Variant report

Variant	nsv535961
Chromosome Location	chr2:145234169-145285400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1804)
CpG islands
(count:2993)
Chromatin interactive
region (count:58)
LncRNA
region (count:84)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1804 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145265837-145265862	K562	blood:	n/a	n/a
2	ARID3A	chr2:145247814-145247823	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	chr2:145280652-145281300	K562	blood:	n/a	n/a
6	ARID3A	chr2:145279948-145280025	K562	blood:	n/a	n/a
7	ARID3A	chr2:145268402-145268588	K562	blood:	n/a	n/a
8	ARID3A	chr2:145271839-145272052	K562	blood:	n/a	n/a
9	ARID3A	chr2:145263029-145263629	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	chr2:145268054-145268660	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:145268119-145268560	GM12878	blood:	n/a	n/a
14	ATF2	chr2:145265928-145266254	GM12878	blood:	n/a	n/a
15	ATF2	chr2:145267970-145268536	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr2:145268128-145268468	GM12878	blood:	n/a	n/a
17	ATF2	chr2:145276643-145277088	GM12878	blood:	n/a	n/a
18	ATF2	chr2:145247603-145248035	GM12878	blood:	n/a	n/a
19	ATF2	chr2:145276609-145277164	GM12878	blood:	n/a	n/a
20	ATF3	chr2:145275127-145275426	K562	blood:	n/a	chr2:145275129-145275138
21	BACH1	chr2:145281492-145281694	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr2:145274010-145274052	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr2:145265805-145266086	K562	blood:	n/a	n/a
24	BATF	chr2:145275097-145275400	GM12878	blood:	n/a	n/a
25	BATF	chr2:145247645-145247885	GM12878	blood:	n/a	n/a
26	BATF	chr2:145248727-145248920	GM12878	blood:	n/a	n/a
27	BATF	chr2:145275118-145275471	GM12878	blood:	n/a	n/a
28	BATF	chr2:145276723-145277017	GM12878	blood:	n/a	n/a
29	BATF	chr2:145268125-145268565	GM12878	blood:	n/a	n/a
30	BATF	chr2:145248657-145249004	GM12878	blood:	n/a	n/a
31	BCLAF1	chr2:145277319-145277952	K562	blood:	n/a	n/a
32	BCLAF1	chr2:145276577-145277137	GM12878	blood:	n/a	chr2:145276852-145276861
33	BCLAF1	chr2:145275126-145275463	GM12878	blood:	n/a	chr2:145275136-145275149
34	BHLHE40	chr2:145277366-145278353	K562	blood:	n/a	n/a
35	BHLHE40	chr2:145248666-145249056	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:145261823-145261893	K562	blood:	n/a	n/a
37	BHLHE40	chr2:145276695-145277145	GM12878	blood:	n/a	n/a
38	BHLHE40	chr2:145266736-145266936	K562	blood:	n/a	n/a
39	BHLHE40	chr2:145281252-145281523	A549	lung:	n/a	n/a
40	BHLHE40	chr2:145271484-145271542	K562	blood:	n/a	n/a
41	BHLHE40	chr2:145277663-145277997	A549	lung:	n/a	n/a
42	BHLHE40	chr2:145276170-145276611	K562	blood:	n/a	n/a
43	BHLHE40	chr2:145277653-145278022	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:145280860-145282234	K562	blood:	n/a	n/a
45	BHLHE40	chr2:145274855-145274953	K562	blood:	n/a	n/a
46	BHLHE40	chr2:145273210-145273348	K562	blood:	n/a	n/a
47	BHLHE40	chr2:145265964-145266392	K562	blood:	n/a	n/a
48	BHLHE40	chr2:145274940-145275350	GM12878	blood:	n/a	n/a
49	BHLHE40	chr2:145281146-145281518	GM12878	blood:	n/a	n/a
50	BHLHE40	chr2:145277677-145277961	HepG2	liver:	n/a	n/a

(count:2993 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145275197-145275247	IMR90	lung:	fetal
2	chr2:145281622-145281672	ovcar-3	ovarian:	n/a
3	chr2:145282054-145282104	NH-A	brain:	n/a
4	chr2:145280523-145280573	HUVEC	blood vessel:	n/a
5	chr2:145275197-145275247	IMR90	lung:	fetal
6	chr2:145281622-145281672	ovcar-3	ovarian:	n/a
7	chr2:145282054-145282104	NH-A	brain:	n/a
8	chr2:145280523-145280573	HUVEC	blood vessel:	n/a
9	chr2:145237379-145237429	ECC-1	luminal epithelium:	n/a
10	chr2:145248570-145248620	HIPEpiC	eye:	n/a
11	chr2:145248607-145248657	CMK	blood:	n/a
12	chr2:145281739-145281789	ECC-1	luminal epithelium:	n/a
13	chr2:145277843-145277893	NH-A	brain:	n/a
14	chr2:145275868-145275918	MCF-7	breast:	n/a
15	chr2:145237379-145237429	AG09309	skin:	n/a
16	chr2:145274874-145274924	HRCEpiC	kidney:	n/a
17	chr2:145281547-145281597	A549	lung:	n/a
18	chr2:145236966-145237016	A549	lung:	n/a
19	chr2:145280523-145280573	A549	lung:	n/a
20	chr2:145277734-145277784	AG09319	gingival:	n/a
21	chr2:145269644-145269694	HCF	heart:	n/a
22	chr2:145280523-145280573	GM06990	blood:	n/a
23	chr2:145284259-145284309	LNCaP	prostate:	n/a
24	chr2:145254474-145254524	AG04449	skin:	fetal
25	chr2:145277807-145277857	HCF	heart:	n/a
26	chr2:145277843-145277893	H1-hESC	embryonic stem cell:	embryo
27	chr2:145277646-145277696	HCM	heart:	n/a
28	chr2:145267984-145268034	AG04449	skin:	fetal
29	chr2:145275199-145275249	HRCEpiC	kidney:	n/a
30	chr2:145237379-145237429	AG04449	skin:	fetal
31	chr2:145281547-145281597	AG04449	skin:	fetal
32	chr2:145275197-145275247	HRPEpiC	eye:	n/a
33	chr2:145273776-145273826	T-47D	breast:	n/a
34	chr2:145271307-145271357	PFSK-1	brain:	n/a
35	chr2:145271307-145271357	GM12891	blood:	n/a
36	chr2:145277843-145277893	GM06990	blood:	n/a
37	chr2:145282054-145282104	SAEC	small airway:	n/a
38	chr2:145275363-145275413	GM19239	blood:	n/a
39	chr2:145278564-145278614	AG04450	lung:	fetal
40	chr2:145273297-145273347	HCM	heart:	n/a
41	chr2:145277807-145277857	GM12892	blood:	n/a
42	chr2:145275197-145275247	GM12878	blood:	n/a
43	chr2:145271307-145271357	NB4	blood:	n/a
44	chr2:145273297-145273347	NH-A	brain:	n/a
45	chr2:145247292-145247342	NHBE	bronchial:	n/a
46	chr2:145275363-145275413	PFSK-1	brain:	n/a
47	chr2:145282262-145282312	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:145260010-145260060	SKMC	muscle:	n/a
49	chr2:145275199-145275249	HCM	heart:	n/a
50	chr2:145236966-145237016	HEK293	kidney:	embryo

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:145269603..145271961-chr2:145446433..145449274,2	K562	blood:
2	chr2:144757869..144760619-chr2:145264993..145266668,2	K562	blood:
3	chr2:145106386..145108474-chr2:145258308..145261257,2	K562	blood:
4	chr2:145239241..145241056-chr2:145251134..145254110,2	K562	blood:
5	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:
6	chr2:145285107..145287406-chr2:145290961..145292569,2	K562	blood:
7	chr2:145245907..145248266-chr2:145339195..145340715,2	K562	blood:
8	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
9	chr2:145282322..145285312-chr2:145285327..145287295,2	K562	blood:
10	chr2:145280312..145282539-chr2:145284544..145287091,2	K562	blood:
11	chr2:145272277..145274015-chr2:145361196..145363005,2	K562	blood:
12	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:
13	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:
14	chr2:145257019..145259314-chr2:145313240..145315938,2	K562	blood:
15	chr2:145194561..145196178-chr2:145264637..145266543,2	K562	blood:
16	chr2:145088534..145090582-chr2:145236502..145239378,2	MCF-7	breast:
17	chr2:145232088..145234387-chr2:145250411..145252365,2	K562	blood:
18	chr2:145282560..145284808-chr2:145288273..145291283,3	K562	blood:
19	chr18:33161363..33162220-chr2:145274089..145275089,2	MCF-7	breast:
20	chr2:145266275..145269110-chr2:145503905..145505741,2	K562	blood:
21	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
22	chr2:145263149..145265931-chr2:145331209..145333597,2	K562	blood:
23	chr2:145250390..145252682-chr2:145338354..145340585,2	K562	blood:
24	chr2:145232088..145234387-chr2:145250411..145252365,2	K562	blood:
25	chr2:145168398..145170194-chr2:145251175..145252860,2	K562	blood:
26	chr2:145280446..145282014-chr2:145350666..145353467,2	K562	blood:
27	chr2:145268963..145271644-chr2:145434997..145436686,2	K562	blood:
28	chr2:145266442..145269166-chr2:145303925..145306331,2	K562	blood:
29	chr2:145265194..145267869-chr2:145368786..145370299,2	K562	blood:
30	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:
31	chr2:145269944..145272848-chr2:145333813..145335394,2	K562	blood:
32	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:
33	chr2:145264141..145265822-chr2:145439958..145442290,2	K562	blood:
34	chr2:145232893..145234881-chr2:145235361..145237098,2	K562	blood:
35	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
36	chr2:145255733..145257269-chr2:145342387..145344635,2	K562	blood:
37	chr2:145282322..145285312-chr2:145285327..145287295,2	K562	blood:
38	chr2:145282188..145284775-chr2:145288254..145292611,5	K562	blood:
39	chr2:145284050..145286026-chr2:145287841..145289379,2	MCF-7	breast:
40	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:
41	chr2:145239241..145241056-chr2:145251134..145254110,2	K562	blood:
42	chr2:145271135..145273853-chr2:145275375..145278239,3	MCF-7	breast:
43	chr2:145088317..145091113-chr2:145250622..145252280,2	MCF-7	breast:
44	chr2:145238267..145240024-chr2:145275381..145277452,2	K562	blood:
45	chr2:145280408..145282014-chr2:145350666..145354133,3	K562	blood:
46	chr2:145258786..145260794-chr2:145337929..145340893,3	K562	blood:
47	chr2:145279653..145282025-chr2:145468587..145470858,2	K562	blood:
48	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
49	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
50	chr2:145269791..145271356-chr2:145420869..145422777,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-3	chr2:145277782-145277852	NONHSAT074776
2	lnc-ARHGAP15-3	chr2:145277274-145277677	NONHSAT074779
3	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074776
4	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
5	lnc-ZEB2-1	chr2:145281954-145281983	XLOC_002344
6	lnc-ARHGAP15-3	chr2:145275982-145276142	ENSG00000238057.2
7	lnc-ZEB2-1	chr2:145270990-145271364	NONHSAT074769
8	lnc-ARHGAP15-3	chr2:145276024-145276142	ENSG00000238057.4
9	lnc-ARHGAP15-3	chr2:145277181-145277241	ENSG00000238057.2
10	lnc-ARHGAP15-3	chr2:145276319-145276428	ENSG00000238057.4
11	lnc-ZEB2-1	chr2:145262008-145262200	NONHSAT074766
12	lnc-ARHGAP15-3	chr2:145277078-145277677	ENSG00000238057.4
13	lnc-ARHGAP15-3	chr2:145278321-145279044	ENSG00000238057.4
14	lnc-ZEB2-1	chr2:145275254-145275572	NONHSAT074766
15	lnc-ARHGAP15-3	chr2:145278321-145278412	NONHSAT074776
16	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074778
17	lnc-ZEB2-1	chr2:145275226-145275322	NONHSAT074768
18	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
19	lnc-ARHGAP15-3	chr2:145276916-145277042	ENSG00000238057.4
20	lnc-ZEB2-1	chr2:145268952-145271364	NONHSAT074767
21	lnc-ARHGAP15-3	chr2:145277782-145277852	ENSG00000238057.4
22	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074767
23	lnc-ZEB2-1	chr2:145281135-145281395	XLOC_002344
24	lnc-ARHGAP15-3	chr2:145278321-145278465	NR_040248
25	lnc-ARHGAP15-3	chr2:145275664-145276142	ENSG00000238057.4
26	lnc-ZEB2-1	chr2:145281954-145282147	NONHSAT074770
27	lnc-ARHGAP15-3	chr2:145278321-145278389	ENSG00000238057.4
28	lnc-ZEB2-1	chr2:145277506-145277775	NONHSAT074770
29	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.2
30	lnc-ARHGAP15-3	chr2:145277782-145277950	ENSG00000238057.4
31	lnc-ARHGAP15-3	chr2:145276090-145276142	NONHSAT074776
32	lnc-ZEB2-1	chr2:145281222-145281395	NONHSAT074784
33	lnc-ARHGAP15-3	chr2:145277782-145277852	NR_040248
34	lnc-ARHGAP15-3	chr2:145276319-145276428	ENSG00000238057.4
35	lnc-ZEB2-1	chr2:145278123-145278216	NONHSAT074771
36	lnc-ARHGAP15-3	chr2:145277782-145277948	ENSG00000238057.4
37	lnc-ZEB2-1	chr2:145281954-145282074	NONHSAT074784
38	lnc-ARHGAP15-3	chr2:145277403-145277677	ENSG00000238057.4
39	lnc-ARHGAP15-3	chr2:145275770-145276142	ENSG00000238057.4
40	lnc-GTDC1-12	chr2:145251832-145254445	NONHSAT074765
41	lnc-ARHGAP15-3	chr2:145277782-145277940	ENSG00000238057.4
42	lnc-ZEB2-1	chr2:145274918-145274986	NONHSAT074770
43	lnc-ARHGAP15-3	chr2:145277421-145277677	ENSG00000238057.2
44	lnc-ZEB2-1	chr2:145282068-145282228	XLOC_002344
45	lnc-ARHGAP15-17	chr2:145242135-145242317	ucscGeneNc_uc002twc_2
46	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
47	lnc-ARHGAP15-3	chr2:145278321-145278466	ENSG00000238057.2
48	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074768
49	lnc-ARHGAP15-3	chr2:145277181-145277241	NR_040248
50	lnc-ARHGAP15-3	chr2:145277526-145277677	NR_040248

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-181a-5p	chr2:145270887-145270909
2	ZEB2	hsa-miR-200a-3p	chr2:145270071-145270094
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
ENSG00000234940	chromatin interactions
ENSG00000121964	chromatin interactions
ENSG00000141429	chromatin interactions
ENSG00000238057	chromatin interactions
ENSG00000169554	chromatin interactions
ENSG00000213410	chromatin interactions
PLS3	miRNA target sites
USP42	miRNA target sites
DYRK1B	miRNA target sites
ZEB2	miRNA target sites

Extended variants
information (count: 1568 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1568 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567517219	chr2:145234203-145234204	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs538045078	chr2:145234261-145234262	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34975064	chr2:145234292-145234293	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141606696	chr2:145234335-145234336	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150406543	chr2:145234391-145234392	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568732937	chr2:145234401-145234402	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189237464	chr2:145234573-145234574	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536193403	chr2:145234670-145234671	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377364802	chr2:145234674-145234675	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554514106	chr2:145234698-145234699	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138127559	chr2:145234740-145234741	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181591199	chr2:145234747-145234748	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186451115	chr2:145234755-145234756	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576492608	chr2:145234782-145234783	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192133720	chr2:145234899-145234900	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544376305	chr2:145235048-145235049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs149647670	chr2:145235064-145235065	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs4662223	chr2:145235108-145235109	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs577698101	chr2:145235133-145235134	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs541683324	chr2:145235146-145235147	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs180941229	chr2:145235149-145235150	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs527267102	chr2:145235159-145235160	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs551901536	chr2:145235207-145235208	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144380575	chr2:145235214-145235215	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs75072083	chr2:145235259-145235260	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550339478	chr2:145235262-145235263	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374025655	chr2:145235325-145235326	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113071983	chr2:145235404-145235405	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs553774127	chr2:145235406-145235407	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs562697096	chr2:145235412-145235413	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs569700338	chr2:145235456-145235457	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs185979115	chr2:145235515-145235516	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs548080421	chr2:145235572-145235573	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs533173145	chr2:145235586-145235587	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs539824529	chr2:145235646-145235647	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs368176184	chr2:145235661-145235662	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs576481099	chr2:145235722-145235723	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs190703745	chr2:145235741-145235742	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs555841726	chr2:145235751-145235752	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs138982867	chr2:145235766-145235767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs35907433	chr2:145235810-145235811	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs75881828	chr2:145235927-145235928	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs142138481	chr2:145235941-145235942	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs146347484	chr2:145235961-145235962	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs182644465	chr2:145236028-145236029	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71338148	chr2:145236038-145236039	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7598023	chr2:145236039-145236040	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186967408	chr2:145236042-145236043	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551597427	chr2:145236123-145236124	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7600781	chr2:145236142-145236143	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:3269 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145206800-145253400	Weak transcription	Lung	lung
2	chr2:145215200-145235200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:145224400-145235200	Enhancers	Brain Substantia Nigra	brain
4	chr2:145224600-145234400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:145228800-145238200	Genic enhancers	K562	blood
6	chr2:145229000-145235200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:145229000-145253600	Weak transcription	HUVEC	blood vessel
8	chr2:145229200-145234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:145229200-145235000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:145229200-145240000	Weak transcription	Aorta	Aorta
11	chr2:145229400-145235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:145229400-145235800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:145229400-145237000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:145229400-145242200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:145229600-145236200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:145229600-145241600	Genic enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:145229800-145237000	Enhancers	Brain Anterior Caudate	brain
18	chr2:145230200-145237000	Strong transcription	Primary B cells from cord blood	blood
19	chr2:145230200-145247200	Weak transcription	Colonic Mucosa	Colon
20	chr2:145230600-145234600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:145230600-145236200	Enhancers	Fetal Heart	heart
22	chr2:145231000-145235200	Enhancers	Fetal Brain Male	brain
23	chr2:145231200-145234800	Strong transcription	HSMM	muscle
24	chr2:145231200-145235400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:145231400-145235000	Enhancers	Brain Hippocampus Middle	brain
26	chr2:145231400-145247200	Weak transcription	Gastric	stomach
27	chr2:145231800-145235000	Weak transcription	Brain Germinal Matrix	brain
28	chr2:145231800-145235200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:145231800-145238800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:145231800-145241000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:145231800-145243600	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:145232000-145234200	Weak transcription	Fetal Brain Female	brain
33	chr2:145232000-145235000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:145232000-145235000	Weak transcription	Right Atrium	heart
35	chr2:145232000-145235200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:145232000-145236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:145232000-145236800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:145232000-145236800	Weak transcription	Left Ventricle	heart
39	chr2:145232000-145237000	Weak transcription	Placenta	Placenta
40	chr2:145232000-145237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:145232000-145241800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:145232200-145234200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:145232200-145234800	Enhancers	NHDF-Ad	bronchial
44	chr2:145232200-145235000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:145232200-145235200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:145232200-145235600	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:145232200-145237800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:145232600-145235200	Enhancers	Brain Angular Gyrus	brain
49	chr2:145233200-145234400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:145233200-145234600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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