Variant report

Variant	nsv535959
Chromosome Location	chr2:145228576-145285400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1886)
CpG islands
(count:3116)
Chromatin interactive
region (count:62)
LncRNA
region (count:84)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145268402-145268588	K562	blood:	n/a	n/a
2	ARID3A	chr2:145265837-145265862	K562	blood:	n/a	n/a
3	ARID3A	chr2:145277565-145278860	K562	blood:	n/a	chr2:145277574-145277589 chr2:145278760-145278776
4	ARID3A	chr2:145237553-145237708	K562	blood:	n/a	n/a
5	ARID3A	chr2:145247814-145247823	K562	blood:	n/a	n/a
6	ARID3A	chr2:145271839-145272052	K562	blood:	n/a	n/a
7	ARID3A	chr2:145263029-145263629	K562	blood:	n/a	n/a
8	ARID3A	chr2:145279948-145280025	K562	blood:	n/a	n/a
9	ARID3A	chr2:145280652-145281300	K562	blood:	n/a	n/a
10	ATF1	chr2:145263151-145263495	K562	blood:	n/a	n/a
11	ATF1	chr2:145277550-145277982	K562	blood:	n/a	n/a
12	ATF2	chr2:145265928-145266254	GM12878	blood:	n/a	n/a
13	ATF2	chr2:145276609-145277164	GM12878	blood:	n/a	n/a
14	ATF2	chr2:145228881-145229305	GM12878	blood:	n/a	n/a
15	ATF2	chr2:145268128-145268468	GM12878	blood:	n/a	n/a
16	ATF2	chr2:145268119-145268560	GM12878	blood:	n/a	n/a
17	ATF2	chr2:145228850-145229383	GM12878	blood:	n/a	n/a
18	ATF2	chr2:145276643-145277088	GM12878	blood:	n/a	n/a
19	ATF2	chr2:145268054-145268660	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr2:145228839-145229224	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr2:145267970-145268536	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr2:145247603-145248035	GM12878	blood:	n/a	n/a
23	ATF3	chr2:145275127-145275426	K562	blood:	n/a	chr2:145275129-145275138
24	BACH1	chr2:145281492-145281694	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr2:145265805-145266086	K562	blood:	n/a	n/a
26	BACH1	chr2:145274010-145274052	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr2:145276723-145277017	GM12878	blood:	n/a	n/a
28	BATF	chr2:145275118-145275471	GM12878	blood:	n/a	n/a
29	BATF	chr2:145268125-145268565	GM12878	blood:	n/a	n/a
30	BATF	chr2:145248727-145248920	GM12878	blood:	n/a	n/a
31	BATF	chr2:145248657-145249004	GM12878	blood:	n/a	n/a
32	BATF	chr2:145247645-145247885	GM12878	blood:	n/a	n/a
33	BATF	chr2:145275097-145275400	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:145228934-145229247	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCLAF1	chr2:145275126-145275463	GM12878	blood:	n/a	chr2:145275136-145275149
36	BCLAF1	chr2:145276577-145277137	GM12878	blood:	n/a	chr2:145276852-145276861
37	BCLAF1	chr2:145228746-145229361	GM12878	blood:	n/a	n/a
38	BCLAF1	chr2:145277319-145277952	K562	blood:	n/a	n/a
39	BHLHE40	chr2:145266736-145266936	K562	blood:	n/a	n/a
40	BHLHE40	chr2:145281146-145281518	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:145273210-145273348	K562	blood:	n/a	n/a
42	BHLHE40	chr2:145277653-145278022	GM12878	blood:	n/a	n/a
43	BHLHE40	chr2:145277677-145277961	HepG2	liver:	n/a	n/a
44	BHLHE40	chr2:145277366-145278353	K562	blood:	n/a	n/a
45	BHLHE40	chr2:145271484-145271542	K562	blood:	n/a	n/a
46	BHLHE40	chr2:145277663-145277997	A549	lung:	n/a	n/a
47	BHLHE40	chr2:145274940-145275350	GM12878	blood:	n/a	n/a
48	BHLHE40	chr2:145276170-145276611	K562	blood:	n/a	n/a
49	BHLHE40	chr2:145228980-145229324	GM12878	blood:	n/a	n/a
50	BHLHE40	chr2:145267159-145267517	K562	blood:	n/a	n/a

(count:3116 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145282262-145282312	HAEpiC	amniotic membrane:	n/a
2	chr2:145281519-145281569	SK-N-SH_RA	brain:	n/a
3	chr2:145277734-145277784	HRPEpiC	eye:	n/a
4	chr2:145281547-145281597	NH-A	brain:	n/a
5	chr2:145260010-145260060	SK-N-SH	brain:	n/a
6	chr2:145282262-145282312	HAEpiC	amniotic membrane:	n/a
7	chr2:145281519-145281569	SK-N-SH_RA	brain:	n/a
8	chr2:145277734-145277784	HRPEpiC	eye:	n/a
9	chr2:145281547-145281597	NH-A	brain:	n/a
10	chr2:145260010-145260060	SK-N-SH	brain:	n/a
11	chr2:145274125-145274175	ECC-1	luminal epithelium:	n/a
12	chr2:145273345-145273395	HCPEpiC	choroid plexus:	n/a
13	chr2:145230271-145230321	SK-N-MC	brain:	n/a
14	chr2:145274441-145274491	AG04450	lung:	fetal
15	chr2:145278564-145278614	NHDF-neo	bronchial:	n/a
16	chr2:145274441-145274491	PrEC	prostate:	n/a
17	chr2:145274201-145274251	NHBE	bronchial:	n/a
18	chr2:145247292-145247342	SK-N-MC	brain:	n/a
19	chr2:145273776-145273826	HEEpiC	esophagus:	n/a
20	chr2:145277646-145277696	HCT-116	colon:	n/a
21	chr2:145230271-145230321	NHDF-neo	bronchial:	n/a
22	chr2:145281942-145281992	HRPEpiC	eye:	n/a
23	chr2:145273297-145273347	HMEC	breast:	n/a
24	chr2:145278808-145278858	ECC-1	luminal epithelium:	n/a
25	chr2:145275197-145275247	HEEpiC	esophagus:	n/a
26	chr2:145273297-145273347	HCF	heart:	n/a
27	chr2:145236966-145237016	BE2_C	brain:	n/a
28	chr2:145282054-145282104	HCF	heart:	n/a
29	chr2:145275197-145275247	HL-60	blood:	n/a
30	chr2:145275441-145275491	PrEC	prostate:	n/a
31	chr2:145236966-145237016	Hepatocyte	liver:	n/a
32	chr2:145277843-145277893	T-47D	breast:	n/a
33	chr2:145237379-145237429	HRPEpiC	eye:	n/a
34	chr2:145275322-145275372	SK-N-MC	brain:	n/a
35	chr2:145284259-145284309	HEK293	kidney:	embryo
36	chr2:145248607-145248657	A549	lung:	n/a
37	chr2:145248570-145248620	HIPEpiC	eye:	n/a
38	chr2:145230271-145230321	BJ	skin:	n/a
39	chr2:145268533-145268583	HepG2	liver:	n/a
40	chr2:145274125-145274175	SAEC	small airway:	n/a
41	chr2:145278485-145278535	ProgFib	skin:	n/a
42	chr2:145277659-145277709	H1-hESC	embryonic stem cell:	embryo
43	chr2:145278113-145278163	MCF-7	breast:	n/a
44	chr2:145254474-145254524	IMR90	lung:	fetal
45	chr2:145273297-145273347	GM19239	blood:	n/a
46	chr2:145277741-145277791	PANC-1	pancreas:	n/a
47	chr2:145281547-145281597	U87	brain:	n/a
48	chr2:145275197-145275247	PANC-1	pancreas:	n/a
49	chr2:145273345-145273395	GM12892	blood:	n/a
50	chr2:145277852-145277902	GM12891	blood:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:145284448..145287063-chr2:145337882..145340478,2	K562	blood:
2	chr2:145266275..145269110-chr2:145503905..145505741,2	K562	blood:
3	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:
4	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
5	chr18:33161363..33162220-chr2:145274089..145275089,2	MCF-7	breast:
6	chr2:145106386..145108474-chr2:145258308..145261257,2	K562	blood:
7	chr2:145279653..145282025-chr2:145468587..145470858,2	K562	blood:
8	chr2:145282322..145285312-chr2:145285327..145287295,2	K562	blood:
9	chr2:145232088..145234387-chr2:145250411..145252365,2	K562	blood:
10	chr2:145257687..145260314-chr2:145338650..145340893,3	K562	blood:
11	chr2:145282963..145285154-chr2:145751784..145754718,2	K562	blood:
12	chr2:145238267..145240024-chr2:145275381..145277452,2	K562	blood:
13	chr2:145271135..145273853-chr2:145275375..145278239,3	MCF-7	breast:
14	chr2:145264141..145265822-chr2:145439958..145442290,2	K562	blood:
15	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:
16	chr2:145257019..145259314-chr2:145313240..145315938,2	K562	blood:
17	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
18	chr2:145239241..145241056-chr2:145251134..145254110,2	K562	blood:
19	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:
20	chr2:145228821..145231292-chr2:145273638..145277722,4	K562	blood:
21	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
22	chr2:145280312..145282539-chr2:145284544..145287091,2	K562	blood:
23	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:
24	chr2:145265194..145267869-chr2:145368786..145370299,2	K562	blood:
25	chr2:145266442..145269166-chr2:145303925..145306331,2	K562	blood:
26	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:
27	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:
28	chr2:145269791..145271356-chr2:145420869..145422777,2	K562	blood:
29	chr2:145258786..145260794-chr2:145337929..145340893,3	K562	blood:
30	chr2:145232088..145234387-chr2:145250411..145252365,2	K562	blood:
31	chr2:145269603..145271961-chr2:145446433..145449274,2	K562	blood:
32	chr2:145282322..145285312-chr2:145285327..145287295,2	K562	blood:
33	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
34	chr2:144757869..144760619-chr2:145264993..145266668,2	K562	blood:
35	chr2:145194561..145196178-chr2:145264637..145266543,2	K562	blood:
36	chr2:145269944..145272848-chr2:145333813..145335394,2	K562	blood:
37	chr2:145263149..145265931-chr2:145331209..145333597,2	K562	blood:
38	chr2:145225231..145227584-chr2:145231808..145234139,2	K562	blood:
39	chr2:145268963..145271644-chr2:145434997..145436686,2	K562	blood:
40	chr2:145232893..145234881-chr2:145235361..145237098,2	K562	blood:
41	chr2:145245907..145248266-chr2:145339195..145340715,2	K562	blood:
42	chr2:145239241..145241056-chr2:145251134..145254110,2	K562	blood:
43	chr2:145282560..145284808-chr2:145288273..145291283,3	K562	blood:
44	chr2:145282188..145284775-chr2:145288254..145292611,5	K562	blood:
45	chr2:145197489..145199273-chr2:145272443..145274142,2	K562	blood:
46	chr2:145250390..145252682-chr2:145338354..145340585,2	K562	blood:
47	chr2:145284050..145286026-chr2:145287841..145289379,2	MCF-7	breast:
48	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
49	chr2:145280446..145282014-chr2:145350666..145353467,2	K562	blood:
50	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:

(count:84 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZEB2-1	chr2:145277506-145277958	NONHSAT074767
2	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
3	lnc-ARHGAP15-3	chr2:145277782-145277852	NONHSAT074776
4	lnc-ARHGAP15-3	chr2:145278321-145278466	ENSG00000238057.2
5	lnc-ZEB2-1	chr2:145281131-145281395	XLOC_002344
6	lnc-ARHGAP15-3	chr2:145277782-145277984	NONHSAT074775
7	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074763
8	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
9	lnc-ARHGAP15-3	chr2:145277078-145277677	ENSG00000238057.4
10	lnc-ARHGAP15-3	chr2:145277782-145278136	NONHSAT074778
11	lnc-ARHGAP15-3	chr2:145277782-145277950	ENSG00000238057.4
12	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074775
13	lnc-ARHGAP15-3	chr2:145278013-145278683	NONHSAT074775
14	lnc-ZEB2-1	chr2:145274918-145274986	NONHSAT074771
15	lnc-ZEB2-1	chr2:145274918-145274986	NONHSAT074770
16	lnc-ARHGAP15-3	chr2:145276916-145277042	ENSG00000238057.4
17	lnc-ZEB2-1	chr2:145281954-145282074	NONHSAT074784
18	lnc-ARHGAP15-3	chr2:145277403-145277677	ENSG00000238057.4
19	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074778
20	lnc-ZEB2-1	chr2:145281131-145281395	XLOC_002344
21	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.2
22	lnc-ARHGAP15-3	chr2:145277274-145277677	NONHSAT074779
23	lnc-GTDC1-12	chr2:145251832-145254445	NONHSAT074765
24	lnc-ZEB2-1	chr2:145262008-145262200	NONHSAT074766
25	lnc-ZEB2-1	chr2:145275254-145275572	NONHSAT074766
26	lnc-ARHGAP15-3	chr2:145278321-145278465	NR_040248
27	lnc-ZEB2-1	chr2:145275226-145275322	NONHSAT074768
28	lnc-ARHGAP15-3	chr2:145276024-145276142	ENSG00000238057.4
29	lnc-ARHGAP15-3	chr2:145275770-145276142	ENSG00000238057.4
30	lnc-ARHGAP15-3	chr2:145277526-145277677	NR_040248
31	lnc-ARHGAP15-3	chr2:145277403-145277934	ENSG00000238057.4
32	lnc-ARHGAP15-3	chr2:145277782-145277852	ENSG00000238057.4
33	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
34	lnc-ARHGAP15-3	chr2:145277782-145279058	ENSG00000238057.4
35	lnc-ZEB2-1	chr2:145282179-145282207	XLOC_002344
36	lnc-ARHGAP15-3	chr2:145275767-145276142	ENSG00000238057.4
37	lnc-ARHGAP15-3	chr2:145278173-145278248	ENSG00000238057.4
38	lnc-ZEB2-1	chr2:145281222-145281395	NONHSAT074784
39	lnc-ARHGAP15-3	chr2:145277782-145277852	NR_040248
40	lnc-ZEB2-1	chr2:145268952-145271364	NONHSAT074767
41	lnc-ZEB2-1	chr2:145281135-145281395	XLOC_002344
42	lnc-ZEB2-1	chr2:145281954-145281983	XLOC_002344
43	lnc-ARHGAP15-3	chr2:145275664-145276142	ENSG00000238057.4
44	lnc-ARHGAP15-3	chr2:145278321-145279044	ENSG00000238057.4
45	lnc-ARHGAP15-3	chr2:145277782-145278011	NONHSAT074779
46	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074776
47	lnc-ZEB2-1	chr2:145275179-145275216	NONHSAT074769
48	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074769
49	lnc-ARHGAP15-3	chr2:145276319-145276428	ENSG00000238057.4
50	lnc-ARHGAP15-3	chr2:145277782-145277940	ENSG00000238057.4

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-200a-3p	chr2:145270071-145270094
2	ZEB2	hsa-miR-181a-5p	chr2:145270887-145270909
3	ZEB2	hsa-miR-141-3p	chr2:145270071-145270097

Variant related genes	Relation type
ZEB2	TF binding region
ZEB2-AS1	TF binding region
ZEB2	CpG island
ZEB2-AS1	CpG island
ENSG00000169554	chromatin interactions
ENSG00000238057	chromatin interactions
ENSG00000213410	chromatin interactions
ENSG00000234940	chromatin interactions
ENSG00000141429	chromatin interactions
ENSG00000121964	chromatin interactions
PLS3	miRNA target sites
ZEB2	miRNA target sites
USP42	miRNA target sites
DYRK1B	miRNA target sites

Extended variants
information (count: 1761 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1761 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140355944	chr2:145228589-145228590	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116456524	chr2:145228596-145228597	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528976079	chr2:145228671-145228672	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6430059	chr2:145228701-145228702	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs559491259	chr2:145228748-145228749	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533534609	chr2:145228767-145228768	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552017465	chr2:145228798-145228799	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573014257	chr2:145228874-145228875	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570313035	chr2:145228932-145228933	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544715588	chr2:145228992-145228993	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549356184	chr2:145229058-145229059	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567594178	chr2:145229062-145229063	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562795165	chr2:145229091-145229092	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112623436	chr2:145229092-145229093	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534700911	chr2:145229098-145229099	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200795574	chr2:145229104-145229105	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs180846160	chr2:145229115-145229116	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184950019	chr2:145229124-145229125	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150352865	chr2:145229168-145229169	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555573279	chr2:145229274-145229275	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539232606	chr2:145229289-145229290	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138017730	chr2:145229320-145229321	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189665638	chr2:145229333-145229334	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543390612	chr2:145229352-145229353	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112035014	chr2:145229359-145229360	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77650375	chr2:145229369-145229370	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181750894	chr2:145229425-145229426	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573513642	chr2:145229456-145229457	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs143926614	chr2:145229472-145229473	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559458591	chr2:145229492-145229493	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs377609817	chr2:145229557-145229558	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185955691	chr2:145229559-145229560	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562508110	chr2:145229648-145229649	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148106167	chr2:145229663-145229664	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563777872	chr2:145229695-145229696	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191114836	chr2:145229712-145229713	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549371800	chr2:145229723-145229724	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371624893	chr2:145229761-145229762	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111459321	chr2:145229762-145229763	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547314177	chr2:145229763-145229764	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552327005	chr2:145229766-145229767	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62169221	chr2:145229767-145229768	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs372055393	chr2:145229781-145229782	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs3073687	chr2:145229786-145229787	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534664818	chr2:145229813-145229814	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139417754	chr2:145229833-145229834	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1365777	chr2:145229857-145229858	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs571384241	chr2:145229903-145229904	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538793075	chr2:145229917-145229918	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182035308	chr2:145229919-145229920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:3546 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145206800-145253400	Weak transcription	Lung	lung
2	chr2:145211400-145231000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:145215200-145235200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:145216600-145233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:145218200-145230200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:145219400-145230000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:145219400-145230200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:145219400-145230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:145219400-145230600	Weak transcription	Psoas Muscle	Psoas
10	chr2:145219400-145232000	Enhancers	Brain Angular Gyrus	brain
11	chr2:145219600-145228600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:145219600-145230400	Weak transcription	Placenta	Placenta
13	chr2:145220800-145230200	Weak transcription	HSMMtube	muscle
14	chr2:145221200-145230600	Weak transcription	Left Ventricle	heart
15	chr2:145223400-145233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:145223600-145229600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:145224200-145230400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:145224200-145231600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:145224400-145235200	Enhancers	Brain Substantia Nigra	brain
20	chr2:145224600-145229000	Enhancers	Brain Anterior Caudate	brain
21	chr2:145224600-145229800	Enhancers	Fetal Brain Female	brain
22	chr2:145224600-145230200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:145224600-145234400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:145225000-145232000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:145225000-145232800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:145225200-145229000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:145225200-145229000	Enhancers	Fetal Heart	heart
28	chr2:145225200-145229000	Enhancers	NHLF	lung
29	chr2:145225400-145231000	Enhancers	NHDF-Ad	bronchial
30	chr2:145225600-145229200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:145225600-145230000	Weak transcription	Small Intestine	intestine
32	chr2:145225600-145231000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:145225800-145228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:145225800-145228800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:145225800-145230400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:145226200-145229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:145226400-145228800	Weak transcription	Aorta	Aorta
38	chr2:145226400-145230000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:145226400-145230000	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:145226400-145230000	Weak transcription	Right Atrium	heart
41	chr2:145226400-145230800	Weak transcription	Gastric	stomach
42	chr2:145226600-145228600	Weak transcription	Right Ventricle	heart
43	chr2:145226600-145229800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:145226600-145230000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:145226600-145230000	Enhancers	Fetal Brain Male	brain
46	chr2:145226600-145230000	Weak transcription	Spleen	Spleen
47	chr2:145226600-145230200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:145226800-145229200	Enhancers	Fetal Kidney	kidney
49	chr2:145227000-145228600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:145227000-145228800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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