Variant report

Variant	esv3520313
Chromosome Location	chr2:178417102-178482200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1207)
CpG islands
(count:1221)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1207 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:178467332-178467994	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:178463743-178464168	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:178436921-178437427	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:178458811-178458838	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:178469126-178469496	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:178417515-178417968	K562	blood:	n/a	n/a
7	ARID3A	chr2:178444107-178444838	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:178418582-178419491	K562	blood:	n/a	n/a
9	ATF1	chr2:178471438-178471654	K562	blood:	n/a	n/a
10	ATF1	chr2:178458813-178459013	K562	blood:	n/a	n/a
11	ATF2	chr2:178417323-178417996	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:178417323-178418008	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:178417345-178418247	GM12878	blood:	n/a	n/a
14	ATF2	chr2:178417594-178418070	GM12878	blood:	n/a	n/a
15	ATF3	chr2:178471424-178471742	K562	blood:	n/a	n/a
16	ATF3	chr2:178458749-178458988	K562	blood:	n/a	n/a
17	ATF3	chr2:178417319-178417886	K562	blood:	n/a	n/a
18	ATF3	chr2:178458727-178459047	K562	blood:	n/a	n/a
19	BACH1	chr2:178437866-178438137	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:178417501-178417865	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr2:178433114-178433438	GM12878	blood:	n/a	n/a
22	BCL3	chr2:178417224-178417899	A549	lung:	n/a	chr2:178417797-178417810 chr2:178417537-178417546
23	BCL3	chr2:178417346-178418139	A549	lung:	n/a	chr2:178417797-178417810 chr2:178417537-178417546 chr2:178417897-178417906 chr2:178417894-178417903
24	BCLAF1	chr2:178417166-178418342	GM12878	blood:	n/a	chr2:178417797-178417810 chr2:178417537-178417546 chr2:178417897-178417906 chr2:178417894-178417903
25	BHLHE40	chr2:178458680-178459190	K562	blood:	n/a	n/a
26	BHLHE40	chr2:178417369-178418271	K562	blood:	n/a	n/a
27	BHLHE40	chr2:178417346-178417943	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:178444245-178444727	HepG2	liver:	n/a	n/a
29	BHLHE40	chr2:178458790-178459064	HepG2	liver:	n/a	n/a
30	BRCA1	chr2:178417771-178418074	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr2:178417365-178417645	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr2:178417456-178417873	HepG2	liver:	n/a	n/a
33	CBX3	chr2:178422525-178422874	K562	blood:	n/a	n/a
34	CBX3	chr2:178416623-178418494	K562	blood:	n/a	n/a
35	CCNT2	chr2:178417344-178417907	K562	blood:	n/a	n/a
36	CEBPB	chr2:178475559-178475858	HepG2	liver:	n/a	chr2:178475706-178475717
37	CEBPB	chr2:178457146-178457465	HepG2	liver:	n/a	chr2:178457301-178457312 chr2:178457300-178457313
38	CEBPB	chr2:178424393-178424750	A549	lung:	n/a	chr2:178424568-178424577 chr2:178424568-178424577 chr2:178424568-178424577
39	CEBPB	chr2:178419011-178419507	K562	blood:	n/a	chr2:178419197-178419208 chr2:178419197-178419210
40	CEBPB	chr2:178449360-178449376	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:178468507-178469260	HepG2	liver:	n/a	chr2:178468652-178468663 chr2:178468653-178468664
42	CEBPB	chr2:178480354-178480658	IMR90	lung:	n/a	chr2:178480497-178480508
43	CEBPB	chr2:178417381-178417908	K562	blood:	n/a	n/a
44	CEBPB	chr2:178419059-178419480	K562	blood:	n/a	chr2:178419197-178419208 chr2:178419197-178419210
45	CEBPB	chr2:178468531-178468759	A549	lung:	n/a	chr2:178468652-178468663 chr2:178468653-178468664
46	CEBPB	chr2:178457672-178457782	HepG2	liver:	n/a	n/a
47	CEBPB	chr2:178424465-178424629	K562	blood:	n/a	chr2:178424568-178424577 chr2:178424568-178424577 chr2:178424568-178424577
48	CEBPB	chr2:178480354-178480632	HepG2	liver:	n/a	chr2:178480497-178480508
49	CEBPB	chr2:178419100-178419444	IMR90	lung:	n/a	chr2:178419197-178419208 chr2:178419197-178419210
50	CEBPB	chr2:178475833-178475835	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178476124-178476174	HL-60	blood:	n/a
2	chr2:178476124-178476174	HL-60	blood:	n/a
3	chr2:178418053-178418103	SK-N-SH_RA	brain:	n/a
4	chr2:178481033-178481083	CMK	blood:	n/a
5	chr2:178417605-178417655	NHBE	bronchial:	n/a
6	chr2:178417898-178417948	Hela-S3	cervix:	n/a
7	chr2:178418002-178418052	ovcar-3	ovarian:	n/a
8	chr2:178417545-178417595	GM12878	blood:	n/a
9	chr2:178418002-178418052	LNCaP	prostate:	n/a
10	chr2:178417568-178417618	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:178417539-178417589	HRCEpiC	kidney:	n/a
12	chr2:178417605-178417655	AG09319	gingival:	n/a
13	chr2:178417539-178417589	SAEC	small airway:	n/a
14	chr2:178466924-178466974	HL-60	blood:	n/a
15	chr2:178417556-178417606	SK-N-SH	brain:	n/a
16	chr2:178417188-178417238	Hepatocyte	liver:	n/a
17	chr2:178417473-178417523	NHDF-neo	bronchial:	n/a
18	chr2:178417539-178417589	MCF10A-Er-Src	breast:	n/a
19	chr2:178417860-178417910	HUVEC	blood vessel:	n/a
20	chr2:178417568-178417618	SKMC	muscle:	n/a
21	chr2:178417960-178418010	ProgFib	skin:	n/a
22	chr2:178481527-178481577	H1-hESC	embryonic stem cell:	embryo
23	chr2:178417539-178417589	LNCaP	prostate:	n/a
24	chr2:178467658-178467708	SKMC	muscle:	n/a
25	chr2:178417545-178417595	HCM	heart:	n/a
26	chr2:178481527-178481577	GM12891	blood:	n/a
27	chr2:178417539-178417589	NHDF-neo	bronchial:	n/a
28	chr2:178417898-178417948	HL-60	blood:	n/a
29	chr2:178481527-178481577	HCF	heart:	n/a
30	chr2:178417860-178417910	GM12878	blood:	n/a
31	chr2:178417860-178417910	HCT-116	colon:	n/a
32	chr2:178417605-178417655	U87	brain:	n/a
33	chr2:178417556-178417606	HepG2	liver:	n/a
34	chr2:178417545-178417595	NH-A	brain:	n/a
35	chr2:178417960-178418010	NT2-D1	testis:	n/a
36	chr2:178481527-178481577	CMK	blood:	n/a
37	chr2:178417556-178417606	AoSMC	blood vessel:	n/a
38	chr2:178417515-178417565	U87	brain:	n/a
39	chr2:178417960-178418010	PANC-1	pancreas:	n/a
40	chr2:178417960-178418010	T-47D	breast:	n/a
41	chr2:178417473-178417523	GM12892	blood:	n/a
42	chr2:178417960-178418010	U87	brain:	n/a
43	chr2:178467658-178467708	GM19239	blood:	n/a
44	chr2:178418053-178418103	SK-N-MC	brain:	n/a
45	chr2:178476124-178476174	RPTEC	kidney:	n/a
46	chr2:178417690-178417740	PANC-1	pancreas:	n/a
47	chr2:178417188-178417238	RPTEC	kidney:	n/a
48	chr2:178417568-178417618	HRE	kidney:	n/a
49	chr2:178417568-178417618	HCM	heart:	n/a
50	chr2:178417515-178417565	RPTEC	kidney:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:178431853..178433434-chr2:178438526..178441127,2	MCF-7	breast:
2	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
3	chr2:178075873..178078560-chr2:178417023..178418935,2	K562	blood:
4	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
5	chr2:178353905..178355272-chr2:178468726..178469827,6	MCF-7	breast:
6	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:
7	chr2:178416598..178420239-chr2:178421420..178425866,9	K562	blood:
8	chr2:178255832..178259686-chr2:178477259..178480585,3	K562	blood:
9	chr2:178432546..178435257-chr2:178437767..178440394,2	K562	blood:
10	chr2:178473942..178476310-chr2:178476567..178478519,2	K562	blood:
11	chr2:178440922..178442592-chr2:178443833..178445640,2	K562	blood:
12	chr2:178475161..178476807-chr2:178483132..178485490,2	MCF-7	breast:
13	chr2:178416902..178418587-chr2:178427738..178430410,2	K562	blood:
14	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
15	chr2:178460962..178464308-chr2:178467800..178472816,6	K562	blood:
16	chr2:178422868..178424914-chr2:178427634..178429182,2	MCF-7	breast:
17	chr2:178354906..178356804-chr2:178460275..178461925,2	K562	blood:
18	chr2:178440922..178442592-chr2:178443833..178445640,2	K562	blood:
19	chr2:178451009..178452923-chr2:178458608..178461129,2	K562	blood:
20	chr2:178409008..178411767-chr2:178429982..178431742,2	K562	blood:
21	chr2:178457660..178459858-chr2:178464141..178466236,2	K562	blood:
22	chr2:178354274..178355113-chr2:178468858..178469375,2	K562	blood:
23	chr2:178075873..178078560-chr2:178415979..178418935,3	K562	blood:
24	chr2:178422868..178424914-chr2:178427634..178429182,2	MCF-7	breast:
25	chr2:178157367..178160331-chr2:178462201..178464418,2	K562	blood:
26	chr2:178255150..178257645-chr2:178478947..178480585,3	K562	blood:
27	chr2:178415755..178417971-chr2:178438739..178440654,2	MCF-7	breast:
28	chr2:178473801..178476229-chr2:178484606..178486491,2	K562	blood:
29	chr2:178442079..178444998-chr2:178454524..178456659,2	K562	blood:
30	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
31	chr2:178431853..178433434-chr2:178438526..178441127,2	MCF-7	breast:
32	chr2:178417620..178419263-chr2:178422430..178424584,2	MCF-7	breast:
33	chr2:178451009..178452923-chr2:178458608..178461129,2	K562	blood:
34	chr2:178432546..178435257-chr2:178437767..178440394,2	K562	blood:
35	chr2:178479419..178481320-chr2:178491408..178493665,2	K562	blood:
36	chr2:178469309..178471749-chr2:178504224..178506672,2	K562	blood:
37	chr2:178468577..178471398-chr2:178471772..178474287,2	K562	blood:
38	chr2:178406620..178408509-chr2:178480094..178481704,2	K562	blood:
39	chr2:178417775..178419456-chr2:178465750..178469072,3	K562	blood:
40	chr2:178454525..178456445-chr2:178573217..178575511,2	K562	blood:
41	chr2:178310253..178311954-chr2:178445116..178447821,2	K562	blood:
42	chr2:178437853..178439568-chr2:178445125..178447970,2	MCF-7	breast:
43	chr2:178416436..178419070-chr2:178432303..178434878,2	K562	blood:
44	chr2:178457660..178459858-chr2:178464141..178466236,2	K562	blood:
45	chr2:178027921..178029669-chr2:178417359..178420313,2	K562	blood:
46	chr2:178468577..178471398-chr2:178471772..178474287,2	K562	blood:
47	chr2:178473942..178476310-chr2:178476567..178478519,2	K562	blood:
48	chr2:178417695..178421025-chr2:178421420..178424293,4	K562	blood:
49	chr2:178416976..178419340-chr2:178431618..178434566,4	K562	blood:
50	chr2:178470776..178473144-chr6:142522946..142525040,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TTC30A	hsa-miR-186-5p	chr2:178480839-178480861
2	TTC30A	hsa-miR-186-5p	chr2:178480510-178480531

Variant related genes	Relation type
TTC30B	TF binding region
ENSG00000237655	TF binding region
TTC30B	CpG island
ENSG00000237655	CpG island
ENSG00000236501	chromatin interactions
ENSG00000237655	chromatin interactions
ENSG00000170144	chromatin interactions
ENSG00000116044	chromatin interactions
ENSG00000197557	chromatin interactions
ENSG00000229337	chromatin interactions
ENSG00000263721	chromatin interactions
ENSG00000018510	chromatin interactions
ENSG00000213963	chromatin interactions
ENSG00000196659	chromatin interactions

Extended variants
information (count: 2471 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2471 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560979378	chr2:178417110-178417111	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs144172590	chr2:178417136-178417137	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs11694988	chr2:178417142-178417143	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs566690292	chr2:178417157-178417158	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs201956227	chr2:178417193-178417194	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs374170631	chr2:178417195-178417196	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs200432024	chr2:178417220-178417221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs112092751	chr2:178417224-178417225	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs11695035	chr2:178417225-178417226	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs201381168	chr2:178417231-178417232	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs111605599	chr2:178417248-178417249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs374449103	chr2:178417250-178417251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs554617238	chr2:178417306-178417307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs568195089	chr2:178417324-178417325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs377081789	chr2:178417326-178417327	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs534336485	chr2:178417346-178417347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs554063091	chr2:178417375-178417376	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs370236364	chr2:178417378-178417379	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs577416348	chr2:178417380-178417381	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs199567064	chr2:178417385-178417386	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs374122573	chr2:178417403-178417404	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs556908055	chr2:178417441-178417442	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs575279731	chr2:178417443-178417444	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs544246111	chr2:178417450-178417451	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs200346886	chr2:178417458-178417459	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs370356776	chr2:178417462-178417463	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs374391018	chr2:178417468-178417469	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs529735395	chr2:178417486-178417487	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs540360946	chr2:178417492-178417493	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs192648738	chr2:178417497-178417498	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs113625626	chr2:178417509-178417510	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs372374225	chr2:178417532-178417533	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs141017118	chr2:178417557-178417558	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs531530680	chr2:178417582-178417583	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs548163734	chr2:178417583-178417584	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs116634324	chr2:178417641-178417642	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs79593641	chr2:178417652-178417653	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs186779862	chr2:178417672-178417673	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs570917509	chr2:178417738-178417739	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs76196625	chr2:178417740-178417741	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs78268275	chr2:178417747-178417748	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs576786417	chr2:178417749-178417750	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs142147081	chr2:178417784-178417785	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs191439042	chr2:178417794-178417795	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs574419895	chr2:178417803-178417804	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs539901062	chr2:178417814-178417815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs560202385	chr2:178417833-178417834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs13014417	chr2:178417835-178417836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs78152286	chr2:178417854-178417855	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs12988366	chr2:178417945-178417946	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178416200-178418400	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:178416600-178417200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:178416600-178417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:178416600-178417200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:178416600-178417200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr2:178416600-178417200	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr2:178416600-178417200	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr2:178416600-178417200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr2:178416600-178417200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:178416600-178417200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr2:178416600-178417200	Flanking Active TSS	HepG2	liver
12	chr2:178416600-178417400	Flanking Active TSS	Dnd41	blood
13	chr2:178416600-178418000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr2:178416600-178418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:178416600-178418400	Active TSS	Fetal Lung	lung
16	chr2:178416600-178418400	Active TSS	A549	lung
17	chr2:178416600-178418600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:178416600-178418600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:178416600-178418600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:178416600-178418600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:178416600-178418600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:178416600-178418600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:178416600-178418600	Active TSS	HSMM	muscle
24	chr2:178416800-178417200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:178416800-178417200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:178416800-178417200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr2:178416800-178417200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr2:178416800-178417200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr2:178416800-178417200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:178416800-178417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:178416800-178417200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:178416800-178417200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:178416800-178417200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:178416800-178417200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:178416800-178417200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:178416800-178417200	Flanking Active TSS	Liver	Liver
37	chr2:178416800-178417200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr2:178416800-178417200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr2:178416800-178417200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:178416800-178417200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr2:178416800-178417200	Flanking Active TSS	Left Ventricle	heart
42	chr2:178416800-178417200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:178416800-178417200	Flanking Active TSS	Right Atrium	heart
44	chr2:178416800-178417200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:178416800-178417200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:178416800-178417200	Enhancers	Small Intestine	intestine
47	chr2:178416800-178417200	Flanking Active TSS	Hela-S3	cervix
48	chr2:178416800-178417200	Flanking Active TSS	HMEC	breast
49	chr2:178416800-178417200	Flanking Active TSS	K562	blood
50	chr2:178416800-178417200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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