Variant report

Variant	esv2757799
Chromosome Location	chr2:56178439-56472394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3424)
CpG islands
(count:3236)
Chromatin interactive
region (count:104)
LncRNA
region (count:43)
Mature miRNA
region (count: 5)
miRNA target
sites (count:0)

(count:3424 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:56236932-56237132	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:56431664-56432109	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:56357678-56357944	K562	blood:	n/a	n/a
4	ARID3A	chr2:56359299-56359671	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:56360713-56361628	K562	blood:	n/a	n/a
6	ARID3A	chr2:56236978-56237196	K562	blood:	n/a	n/a
7	ARID3A	chr2:56345293-56346040	K562	blood:	n/a	n/a
8	ARID3A	chr2:56359341-56359672	K562	blood:	n/a	n/a
9	ARID3A	chr2:56357648-56357918	HepG2	liver:	n/a	n/a
10	ATF1	chr2:56345600-56346004	K562	blood:	n/a	n/a
11	ATF2	chr2:56345577-56345997	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:56345691-56346081	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr2:56354256-56354419	K562	blood:	n/a	n/a
14	ATF3	chr2:56410617-56410948	A549	lung:	n/a	n/a
15	ATF3	chr2:56345664-56346130	K562	blood:	n/a	n/a
16	ATF3	chr2:56219488-56220127	A549	lung:	n/a	n/a
17	BACH1	chr2:56345528-56345845	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:56344590-56344790	K562	blood:	n/a	n/a
19	BACH1	chr2:56304682-56304972	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:56422899-56422975	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr2:56410838-56411083	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr2:56409640-56409806	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr2:56219437-56220124	A549	lung:	n/a	n/a
24	BCL3	chr2:56219311-56220202	A549	lung:	n/a	n/a
25	BHLHE40	chr2:56418881-56419050	K562	blood:	n/a	n/a
26	BHLHE40	chr2:56355091-56355163	K562	blood:	n/a	n/a
27	BHLHE40	chr2:56311315-56311590	K562	blood:	n/a	n/a
28	BHLHE40	chr2:56426174-56426613	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:56378263-56378301	A549	lung:	n/a	n/a
30	BHLHE40	chr2:56179662-56179772	K562	blood:	n/a	n/a
31	BHLHE40	chr2:56369951-56370064	K562	blood:	n/a	n/a
32	BHLHE40	chr2:56361155-56361204	K562	blood:	n/a	n/a
33	BHLHE40	chr2:56410720-56411023	GM12878	blood:	n/a	chr2:56410938-56410954
34	BHLHE40	chr2:56410676-56411058	K562	blood:	n/a	chr2:56410938-56410954
35	BHLHE40	chr2:56424945-56425329	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:56362106-56362195	K562	blood:	n/a	n/a
37	BHLHE40	chr2:56212773-56212857	GM12878	blood:	n/a	n/a
38	BHLHE40	chr2:56376113-56376321	GM12878	blood:	n/a	n/a
39	BHLHE40	chr2:56346957-56347152	K562	blood:	n/a	n/a
40	BHLHE40	chr2:56345522-56346047	K562	blood:	n/a	n/a
41	BRCA1	chr2:56219474-56220033	Hela-S3	cervix:	n/a	chr2:56219959-56219966
42	BRCA1	chr2:56410869-56411032	HepG2	liver:	n/a	n/a
43	BRCA1	chr2:56357631-56357958	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr2:56185307-56185905	Hela-S3	cervix:	n/a	chr2:56185516-56185523
45	BRCA1	chr2:56418921-56419060	HepG2	liver:	n/a	n/a
46	BRCA1	chr2:56248103-56249019	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr2:56410728-56411043	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr2:56418783-56419000	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr2:56457381-56457608	Hela-S3	cervix:	n/a	n/a
50	CBX3	chr2:56206371-56206758	HCT-116	colon:	n/a	n/a

(count:3236 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56410780-56410830	HAEpiC	amniotic membrane:	n/a
2	chr2:56216195-56216245	HCT-116	colon:	n/a
3	chr2:56410676-56410726	LNCaP	prostate:	n/a
4	chr2:56410780-56410830	HAEpiC	amniotic membrane:	n/a
5	chr2:56216195-56216245	HCT-116	colon:	n/a
6	chr2:56410676-56410726	LNCaP	prostate:	n/a
7	chr2:56413253-56413303	U87	brain:	n/a
8	chr2:56415578-56415628	HL-60	blood:	n/a
9	chr2:56413069-56413119	A549	lung:	n/a
10	chr2:56411072-56411122	HRPEpiC	eye:	n/a
11	chr2:56216794-56216844	SK-N-SH	brain:	n/a
12	chr2:56213573-56213623	HRCEpiC	kidney:	n/a
13	chr2:56410833-56410883	T-47D	breast:	n/a
14	chr2:56210182-56210232	GM06990	blood:	n/a
15	chr2:56220104-56220154	AG10803	skin:	n/a
16	chr2:56410143-56410193	AG09319	gingival:	n/a
17	chr2:56216086-56216136	CMK	blood:	n/a
18	chr2:56412924-56412974	HCF	heart:	n/a
19	chr2:56410143-56410193	GM12891	blood:	n/a
20	chr2:56216938-56216988	SK-N-SH_RA	brain:	n/a
21	chr2:56415578-56415628	HAEpiC	amniotic membrane:	n/a
22	chr2:56412077-56412127	SK-N-SH_RA	brain:	n/a
23	chr2:56318438-56318488	HRCEpiC	kidney:	n/a
24	chr2:56410382-56410432	HUVEC	blood vessel:	n/a
25	chr2:56461845-56461895	RPTEC	kidney:	n/a
26	chr2:56411583-56411633	HNPCEpiC	eye:	n/a
27	chr2:56407143-56407193	MCF10A-Er-Src	breast:	n/a
28	chr2:56410071-56410121	GM06990	blood:	n/a
29	chr2:56412077-56412127	MCF-7	breast:	n/a
30	chr2:56216794-56216844	NH-A	brain:	n/a
31	chr2:56412060-56412110	SK-N-MC	brain:	n/a
32	chr2:56216234-56216284	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:56410197-56410247	HAEpiC	amniotic membrane:	n/a
34	chr2:56410011-56410061	PFSK-1	brain:	n/a
35	chr2:56461845-56461895	Hepatocyte	liver:	n/a
36	chr2:56412361-56412411	HAEpiC	amniotic membrane:	n/a
37	chr2:56318614-56318664	AG10803	skin:	n/a
38	chr2:56409774-56409824	BE2_C	brain:	n/a
39	chr2:56216195-56216245	T-47D	breast:	n/a
40	chr2:56216938-56216988	GM12892	blood:	n/a
41	chr2:56410197-56410247	HCT-116	colon:	n/a
42	chr2:56192635-56192685	HEEpiC	esophagus:	n/a
43	chr2:56409774-56409824	AG04450	lung:	fetal
44	chr2:56410087-56410137	PFSK-1	brain:	n/a
45	chr2:56213573-56213623	SAEC	small airway:	n/a
46	chr2:56420072-56420122	K562	blood:	n/a
47	chr2:56413069-56413119	Caco-2	colon:	n/a
48	chr2:56413137-56413187	HEEpiC	esophagus:	n/a
49	chr2:56236435-56236485	HCPEpiC	choroid plexus:	n/a
50	chr2:56413137-56413187	K562	blood:	n/a

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:56264938..56268189-chr2:56268987..56273621,4	K562	blood:
2	chr2:56418873..56419603-chr2:56975911..56976760,2	MCF-7	breast:
3	chr2:56347349..56349192-chr2:56353229..56355396,2	K562	blood:
4	chr2:56410583..56414683-chr2:56417427..56420502,4	MCF-7	breast:
5	chr2:56308630..56311434-chr2:56349661..56352014,2	MCF-7	breast:
6	chr2:56456139..56458402-chr2:56461204..56463383,2	K562	blood:
7	chr2:56396246..56398806-chr2:56410372..56412063,2	MCF-7	breast:
8	chr2:56214240..56215835-chr2:56218212..56220191,2	MCF-7	breast:
9	chr2:55958747..55960432-chr2:56187012..56189326,2	K562	blood:
10	chr2:56315975..56318654-chr2:56340489..56342924,2	K562	blood:
11	chr2:56150165..56151052-chr2:56188223..56189072,3	MCF-7	breast:
12	chr2:56395307..56398284-chr2:56402876..56406233,3	MCF-7	breast:
13	chr2:56001464..56004424-chr2:56185372..56187665,3	MCF-7	breast:
14	chr2:56395307..56398284-chr2:56402876..56406233,3	MCF-7	breast:
15	chr2:56217008..56219233-chr2:56221111..56224102,2	MCF-7	breast:
16	chr2:56308630..56311434-chr2:56349661..56352014,2	MCF-7	breast:
17	chr2:56342001..56344983-chr2:56348767..56350916,2	K562	blood:
18	chr2:56256665..56259031-chr2:56263506..56265195,2	K562	blood:
19	chr2:56387289..56389369-chr2:56393881..56395588,2	K562	blood:
20	chr16:75033537..75035200-chr2:56403126..56405221,2	MCF-7	breast:
21	chr2:56149371..56151100-chr2:56187829..56189531,2	MCF-7	breast:
22	chr2:56370169..56372361-chr2:56373050..56375591,3	K562	blood:
23	chr2:56347349..56350216-chr2:56353199..56356668,4	K562	blood:
24	chr2:56464641..56466230-chr2:56471449..56473593,2	K562	blood:
25	chr2:56338244..56341178-chr2:56349675..56352414,2	MCF-7	breast:
26	chr2:56263078..56265066-chr2:56267815..56270034,2	MCF-7	breast:
27	chr2:56214240..56215835-chr2:56218212..56220191,2	MCF-7	breast:
28	chr2:56337806..56342628-chr2:56343291..56347033,6	K562	blood:
29	chr18:34349661..34350238-chr2:56250449..56251399,2	MCF-7	breast:
30	chr2:56245989..56248851-chr2:56250326..56251890,2	K562	blood:
31	chr2:56234512..56236770-chr2:56238872..56240573,2	K562	blood:
32	chr2:55945011..55946407-chr2:56188187..56189117,5	K562	blood:
33	chr2:56369334..56371717-chr2:56376735..56378498,2	K562	blood:
34	chr2:56337806..56342628-chr2:56343291..56347033,6	K562	blood:
35	chr2:56387289..56389369-chr2:56393881..56395588,2	K562	blood:
36	chr2:55998494..55999415-chr2:56188226..56189063,2	MCF-7	breast:
37	chr2:56304414..56305364-chr2:56359067..56359975,5	K562	blood:
38	chr2:56174984..56177810-chr2:56181564..56184235,2	K562	blood:
39	chr2:56226604..56228495-chr2:56245596..56247592,2	K562	blood:
40	chr2:56369334..56371717-chr2:56376735..56378498,2	K562	blood:
41	chr2:56464641..56466230-chr2:56471449..56473593,2	K562	blood:
42	chr2:56210378..56212902-chr2:56214953..56217834,2	K562	blood:
43	chr2:56343483..56346053-chr2:56349208..56350916,2	K562	blood:
44	chr2:56352055..56354777-chr2:56356409..56359024,3	K562	blood:
45	chr2:56240005..56242551-chr2:56253553..56255982,2	K562	blood:
46	chr2:55945048..55945967-chr2:56236595..56237551,5	K562	blood:
47	chr2:55945407..55945989-chr2:56188428..56188986,2	MCF-7	breast:
48	chr2:56295326..56298009-chr2:56299848..56302574,2	MCF-7	breast:
49	chr2:56337806..56341873-chr2:56342839..56347033,7	K562	blood:
50	chr2:56357220..56358069-chr2:57743520..57744164,2	MCF-7	breast:

(count:43 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-2	chr2:56304552-56305190	ENSG00000229805
2	lnc-EFEMP1-1	chr2:56186575-56191017	NONHSAT070812
3	lnc-EFEMP1-3	chr2:56404698-56404870	NONHSAT070821
4	lnc-EFEMP1-1	chr2:56274357-56274461	ENSG00000226702
5	lnc-EFEMP1-2	chr2:56317445-56317514	NONHSAT070819
6	lnc-CCDC85A-2	chr2:56397136-56397330	ENSG00000272180.1
7	lnc-CCDC85A-4	chr2:56257864-56258003	ucscGeneNc_uc002rzk_2
8	lnc-EFEMP1-3	chr2:56411759-56412043	ENSG00000233251.3
9	lnc-CCDC85A-2	chr2:56407181-56407324	ENSG00000272180.1
10	lnc-EFEMP1-3	chr2:56412833-56412905	ENSG00000233251
11	lnc-CCDC85A-4	chr2:56260685-56260828	ucscGeneNc_uc002rzk_2
12	lnc-EFEMP1-3	chr2:56407134-56407297	NONHSAT070825
13	lnc-EFEMP1-3	chr2:56403639-56403832	NONHSAT070824
14	lnc-EFEMP1-3	chr2:56400669-56403285	NONHSAT070821
15	lnc-CCDC85A-2	chr2:56374765-56374875	ENSG00000272180.1
16	lnc-CCDC85A-2	chr2:56309504-56309580	ENSG00000272180.1
17	lnc-CCDC85A-2	chr2:56374765-56374879	NONHSAT070820
18	lnc-EFEMP1-3	chr2:56412833-56412905	NONHSAT070821
19	lnc-CCDC85A-2	chr2:56408262-56408787	ENSG00000272180.1
20	lnc-EFEMP1-1	chr2:56216612-56216843	NONHSAT070812
21	lnc-CCDC85A-2	chr2:56404360-56404499	ENSG00000272180.1
22	lnc-EFEMP1-1	chr2:56183727-56185924	NONHSAT070812
23	lnc-EFEMP1-3	chr2:56401875-56403285	ENSG00000233251
24	lnc-EFEMP1-3	chr2:56404698-56404870	ENSG00000233251.3
25	lnc-EFEMP1-2	chr2:56301789-56305190	NONHSAT070819
26	lnc-EFEMP1-3	chr2:56404698-56404870	NONHSAT070824
27	lnc-EFEMP1-3	chr2:56406738-56406895	NONHSAT070824
28	lnc-CCDC85A-2	chr2:56179293-56179374	ENSG00000272180.1
29	lnc-EFEMP1-3	chr2:56400669-56403285	ENSG00000233251.3
30	lnc-EFEMP1-3	chr2:56410502-56410809	NONHSAT070825
31	lnc-EFEMP1-1	chr2:56202902-56203042	NONHSAT070812
32	lnc-CCDC85A-4	chr2:56261766-56262291	ucscGeneNc_uc002rzk_2
33	lnc-CCDC85A-4	chr2:56250640-56250834	ucscGeneNc_uc002rzk_2
34	lnc-EFEMP1-1	chr2:56200943-56202732	NONHSAT070812
35	lnc-EFEMP1-3	chr2:56404698-56404870	ENSG00000233251
36	lnc-CCDC85A-4	chr2:56228269-56228379	ucscGeneNc_uc002rzk_2
37	lnc-EFEMP1-2	chr2:56317445-56317511	XLOC_002100
38	lnc-EFEMP1-2	chr2:56317445-56317517	ENSG00000229805
39	lnc-EFEMP1-5	chr2:56178789-56179149	NONHSAT070810
40	lnc-EFEMP1-1	chr2:56190326-56191017	ENSG00000226702
41	lnc-EFEMP1-1	chr2:56240744-56240846	ENSG00000226702
42	lnc-EFEMP1-2	chr2:56301789-56305190	XLOC_002100
43	lnc-CCDC85A-2	chr2:56345217-56345306	NONHSAT070820

miRNA name	Chromosome Location	mirBase accession
hsa-miR-216b-3p	chr2:56227859-56227882	MIMAT0026721
hsa-miR-216b-5p	chr2:56227899-56227920	MIMAT0004959
hsa-miR-216a-3p	chr2:56216116-56216137	MIMAT0022844
hsa-miR-216a-5p	chr2:56216155-56216176	MIMAT0000273
hsa-miR-217	chr2:56210155-56210177	MIMAT0000274

No data

Variant related genes	Relation type
CCDC85A	TF binding region
MIR217	TF binding region
ENSG00000272180	TF binding region
ENSG00000226702	TF binding region
ENSG00000233251	TF binding region
ENSG00000229805	TF binding region
MIR216B	TF binding region
ENSG00000271894	TF binding region
RNA5SP93	TF binding region
RN7SKP208	TF binding region
MIR216A	TF binding region
CCDC85A	CpG island
MIR217	CpG island
ENSG00000272180	CpG island
ENSG00000226702	CpG island
ENSG00000233251	CpG island
ENSG00000229805	CpG island
MIR216B	CpG island
ENSG00000271894	CpG island
RNA5SP93	CpG island
RN7SKP208	CpG island
MIR216A	CpG island
ENSG00000109475	chromatin interactions
ENSG00000233251	chromatin interactions
ENSG00000271894	chromatin interactions
ENSG00000229805	chromatin interactions
ENSG00000004478	chromatin interactions
ENSG00000207798	chromatin interactions
ENSG00000138035	chromatin interactions
ENSG00000234492	chromatin interactions
ENSG00000103091	chromatin interactions
ENSG00000055813	chromatin interactions
ENSG00000115380	chromatin interactions
ENSG00000226702	chromatin interactions
ENSG00000186187	chromatin interactions
ENSG00000199395	chromatin interactions
ENSG00000211520	chromatin interactions
CDC42	Mature miRNA region
SIRT1	Mature miRNA region
EZH2	Mature miRNA region
TRAPPC2P1	Mature miRNA region
CD44	Mature miRNA region
PPM1D	Mature miRNA region
ROBO1	Mature miRNA region
CSNK2A1	Mature miRNA region
PTEN	Mature miRNA region
KRAS	Mature miRNA region
FHIT	Mature miRNA region
SMAD7	Mature miRNA region
NR4A2	Mature miRNA region
GNG5	miRNA target sites
SUV39H1	miRNA target sites
YIPF1	miRNA target sites

Extended variants
information (count: 10501 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:10501 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553477082	chr2:56178448-56178449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376539454	chr2:56178477-56178478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74557798	chr2:56178485-56178486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182981924	chr2:56178490-56178491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115660225	chr2:56178492-56178493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114018540	chr2:56178509-56178510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150599603	chr2:56178582-56178583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187321417	chr2:56178583-56178584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572183205	chr2:56178596-56178597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370301832	chr2:56178661-56178662	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540701564	chr2:56178705-56178706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs560618899	chr2:56178710-56178711	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565453122	chr2:56178732-56178733	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529298434	chr2:56178733-56178734	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543003076	chr2:56178736-56178737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562874119	chr2:56178741-56178742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532005449	chr2:56178762-56178763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551820302	chr2:56178791-56178792	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs139620740	chr2:56178827-56178828	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs149720274	chr2:56178835-56178836	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs547079751	chr2:56178839-56178840	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs566979873	chr2:56178865-56178866	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs146713227	chr2:56178867-56178868	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs76820952	chr2:56178882-56178883	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs569564389	chr2:56178887-56178888	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs538910518	chr2:56178891-56178892	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs555471284	chr2:56178930-56178931	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs572205129	chr2:56178985-56178986	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs55749412	chr2:56179009-56179010	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73940368	chr2:56179013-56179014	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574136141	chr2:56179016-56179017	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs116656747	chr2:56179018-56179019	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs562837884	chr2:56179068-56179069	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs114254392	chr2:56179114-56179115	Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs114245575	chr2:56179171-56179172	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190239085	chr2:56179203-56179204	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545817014	chr2:56179226-56179227	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369369255	chr2:56179235-56179236	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs4258837	chr2:56179284-56179285	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144262298	chr2:56179308-56179309	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377118442	chr2:56179327-56179328	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs529704217	chr2:56179334-56179335	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369762658	chr2:56179356-56179357	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs374507587	chr2:56179422-56179423	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146570410	chr2:56179456-56179457	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs149146766	chr2:56179459-56179460	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113349491	chr2:56179476-56179477	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377761850	chr2:56179532-56179533	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548191293	chr2:56179552-56179553	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538304748	chr2:56179566-56179567	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1677 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:56175600-56181400	Weak transcription	HUVEC	blood vessel
3	chr2:56176000-56181400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:56176400-56181000	Weak transcription	Osteobl	bone
5	chr2:56176400-56181400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:56176600-56181200	Weak transcription	Fetal Kidney	kidney
7	chr2:56177000-56181400	Weak transcription	Hela-S3	cervix
8	chr2:56178000-56185200	Weak transcription	Right Atrium	heart
9	chr2:56178800-56180600	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:56179000-56180000	Active TSS	Fetal Stomach	stomach
11	chr2:56179200-56180000	Active TSS	Colon Smooth Muscle	Colon
12	chr2:56179400-56180200	Enhancers	Ovary	ovary
13	chr2:56179600-56179800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:56180000-56188800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:56180200-56183800	Weak transcription	Ovary	ovary
16	chr2:56180600-56181400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:56180600-56181400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:56181000-56181800	Enhancers	Osteobl	bone
19	chr2:56181200-56181400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:56181200-56181600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:56181200-56182600	Enhancers	Fetal Lung	lung
22	chr2:56181400-56181600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:56181400-56181800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:56181400-56182000	Enhancers	Adipose Nuclei	Adipose
25	chr2:56181400-56182000	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr2:56181400-56182400	Active TSS	Stomach Smooth Muscle	stomach
27	chr2:56181400-56182400	Enhancers	HUVEC	blood vessel
28	chr2:56181400-56182600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:56181400-56182600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:56181400-56182600	Enhancers	Hela-S3	cervix
31	chr2:56181600-56182600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:56181600-56182600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:56181800-56182200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:56181800-56182400	Enhancers	NH-A	brain
35	chr2:56181800-56182600	Flanking Active TSS	Osteobl	bone
36	chr2:56182000-56182200	Active TSS	Adipose Nuclei	Adipose
37	chr2:56182000-56182200	Bivalent/Poised TSS	NHDF-Ad	bronchial
38	chr2:56182200-56182400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr2:56182200-56182400	Active TSS	NHDF-Ad	bronchial
40	chr2:56182200-56182600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:56182400-56182800	Enhancers	Adipose Nuclei	Adipose
42	chr2:56182400-56185200	Weak transcription	NH-A	brain
43	chr2:56182600-56182800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:56182600-56182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:56182600-56182800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:56182600-56182800	Enhancers	Osteobl	bone
47	chr2:56182600-56184000	Weak transcription	Hela-S3	cervix
48	chr2:56182600-56185000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:56182600-56185200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:56182600-56185400	Weak transcription	Fetal Lung	lung

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