Variant report

Variant	esv3506731
Chromosome Location	chr2:178416851-178482200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1217)
CpG islands
(count:1220)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1217 , 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	chr2:178436921-178437427	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:178463743-178464168	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:178444107-178444838	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:178469126-178469496	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:178458811-178458838	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:178417515-178417968	K562	blood:	n/a	n/a
7	ARID3A	chr2:178467332-178467994	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:178418582-178419491	K562	blood:	n/a	n/a
9	ATF1	chr2:178458813-178459013	K562	blood:	n/a	n/a
10	ATF1	chr2:178471438-178471654	K562	blood:	n/a	n/a
11	ATF2	chr2:178417323-178418008	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:178417345-178418247	GM12878	blood:	n/a	n/a
13	ATF2	chr2:178417323-178417996	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr2:178417594-178418070	GM12878	blood:	n/a	n/a
15	ATF3	chr2:178458727-178459047	K562	blood:	n/a	n/a
16	ATF3	chr2:178417319-178417886	K562	blood:	n/a	n/a
17	ATF3	chr2:178471424-178471742	K562	blood:	n/a	n/a
18	ATF3	chr2:178458749-178458988	K562	blood:	n/a	n/a
19	BACH1	chr2:178417501-178417865	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:178437866-178438137	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr2:178433114-178433438	GM12878	blood:	n/a	n/a
22	BCL3	chr2:178417346-178418139	A549	lung:	n/a	chr2:178417797-178417810 chr2:178417537-178417546 chr2:178417897-178417906 chr2:178417894-178417903
23	BCL3	chr2:178417224-178417899	A549	lung:	n/a	chr2:178417797-178417810 chr2:178417537-178417546
24	BCLAF1	chr2:178417166-178418342	GM12878	blood:	n/a	chr2:178417797-178417810 chr2:178417537-178417546 chr2:178417897-178417906 chr2:178417894-178417903
25	BHLHE40	chr2:178444245-178444727	HepG2	liver:	n/a	n/a
26	BHLHE40	chr2:178417369-178418271	K562	blood:	n/a	n/a
27	BHLHE40	chr2:178458680-178459190	K562	blood:	n/a	n/a
28	BHLHE40	chr2:178417346-178417943	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:178458790-178459064	HepG2	liver:	n/a	n/a
30	BRCA1	chr2:178417456-178417873	HepG2	liver:	n/a	n/a
31	BRCA1	chr2:178417771-178418074	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr2:178417365-178417645	H1-hESC	embryonic stem cell:	n/a	n/a
33	CBX3	chr2:178416623-178418494	K562	blood:	n/a	n/a
34	CBX3	chr2:178422525-178422874	K562	blood:	n/a	n/a
35	CCNT2	chr2:178417344-178417907	K562	blood:	n/a	n/a
36	CEBPB	chr2:178419125-178419392	A549	lung:	n/a	chr2:178419197-178419208 chr2:178419197-178419210
37	CEBPB	chr2:178424394-178424742	IMR90	lung:	n/a	chr2:178424568-178424577 chr2:178424568-178424577 chr2:178424568-178424577
38	CEBPB	chr2:178424427-178424704	MCF-7	breast:	n/a	chr2:178424568-178424577 chr2:178424568-178424577 chr2:178424568-178424577
39	CEBPB	chr2:178468620-178468667	Hela-S3	cervix:	n/a	chr2:178468652-178468663 chr2:178468653-178468664
40	CEBPB	chr2:178417440-178417753	K562	blood:	n/a	n/a
41	CEBPB	chr2:178453959-178454205	HepG2	liver:	n/a	chr2:178454045-178454056
42	CEBPB	chr2:178417423-178417503	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr2:178468531-178468759	A549	lung:	n/a	chr2:178468652-178468663 chr2:178468653-178468664
44	CEBPB	chr2:178467653-178467850	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:178480354-178480658	IMR90	lung:	n/a	chr2:178480497-178480508
46	CEBPB	chr2:178424514-178424602	H1-hESC	embryonic stem cell:	n/a	chr2:178424568-178424577 chr2:178424568-178424577 chr2:178424568-178424577
47	CEBPB	chr2:178476128-178476468	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:178454878-178455166	HepG2	liver:	n/a	chr2:178455013-178455024
49	CEBPB	chr2:178480354-178480632	HepG2	liver:	n/a	chr2:178480497-178480508
50	CEBPB	chr2:178468563-178468694	H1-hESC	embryonic stem cell:	n/a	chr2:178468652-178468663 chr2:178468653-178468664

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178417898-178417948	H1-hESC	embryonic stem cell:	embryo
2	chr2:178418002-178418052	GM19239	blood:	n/a
3	chr2:178421033-178421083	HMEC	breast:	n/a
4	chr2:178476124-178476174	NT2-D1	testis:	n/a
5	chr2:178466924-178466974	HRCEpiC	kidney:	n/a
6	chr2:178417556-178417606	Caco-2	colon:	n/a
7	chr2:178466924-178466974	HL-60	blood:	n/a
8	chr2:178417960-178418010	NH-A	brain:	n/a
9	chr2:178418002-178418052	HAEpiC	amniotic membrane:	n/a
10	chr2:178417690-178417740	HCT-116	colon:	n/a
11	chr2:178417556-178417606	GM19239	blood:	n/a
12	chr2:178417860-178417910	AG04449	skin:	fetal
13	chr2:178417568-178417618	HRE	kidney:	n/a
14	chr2:178417568-178417618	BJ	skin:	n/a
15	chr2:178417898-178417948	SK-N-SH_RA	brain:	n/a
16	chr2:178481033-178481083	NHBE	bronchial:	n/a
17	chr2:178417556-178417606	SAEC	small airway:	n/a
18	chr2:178417690-178417740	NHBE	bronchial:	n/a
19	chr2:178418002-178418052	H1-hESC	embryonic stem cell:	embryo
20	chr2:178417556-178417606	NH-A	brain:	n/a
21	chr2:178481033-178481083	PrEC	prostate:	n/a
22	chr2:178417898-178417948	HRE	kidney:	n/a
23	chr2:178418053-178418103	U87	brain:	n/a
24	chr2:178417898-178417948	GM12892	blood:	n/a
25	chr2:178417515-178417565	SAEC	small airway:	n/a
26	chr2:178417188-178417238	NHDF-neo	bronchial:	n/a
27	chr2:178417898-178417948	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:178418002-178418052	HMEC	breast:	n/a
29	chr2:178417690-178417740	SK-N-SH	brain:	n/a
30	chr2:178417860-178417910	HRPEpiC	eye:	n/a
31	chr2:178417473-178417523	HUVEC	blood vessel:	n/a
32	chr2:178417473-178417523	IMR90	lung:	fetal
33	chr2:178417556-178417606	Hepatocyte	liver:	n/a
34	chr2:178467658-178467708	GM12878	blood:	n/a
35	chr2:178418002-178418052	NHDF-neo	bronchial:	n/a
36	chr2:178476124-178476174	RPTEC	kidney:	n/a
37	chr2:178417960-178418010	GM06990	blood:	n/a
38	chr2:178417860-178417910	SK-N-MC	brain:	n/a
39	chr2:178417860-178417910	HMEC	breast:	n/a
40	chr2:178481033-178481083	GM06990	blood:	n/a
41	chr2:178418053-178418103	MCF-7	breast:	n/a
42	chr2:178466924-178466974	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:178467658-178467708	AG09309	skin:	n/a
44	chr2:178417188-178417238	AoSMC	blood vessel:	n/a
45	chr2:178476124-178476174	HAEpiC	amniotic membrane:	n/a
46	chr2:178417556-178417606	HIPEpiC	eye:	n/a
47	chr2:178417860-178417910	RPTEC	kidney:	n/a
48	chr2:178417556-178417606	HEEpiC	esophagus:	n/a
49	chr2:178417515-178417565	HepG2	liver:	n/a
50	chr2:178417898-178417948	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:178416436..178419070-chr2:178432303..178434878,2	K562	blood:
2	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
3	chr2:178255150..178257645-chr2:178478947..178480585,3	K562	blood:
4	chr2:178473942..178476310-chr2:178476567..178478519,2	K562	blood:
5	chr2:178442079..178444998-chr2:178454524..178456659,2	K562	blood:
6	chr2:178442079..178444998-chr2:178454524..178456659,2	K562	blood:
7	chr2:178409008..178411767-chr2:178429982..178431742,2	K562	blood:
8	chr2:178475161..178476807-chr2:178483132..178485490,2	MCF-7	breast:
9	chr2:178432546..178435257-chr2:178437767..178440394,2	K562	blood:
10	chr2:178416902..178418587-chr2:178427738..178430410,2	K562	blood:
11	chr2:178468577..178471398-chr2:178471772..178474287,2	K562	blood:
12	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
13	chr2:178473942..178476310-chr2:178476567..178478519,2	K562	blood:
14	chr2:178075873..178078560-chr2:178415979..178418935,3	K562	blood:
15	chr2:178027921..178029669-chr2:178417359..178420313,2	K562	blood:
16	chr2:178469309..178471749-chr2:178504224..178506672,2	K562	blood:
17	chr2:178157367..178160331-chr2:178462201..178464418,2	K562	blood:
18	chr2:178342501..178344223-chr2:178445139..178447094,2	K562	blood:
19	chr2:178437853..178439568-chr2:178445125..178447970,2	MCF-7	breast:
20	chr2:178457660..178459858-chr2:178464141..178466236,2	K562	blood:
21	chr2:178479040..178481545-chr2:178589525..178591056,2	K562	blood:
22	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
23	chr2:178406620..178408509-chr2:178480094..178481704,2	K562	blood:
24	chr2:178451009..178452923-chr2:178458608..178461129,2	K562	blood:
25	chr2:178454525..178456445-chr2:178573217..178575511,2	K562	blood:
26	chr2:178431853..178433434-chr2:178438526..178441127,2	MCF-7	breast:
27	chr2:178470776..178473144-chr6:142522946..142525040,2	MCF-7	breast:
28	chr2:178354274..178355113-chr2:178468858..178469375,2	K562	blood:
29	chr2:178422868..178424914-chr2:178427634..178429182,2	MCF-7	breast:
30	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
31	chr2:178415755..178417971-chr2:178438739..178440654,2	MCF-7	breast:
32	chr2:178473801..178476229-chr2:178484606..178486491,2	K562	blood:
33	chr2:178440922..178442592-chr2:178443833..178445640,2	K562	blood:
34	chr2:178354906..178356804-chr2:178460275..178461925,2	K562	blood:
35	chr2:178075873..178078560-chr2:178417023..178418935,2	K562	blood:
36	chr2:178451009..178452923-chr2:178458608..178461129,2	K562	blood:
37	chr2:178416598..178420239-chr2:178421420..178425866,9	K562	blood:
38	chr2:178480859..178483355-chr2:178499342..178501117,2	K562	blood:
39	chr2:178417695..178421025-chr2:178421420..178424293,4	K562	blood:
40	chr2:178403944..178405699-chr2:178418524..178421298,2	K562	blood:
41	chr2:178431853..178433434-chr2:178438526..178441127,2	MCF-7	breast:
42	chr2:178416976..178419340-chr2:178431618..178434566,4	K562	blood:
43	chr2:178479419..178481320-chr2:178491408..178493665,2	K562	blood:
44	chr2:178417620..178419263-chr2:178422430..178424584,2	MCF-7	breast:
45	chr2:178422868..178424914-chr2:178427634..178429182,2	MCF-7	breast:
46	chr2:178432546..178435257-chr2:178437767..178440394,2	K562	blood:
47	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:
48	chr2:178468577..178471398-chr2:178471772..178474287,2	K562	blood:
49	chr2:178437853..178439568-chr2:178445125..178447970,2	MCF-7	breast:
50	chr2:178353905..178355272-chr2:178468726..178469827,6	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
ENSG00000018510	chromatin interactions
ENSG00000197557	chromatin interactions
ENSG00000237655	chromatin interactions
ENSG00000116044	chromatin interactions
ENSG00000236501	chromatin interactions
ENSG00000170144	chromatin interactions
ENSG00000229337	chromatin interactions
ENSG00000263721	chromatin interactions
ENSG00000213963	chromatin interactions
ENSG00000196659	chromatin interactions

Extended variants
information (count: 2488 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2488 , 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	rs368765664	chr2:178416872-178416873	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs200295086	chr2:178416884-178416885	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs201548973	chr2:178416888-178416889	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs374267331	chr2:178416931-178416932	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs368472568	chr2:178416937-178416938	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs199684087	chr2:178416947-178416948	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs201452910	chr2:178416950-178416951	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs533094643	chr2:178416968-178416969	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs191681344	chr2:178417010-178417011	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs369346248	chr2:178417020-178417021	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs371707553	chr2:178417022-178417023	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs375024565	chr2:178417027-178417028	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs200660145	chr2:178417039-178417040	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs546516591	chr2:178417058-178417059	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs202166789	chr2:178417061-178417062	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs61743720	chr2:178417062-178417063	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs544286308	chr2:178417099-178417100	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs560979378	chr2:178417110-178417111	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs144172590	chr2:178417136-178417137	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs11694988	chr2:178417142-178417143	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs566690292	chr2:178417157-178417158	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs201956227	chr2:178417193-178417194	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs374170631	chr2:178417195-178417196	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
2	chr2:178412000-178417000	Enhancers	HUVEC	blood vessel
3	chr2:178415000-178417000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:178415400-178417000	Enhancers	Fetal Heart	heart
5	chr2:178416200-178418400	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:178416600-178417000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:178416600-178417000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:178416600-178417000	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr2:178416600-178417000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:178416600-178417000	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr2:178416600-178417000	Enhancers	Placenta	Placenta
12	chr2:178416600-178417000	Enhancers	Fetal Thymus	thymus
13	chr2:178416600-178417000	Enhancers	Lung	lung
14	chr2:178416600-178417000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:178416600-178417000	Flanking Active TSS	Stomach Mucosa	stomach
16	chr2:178416600-178417000	Enhancers	Spleen	Spleen
17	chr2:178416600-178417000	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:178416600-178417000	Flanking Active TSS	Osteobl	bone
19	chr2:178416600-178417200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:178416600-178417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:178416600-178417200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:178416600-178417200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr2:178416600-178417200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr2:178416600-178417200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr2:178416600-178417200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr2:178416600-178417200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:178416600-178417200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr2:178416600-178417200	Flanking Active TSS	HepG2	liver
29	chr2:178416600-178417400	Flanking Active TSS	Dnd41	blood
30	chr2:178416600-178418000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:178416600-178418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:178416600-178418400	Active TSS	Fetal Lung	lung
33	chr2:178416600-178418400	Active TSS	A549	lung
34	chr2:178416600-178418600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:178416600-178418600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:178416600-178418600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr2:178416600-178418600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:178416600-178418600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr2:178416600-178418600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:178416600-178418600	Active TSS	HSMM	muscle
41	chr2:178416800-178417000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:178416800-178417000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:178416800-178417000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:178416800-178417000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr2:178416800-178417000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:178416800-178417000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:178416800-178417000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr2:178416800-178417000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:178416800-178417000	Enhancers	Primary B cells from cord blood	blood
50	chr2:178416800-178417000	Enhancers	Primary B cells from peripheral blood	blood

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