916196,2	MCF-7	breast:
7	chr2:110926060..110928547-chr2:110928935..110931419,2	MCF-7	breast:
8	chr2:110855709..110858865-chr2:110862093..110865475,3	MCF-7	breast:
9	chr2:110873870..110875390-chr2:110887506..110889173,2	MCF-7	breast:
10	chr2:111417148..111420155-chr2:111422664..111426427,4	K562	blood:
11	chr2:110859324..110861924-chr2:110871252..110875012,4	MCF-7	breast:
12	chr2:110855266..110858639-chr2:110858645..110861501,3	MCF-7	breast:
13	chr2:111393512..111396339-chr2:111405905..111409103,3	K562	blood:
14	chr13:48877293..48878024-chr2:110970017..110970558,2	Hela-S3	cervix:
15	chr2:110871483..110872172-chr2:110914465..110915379,4	MCF-7	breast:
16	chr2:110878722..110881260-chr2:110966564..110969008,2	MCF-7	breast:
17	chr2:110855709..110858865-chr2:110862093..110865475,3	MCF-7	breast:
18	chr2:110974053..110977090-chr2:110977502..110981259,3	MCF-7	breast:
19	chr2:110857860..110860963-chr2:110860996..110866153,6	MCF-7	breast:
20	chr2:111410514..111412334-chr2:111420425..111422233,2	K562	blood:
21	chr16:74700318..74701202-chr2:110873506..110874030,2	HCT-116	colon:
22	chr2:111404628..111406815-chr2:111414817..111418033,3	K562	blood:
23	chr2:110966498..110968962-chr2:110972533..110974101,2	K562	blood:
24	chr2:110857583..110859746-chr2:110914068..110916196,2	MCF-7	breast:
25	chr2:111412529..111415499-chr2:111427252..111428761,2	K562	blood:
26	chr2:110966498..110968962-chr2:110972533..110974101,2	K562	blood:
27	chr2:110974053..110977090-chr2:110977502..110981259,3	MCF-7	breast:
28	chr2:110876469..110878609-chr2:110902842..110905689,2	MCF-7	breast:
29	chr2:110904402..110906403-chr2:110923344..110925858,2	MCF-7	breast:
30	chr2:111417412..111419778-chr2:111421877..111423912,2	MCF-7	breast:
31	chr2:110876469..110878609-chr2:110902842..110905689,2	MCF-7	breast:
32	chr2:110869904..110873579-chr2:110876521..110879513,4	MCF-7	breast:
33	chr2:110863205..110865655-chr2:110910127..110912316,2	MCF-7	breast:
34	chr2:110855266..110858639-chr2:110858645..110861501,3	MCF-7	breast:
35	chr2:110880610..110883092-chr2:110962084..110964585,2	MCF-7	breast:
36	chr2:110857860..110860963-chr2:110860996..110866153,6	MCF-7	breast:
37	chr2:110873447..110874172-chr3:14443659..14444526,2	HCT-116	colon:
38	chr2:110870665..110876483-chr2:110879456..110884042,6	MCF-7	breast:
39	chr2:110969609..110970570-chr2:135675536..135676123,2	NB4	blood:
40	chr2:110859680..110861955-chr2:110862122..110864189,2	MCF-7	breast:
41	chr2:111410330..111414018-chr2:111416096..111419092,4	K562	blood:
42	chr2:110876653..110878314-chr2:110879309..110881722,2	K562	blood:
43	chr2:110872387..110874922-chr2:110875122..110878209,5	MCF-7	breast:
44	chr2:110881943..110884295-chr2:110888302..110890520,2	MCF-7	breast:
45	chr2:110925820..110928862-chr2:110966345..110968999,3	K562	blood:
46	chr2:110875117..110876760-chr2:110880549..110882080,2	MCF-7	breast:
47	chr2:110922454..110925211-chr2:110926455..110929229,2	MCF-7	breast:
48	chr2:111393886..111396195-chr2:111397054..111399333,2	K562	blood:
49	chr2:110873456..110876325-chr2:110905236..110907102,2	MCF-7	breast:
50	chr2:110878722..110881260-chr2:110966564..110969008,2	MCF-7	breast:

(count:77 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGPD6-1	chr2:111408123-111408316	NONHSAT073226
2	lnc-AC108938.5.1-2	chr2:111140281-111140810	ENSG00000175772
3	lnc-LIMS3L-1	chr2:111206402-111206470	l_1919_chr2:111205111-111206470_testes
4	lnc-NPHP1-1	chr2:110973254-110973384	XLOC_002263
5	lnc-NPHP1-1	chr2:110980314-110980516	ENSG00000175701
6	lnc-LIMS3-4	chr2:111085984-111086450	NONHSAT073195
7	lnc-LIMS3-4	chr2:111084962-111085241	NONHSAT073195
8	lnc-LIMS3L-1	chr2:111205112-111205683	l_1919_chr2:111205111-111206470_testes
9	lnc-ACOXL-2	chr2:111206819-111206981	ENSG00000227574.2
10	lnc-NPHP1-1	chr2:110969106-110969199	ENSG00000175701
11	lnc-NPHP1-1	chr2:110973254-110973384	XLOC_002263
12	lnc-AC108938.5.1-1	chr2:111191013-111191250	ENSG00000184115.11
13	lnc-AC108938.5.1-1	chr2:111143988-111144974	ENSG00000184115.11
14	lnc-AC108938.5.1-1	chr2:111181630-111181719	ENSG00000184115.11
15	lnc-LIMS3L-1	chr2:111205884-111205952	l_1919_chr2:111205111-111206470_testes
16	lnc-AC108938.5.1-1	chr2:111164327-111164379	ENSG00000184115.11
17	lnc-NPHP1-1	chr2:110977228-110977354	XLOC_002263
18	lnc-LIMS3-2	chr2:111002889-111003223	ENSG00000261760.1
19	lnc-NPHP1-1	chr2:110975236-110975365	ENSG00000175701
20	lnc-NPHP1-1	chr2:110969792-110970452	ENSG00000175701
21	lnc-LIMS3-1	chr2:110751978-110753717	ENSG00000204588
22	lnc-NPHP1-1	chr2:110976785-110977090	XLOC_002263
23	lnc-NPHP1-1	chr2:110975236-110975365	XLOC_002263
24	lnc-NPHP1-1	chr2:111002565-111002997	ENSG00000175701
25	lnc-LIMS3-1	chr2:110744703-110744767	NONHSAT073165
26	lnc-LIMS3-2	chr2:111003158-111003370	ENSG00000261760.1
27	lnc-NPHP1-1	chr2:110972363-110972534	ENSG00000175701
28	lnc-NPHP1-1	chr2:110972362-110972534	XLOC_002263
29	lnc-AC108938.5.1-5	chr2:111291043-111291201	NONHSAT073219
30	lnc-AC108938.5.1-4	chr2:111190098-111190643	NONHSAT073215
31	lnc-AC108938.5.1-5	chr2:111290092-111290150	NONHSAT073219
32	lnc-NPHP1-1	chr2:110977228-110977354	ENSG00000175701
33	lnc-NPHP1-1	chr2:110969792-110970452	XLOC_002263
34	lnc-AC108938.5.1-1	chr2:111191013-111191250	ENSG00000184115.11
35	lnc-NPHP1-1	chr2:110980314-110980517	XLOC_002263
36	lnc-LIMS3-1	chr2:110746130-110746278	NONHSAT073165
37	lnc-AC108938.5.1-2	chr2:111132733-111134645	ENSG00000175772
38	lnc-AC108938.5.1-1	chr2:111181238-111181450	ENSG00000184115.11
39	lnc-AC108938.5.1-1	chr2:111181238-111181450	ENSG00000184115.11
40	lnc-NPHP1-1	chr2:110969792-110970452	XLOC_002263
41	lnc-NPHP1-1	chr2:110975236-110975365	XLOC_002263
42	lnc-LIMS3-2	chr2:111002889-111002978	ENSG00000261760.1
43	lnc-NPHP1-1	chr2:110980314-110980517	XLOC_002263
44	lnc-ACOXL-4	chr2:111152254-111152645	l_1918_chr2:111152253-111166825_testes
45	lnc-NPHP1-1	chr2:110971978-110972534	XLOC_002263
46	lnc-LIMS3-1	chr2:110745849-110746379	ENSG00000204588
47	lnc-ACOXL-4	chr2:111166567-111171677	l_1918_chr2:111152253-111166825_testes
48	lnc-NPHP1-1	chr2:110973254-110973384	ENSG00000175701
49	lnc-LIMS3-1	chr2:110746317-110746379	NONHSAT073165
50	lnc-RGPD6-1	chr2:111406394-111406954	NONHSAT073226

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

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

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

Variant related genes	Relation type
ENSG00000235721	TF binding region
ENSG00000229730	TF binding region
GPAA1P1	TF binding region
MIR4436B1	TF binding region
ENSG00000216867	TF binding region
LINC00116	TF binding region
ENSG00000273471	TF binding region
ENSG00000184115	TF binding region
ENSG00000230650	TF binding region
ENSG00000231583	TF binding region
ENSG00000231536	TF binding region
ENSG00000230596	TF binding region
LINC01123	TF binding region
ENSG00000226991	TF binding region
RGPD6	TF binding region
MALL	TF binding region
LIMS3L	TF binding region
BUB1	TF binding region
ENSG00000261760	TF binding region
NPHP1	TF binding region
ZBTB45P2	TF binding region
ENSG00000264336	TF binding region
LINC01106	TF binding region
MIR4267	TF binding region
ENSG00000227574	TF binding region
ZBTB45P1	TF binding region
ENSG00000212091	TF binding region
ENSG00000233370	TF binding region
ENSG00000257207	TF binding region
ENSG00000235721	CpG island
ENSG00000229730	CpG island
GPAA1P1	CpG island
MIR4436B1	CpG island
ENSG00000216867	CpG island
LINC00116	CpG island
ENSG00000273471	CpG island
ENSG00000184115	CpG island
ENSG00000230650	CpG island
ENSG00000231583	CpG island
ENSG00000231536	CpG island
ENSG00000230596	CpG island
LINC01123	CpG island
ENSG00000226991	CpG island
RGPD6	CpG island
MALL	CpG island
LIMS3L	CpG island
BUB1	CpG island
ENSG00000261760	CpG island
NPHP1	CpG island
ZBTB45P2	CpG island
ENSG00000264336	CpG island
LINC01106	CpG island
MIR4267	CpG island
ENSG00000227574	CpG island
ZBTB45P1	CpG island
ENSG00000212091	CpG island
ENSG00000233370	CpG island
ENSG00000257207	CpG island
ENSG00000168411	chromatin interactions
ENSG00000144061	chromatin interactions
ENSG00000169679	chromatin interactions
ENSG00000231473	chromatin interactions
ENSG00000144063	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000082258	chromatin interactions
ENSG00000212091	chromatin interactions
ENSG00000131389	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000175701	chromatin interactions
ITGB3	miRNA target sites
RICH2	miRNA target sites
HS2ST1	miRNA target sites
HERC4	miRNA target sites
EEF1A1	miRNA target sites
KLF6	miRNA target sites
SMARCE1	miRNA target sites
LAMP2	miRNA target sites
HNRNPC	miRNA target sites
EED	miRNA target sites
MUC17	miRNA target sites
NRP1	miRNA target sites
POLK	miRNA target sites
SLC22A5	miRNA target sites
ENDOD1	miRNA target sites
NUFIP2	miRNA target sites
GATA6	miRNA target sites

Extended variants
information (count: 6416 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:6416 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540625662	chr2:110738259-110738260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs336701	chr2:110738305-110738306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369269722	chr2:110738327-110738328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560727210	chr2:110738391-110738392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529603276	chr2:110738494-110738495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549743418	chr2:110738737-110738738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185889550	chr2:110738774-110738775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531964331	chr2:110738777-110738778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199500468	chr2:110738798-110738799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550367611	chr2:110738812-110738813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs367985110	chr2:110738843-110738844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538696574	chr2:110738844-110738845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539014538	chr2:110738899-110738900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546569449	chr2:110738931-110738932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2124961	chr2:110739130-110739131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs563189274	chr2:110739678-110739679	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs571399457	chr2:110742211-110742212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs339196	chr2:110742626-110742627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373152667	chr2:110743667-110743668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs336709	chr2:110743690-110743691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533992791	chr2:110743774-110743775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554277122	chr2:110743814-110743815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565138343	chr2:110743840-110743841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs200875767	chr2:110743841-110743842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs388398	chr2:110743852-110743853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs142252171	chr2:110743856-110743857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62159145	chr2:110744420-110744421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs377420291	chr2:110745996-110745997	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs188552360	chr2:110746170-110746171	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs539306421	chr2:110746193-110746194	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs67932826	chr2:110746204-110746205	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs572573222	chr2:110746240-110746241	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs542732988	chr2:110746576-110746577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370823008	chr2:110749174-110749175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs559776662	chr2:110749659-110749660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376647021	chr2:110749833-110749834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567909426	chr2:110750038-110750039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564090933	chr2:110750041-110750042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371148779	chr2:110752474-110752475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs374410466	chr2:110752547-110752548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs542359240	chr2:110752772-110752773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs368759779	chr2:110752774-110752775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs371117761	chr2:110752796-110752797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs373637784	chr2:110752797-110752798	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs336708	chr2:110752828-110752829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs367775221	chr2:110752837-110752838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs78186126	chr2:110752838-110752839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs201575560	chr2:110752859-110752860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs562481253	chr2:110752877-110752878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs368197526	chr2:110752879-110752880	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3246 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110746000-110746400	Active TSS	Fetal Intestine Small	intestine
2	chr2:110757400-110757600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:110783800-110784000	Enhancers	Fetal Intestine Large	intestine
4	chr2:110783800-110786000	Weak transcription	Pancreas	Pancrea
5	chr2:110785800-110792600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:110786000-110786400	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:110792600-110793000	Enhancers	Pancreas	Pancrea
8	chr2:110805800-110806600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:110805800-110806600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:110806000-110806600	Enhancers	Pancreas	Pancrea
11	chr2:110806000-110807600	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:110806000-110807600	Enhancers	HepG2	liver
13	chr2:110806200-110806600	Enhancers	HSMMtube	muscle
14	chr2:110806400-110807000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:110810400-110811000	Enhancers	HUVEC	blood vessel
16	chr2:110810600-110810800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:110810600-110810800	Enhancers	Fetal Heart	heart
18	chr2:110810600-110810800	Enhancers	A549	lung
19	chr2:110810600-110810800	Enhancers	NHEK	skin
20	chr2:110810600-110811000	Enhancers	Fetal Lung	lung
21	chr2:110810600-110811000	Enhancers	Dnd41	blood
22	chr2:110811000-110812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:110811000-110812000	Weak transcription	Fetal Heart	heart
24	chr2:110811000-110812000	Weak transcription	Fetal Lung	lung
25	chr2:110811000-110812000	Weak transcription	A549	lung
26	chr2:110811000-110812000	Weak transcription	HUVEC	blood vessel
27	chr2:110811000-110812000	Weak transcription	NHEK	skin
28	chr2:110812000-110812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:110812000-110812200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:110812000-110812200	Enhancers	Fetal Brain Male	brain
31	chr2:110812000-110812200	Enhancers	Fetal Lung	lung
32	chr2:110812000-110812400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:110812000-110812400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:110812000-110812400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:110812000-110812400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:110812000-110812400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:110812000-110812400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:110812000-110812400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:110812000-110812400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:110812000-110812400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:110812000-110812400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:110812000-110812400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:110812000-110812400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:110812000-110812400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:110812000-110812400	Enhancers	Brain Hippocampus Middle	brain
46	chr2:110812000-110812400	Enhancers	Fetal Heart	heart
47	chr2:110812000-110812400	Enhancers	Fetal Intestine Large	intestine
48	chr2:110812000-110812400	Enhancers	Fetal Intestine Small	intestine
49	chr2:110812000-110812400	Enhancers	Fetal Stomach	stomach
50	chr2:110812000-110812400	Enhancers	Left Ventricle	heart

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