Variant report

Variant	nsv535958
Chromosome Location	chr2:145190081-145285400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2795)
CpG islands
(count:3419)
Chromatin interactive
region (count:106)
LncRNA
region (count:91)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2795 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145210157-145210637	K562	blood:	n/a	n/a
2	ARID3A	chr2:145198832-145199989	K562	blood:	n/a	n/a
3	ARID3A	chr2:145217839-145217938	K562	blood:	n/a	n/a
4	ARID3A	chr2:145279948-145280025	K562	blood:	n/a	n/a
5	ARID3A	chr2:145280652-145281300	K562	blood:	n/a	n/a
6	ARID3A	chr2:145216172-145216307	K562	blood:	n/a	n/a
7	ARID3A	chr2:145247814-145247823	K562	blood:	n/a	n/a
8	ARID3A	chr2:145237553-145237708	K562	blood:	n/a	n/a
9	ARID3A	chr2:145218960-145219142	K562	blood:	n/a	n/a
10	ARID3A	chr2:145200977-145201674	K562	blood:	n/a	n/a
11	ARID3A	chr2:145265837-145265862	K562	blood:	n/a	n/a
12	ARID3A	chr2:145214141-145214521	K562	blood:	n/a	n/a
13	ARID3A	chr2:145277565-145278860	K562	blood:	n/a	chr2:145277574-145277589 chr2:145278760-145278776
14	ARID3A	chr2:145263029-145263629	K562	blood:	n/a	n/a
15	ARID3A	chr2:145268402-145268588	K562	blood:	n/a	n/a
16	ARID3A	chr2:145222289-145222487	K562	blood:	n/a	n/a
17	ARID3A	chr2:145271839-145272052	K562	blood:	n/a	n/a
18	ARID3A	chr2:145212428-145212963	K562	blood:	n/a	n/a
19	ATF1	chr2:145209965-145210907	K562	blood:	n/a	n/a
20	ATF1	chr2:145201535-145201781	K562	blood:	n/a	n/a
21	ATF1	chr2:145217578-145217845	K562	blood:	n/a	n/a
22	ATF1	chr2:145277550-145277982	K562	blood:	n/a	n/a
23	ATF1	chr2:145198731-145199760	K562	blood:	n/a	n/a
24	ATF1	chr2:145263151-145263495	K562	blood:	n/a	n/a
25	ATF2	chr2:145268054-145268660	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr2:145212254-145212806	GM12878	blood:	n/a	n/a
27	ATF2	chr2:145276643-145277088	GM12878	blood:	n/a	n/a
28	ATF2	chr2:145268128-145268468	GM12878	blood:	n/a	n/a
29	ATF2	chr2:145247603-145248035	GM12878	blood:	n/a	n/a
30	ATF2	chr2:145276609-145277164	GM12878	blood:	n/a	n/a
31	ATF2	chr2:145228881-145229305	GM12878	blood:	n/a	n/a
32	ATF2	chr2:145267970-145268536	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr2:145268119-145268560	GM12878	blood:	n/a	n/a
34	ATF2	chr2:145228850-145229383	GM12878	blood:	n/a	n/a
35	ATF2	chr2:145265928-145266254	GM12878	blood:	n/a	n/a
36	ATF2	chr2:145228839-145229224	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF3	chr2:145218869-145219245	K562	blood:	n/a	n/a
38	ATF3	chr2:145199118-145199708	K562	blood:	n/a	chr2:145199347-145199361
39	ATF3	chr2:145275127-145275426	K562	blood:	n/a	chr2:145275129-145275138
40	BACH1	chr2:145281492-145281694	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr2:145274010-145274052	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr2:145265805-145266086	K562	blood:	n/a	n/a
43	BATF	chr2:145248657-145249004	GM12878	blood:	n/a	n/a
44	BATF	chr2:145276723-145277017	GM12878	blood:	n/a	n/a
45	BATF	chr2:145275118-145275471	GM12878	blood:	n/a	n/a
46	BATF	chr2:145247645-145247885	GM12878	blood:	n/a	n/a
47	BATF	chr2:145248727-145248920	GM12878	blood:	n/a	n/a
48	BATF	chr2:145275097-145275400	GM12878	blood:	n/a	n/a
49	BATF	chr2:145212339-145212702	GM12878	blood:	n/a	n/a
50	BATF	chr2:145268125-145268565	GM12878	blood:	n/a	n/a

(count:3419 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145275868-145275918	ECC-1	luminal epithelium:	n/a
2	chr2:145281547-145281597	A549	lung:	n/a
3	chr2:145275322-145275372	ovcar-3	ovarian:	n/a
4	chr2:145275868-145275918	ECC-1	luminal epithelium:	n/a
5	chr2:145281547-145281597	A549	lung:	n/a
6	chr2:145275322-145275372	ovcar-3	ovarian:	n/a
7	chr2:145269644-145269694	HCF	heart:	n/a
8	chr2:145274125-145274175	SK-N-SH_RA	brain:	n/a
9	chr2:145275441-145275491	U87	brain:	n/a
10	chr2:145248607-145248657	Caco-2	colon:	n/a
11	chr2:145210222-145210272	SKMC	muscle:	n/a
12	chr2:145218137-145218187	AG09319	gingival:	n/a
13	chr2:145280523-145280573	GM19239	blood:	n/a
14	chr2:145277852-145277902	AG04450	lung:	fetal
15	chr2:145274201-145274251	SK-N-MC	brain:	n/a
16	chr2:145278564-145278614	CMK	blood:	n/a
17	chr2:145260010-145260060	A549	lung:	n/a
18	chr2:145274125-145274175	A549	lung:	n/a
19	chr2:145278564-145278614	NH-A	brain:	n/a
20	chr2:145280784-145280834	HIPEpiC	eye:	n/a
21	chr2:145282262-145282312	GM12878	blood:	n/a
22	chr2:145277646-145277696	Jurkat	blood:	n/a
23	chr2:145280784-145280834	Jurkat	blood:	n/a
24	chr2:145247292-145247342	HCF	heart:	n/a
25	chr2:145196972-145197022	HL-60	blood:	n/a
26	chr2:145248607-145248657	GM12891	blood:	n/a
27	chr2:145275197-145275247	NH-A	brain:	n/a
28	chr2:145281519-145281569	HepG2	liver:	n/a
29	chr2:145271307-145271357	LNCaP	prostate:	n/a
30	chr2:145226929-145226979	ovcar-3	ovarian:	n/a
31	chr2:145274201-145274251	Caco-2	colon:	n/a
32	chr2:145248607-145248657	IMR90	lung:	fetal
33	chr2:145248607-145248657	SAEC	small airway:	n/a
34	chr2:145278564-145278614	HAEpiC	amniotic membrane:	n/a
35	chr2:145247292-145247342	LNCaP	prostate:	n/a
36	chr2:145277596-145277646	AG09319	gingival:	n/a
37	chr2:145275199-145275249	HIPEpiC	eye:	n/a
38	chr2:145277646-145277696	HAEpiC	amniotic membrane:	n/a
39	chr2:145277734-145277784	GM19239	blood:	n/a
40	chr2:145254474-145254524	Hela-S3	cervix:	n/a
41	chr2:145277646-145277696	AG09309	skin:	n/a
42	chr2:145231644-145231694	SK-N-SH_RA	brain:	n/a
43	chr2:145281622-145281672	HUVEC	blood vessel:	n/a
44	chr2:145273297-145273347	NH-A	brain:	n/a
45	chr2:145274874-145274924	NB4	blood:	n/a
46	chr2:145281942-145281992	A549	lung:	n/a
47	chr2:145230271-145230321	HepG2	liver:	n/a
48	chr2:145247292-145247342	T-47D	breast:	n/a
49	chr2:145273297-145273347	PFSK-1	brain:	n/a
50	chr2:145202065-145202115	HAEpiC	amniotic membrane:	n/a

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:145198751..145201747-chr2:145274467..145276424,2	K562	blood:
2	chr2:145197694..145199752-chr2:145203612..145206224,2	MCF-7	breast:
3	chr2:145269791..145271356-chr2:145420869..145422777,2	K562	blood:
4	chr2:145197489..145199273-chr2:145272443..145274142,2	K562	blood:
5	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:
6	chr2:145199757..145203422-chr2:145204800..145206828,4	K562	blood:
7	chr2:145271135..145273853-chr2:145275375..145278239,3	MCF-7	breast:
8	chr2:145218002..145220863-chr2:145221709..145223384,2	K562	blood:
9	chr2:145106386..145108474-chr2:145258308..145261257,2	K562	blood:
10	chr2:145190065..145193052-chr2:145193360..145196551,3	K562	blood:
11	chr2:145269603..145271961-chr2:145446433..145449274,2	K562	blood:
12	chr2:145282322..145285312-chr2:145285327..145287295,2	K562	blood:
13	chr2:145257687..145260314-chr2:145338650..145340893,3	K562	blood:
14	chr2:145209344..145212290-chr2:145212621..145216971,7	K562	blood:
15	chr2:145194561..145196178-chr2:145264637..145266543,2	K562	blood:
16	chr2:145284448..145287063-chr2:145337882..145340478,2	K562	blood:
17	chr2:145201294..145201913-chr2:145209488..145210295,2	K562	blood:
18	chr2:145239241..145241056-chr2:145251134..145254110,2	K562	blood:
19	chr2:145197698..145202447-chr2:145209802..145215980,7	K562	blood:
20	chr2:145088317..145091113-chr2:145250622..145252280,2	MCF-7	breast:
21	chr2:145214847..145217475-chr2:145220542..145223853,4	K562	blood:
22	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
23	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
24	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
25	chr2:145263149..145265931-chr2:145331209..145333597,2	K562	blood:
26	chr2:145203606..145207323-chr2:145208273..145212393,4	K562	blood:
27	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:
28	chr2:145229032..145232758-chr2:145276076..145278074,3	K562	blood:
29	chr2:145232088..145234387-chr2:145250411..145252365,2	K562	blood:
30	chr2:145238267..145240024-chr2:145275381..145277452,2	K562	blood:
31	chr2:145190065..145193052-chr2:145193360..145196551,3	K562	blood:
32	chr2:145280408..145282014-chr2:145350666..145354133,3	K562	blood:
33	chr2:145232893..145234431-chr2:145235361..145237709,2	K562	blood:
34	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:
35	chr2:145207858..145210614-chr2:145217823..145220494,2	K562	blood:
36	chr2:145282188..145284775-chr2:145288254..145292611,5	K562	blood:
37	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
38	chr2:145186489..145188357-chr2:145188728..145190384,2	K562	blood:
39	chr2:145245907..145248266-chr2:145339195..145340715,2	K562	blood:
40	chr2:145208190..145210940-chr2:145216077..145217655,2	MCF-7	breast:
41	chr2:145282560..145284808-chr2:145288273..145291283,3	K562	blood:
42	chr2:145280312..145282539-chr2:145284544..145287091,2	K562	blood:
43	chr2:145197489..145199273-chr2:145272443..145274142,2	K562	blood:
44	chr2:145280446..145282014-chr2:145350666..145353467,2	K562	blood:
45	chr2:145269944..145272848-chr2:145333813..145335394,2	K562	blood:
46	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
47	chr2:145209148..145210888-chr2:145417930..145420148,2	K562	blood:
48	chr2:145232893..145234881-chr2:145235361..145237098,2	K562	blood:
49	chr2:145202502..145204314-chr2:145213044..145215998,2	K562	blood:
50	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:

(count:91 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-15	chr2:145222856-145223015	NONHSAT074764
2	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.2
3	lnc-ARHGAP15-3	chr2:145277782-145277948	ENSG00000238057.4
4	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
5	lnc-ZEB2-1	chr2:145281131-145281395	XLOC_002344
6	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
7	lnc-ARHGAP15-3	chr2:145277181-145277241	ENSG00000238057.2
8	lnc-ARHGAP15-14	chr2:145208453-145208545	NONHSAT074761
9	lnc-ARHGAP15-14	chr2:145208235-145208447	NONHSAT074761
10	lnc-ARHGAP15-3	chr2:145277078-145277677	ENSG00000238057.4
11	lnc-ARHGAP15-3	chr2:145275664-145276142	ENSG00000238057.4
12	lnc-ZEB2-1	chr2:145274918-145274986	NONHSAT074771
13	lnc-ARHGAP15-3	chr2:145277421-145277677	ENSG00000238057.2
14	lnc-ARHGAP15-3	chr2:145275767-145276142	ENSG00000238057.4
15	lnc-GTDC1-12	chr2:145251832-145254445	NONHSAT074765
16	lnc-ZEB2-1	chr2:145218679-145221645	NONHSAT074762
17	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074768
18	lnc-ARHGAP15-3	chr2:145277782-145277940	ENSG00000238057.4
19	lnc-ZEB2-1	chr2:145262008-145262200	NONHSAT074766
20	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
21	lnc-ARHGAP15-3	chr2:145277274-145277677	NONHSAT074779
22	lnc-ARHGAP15-3	chr2:145278173-145278248	ENSG00000238057.4
23	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074766
24	lnc-ZEB2-1	chr2:145282068-145282228	XLOC_002344
25	lnc-ARHGAP15-3	chr2:145278321-145278445	ENSG00000238057.2
26	lnc-ARHGAP15-3	chr2:145275982-145276142	NONHSAT074775
27	lnc-ARHGAP15-3	chr2:145276090-145276142	NONHSAT074776
28	lnc-ARHGAP15-3	chr2:145276024-145276142	ENSG00000238057.4
29	lnc-ARHGAP15-3	chr2:145277782-145277950	ENSG00000238057.4
30	lnc-ARHGAP15-15	chr2:145223112-145223294	NONHSAT074764
31	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074767
32	lnc-ARHGAP15-3	chr2:145275982-145276142	ENSG00000238057.2
33	lnc-ZEB2-1	chr2:145281954-145281983	XLOC_002344
34	lnc-ARHGAP15-3	chr2:145278321-145278389	ENSG00000238057.4
35	lnc-ARHGAP15-3	chr2:145278321-145278466	ENSG00000238057.2
36	lnc-ARHGAP15-3	chr2:145277782-145277950	ENSG00000238057.4
37	lnc-ARHGAP15-3	chr2:145278321-145278465	NR_040248
38	lnc-ZEB2-1	chr2:145282179-145282207	XLOC_002344
39	lnc-ZEB2-1	chr2:145281954-145282147	NONHSAT074770
40	lnc-ARHGAP15-3	chr2:145277218-145277241	NONHSAT074778
41	lnc-ARHGAP15-3	chr2:145275770-145276142	ENSG00000238057.4
42	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074776
43	lnc-ARHGAP15-3	chr2:145276319-145276428	ENSG00000238057.4
44	lnc-ZEB2-1	chr2:145281135-145281395	XLOC_002344
45	lnc-ARHGAP15-3	chr2:145277782-145277852	ENSG00000238057.4
46	lnc-ARHGAP15-3	chr2:145277526-145277677	NR_040248
47	lnc-ARHGAP15-3	chr2:145277782-145277852	ENSG00000238057.2
48	lnc-ARHGAP15-3	chr2:145277403-145277934	ENSG00000238057.4
49	lnc-ZEB2-1	chr2:145268952-145271364	NONHSAT074767
50	lnc-ARHGAP15-3	chr2:145278321-145278412	NONHSAT074776

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-141-3p	chr2:145270071-145270097
3	ZEB2	hsa-miR-200a-3p	chr2:145270071-145270094

Variant related genes	Relation type
ENSG00000213410	TF binding region
ENSG00000176824	TF binding region
ZEB2	TF binding region
ZEB2-AS1	TF binding region
ENSG00000213410	CpG island
ENSG00000176824	CpG island
ZEB2	CpG island
ZEB2-AS1	CpG island
ENSG00000141429	chromatin interactions
ENSG00000169554	chromatin interactions
ENSG00000234940	chromatin interactions
ENSG00000238057	chromatin interactions
ENSG00000121964	chromatin interactions
ENSG00000176824	chromatin interactions
ENSG00000213410	chromatin interactions
DYRK1B	miRNA target sites
ZEB2	miRNA target sites
PLS3	miRNA target sites
USP42	miRNA target sites

Extended variants
information (count: 2948 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2948 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78260413	chr2:145190104-145190105	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563894359	chr2:145190142-145190143	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575962868	chr2:145190146-145190147	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191989755	chr2:145190160-145190161	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184813250	chr2:145190188-145190189	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189009462	chr2:145190194-145190195	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558488167	chr2:145190205-145190206	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs115730599	chr2:145190271-145190272	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540703191	chr2:145190327-145190328	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548703315	chr2:145190364-145190365	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565271829	chr2:145190368-145190369	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139311993	chr2:145190374-145190375	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs56795864	chr2:145190377-145190378	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565737852	chr2:145190387-145190388	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs371377958	chr2:145190402-145190403	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532488183	chr2:145190419-145190420	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551135509	chr2:145190424-145190425	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569522539	chr2:145190431-145190432	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192339150	chr2:145190462-145190463	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549052985	chr2:145190490-145190491	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184289525	chr2:145190544-145190545	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs61625750	chr2:145190549-145190550	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs534355050	chr2:145190615-145190616	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78388210	chr2:145190715-145190716	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138479513	chr2:145190733-145190734	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545976413	chr2:145190790-145190791	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552947100	chr2:145190830-145190831	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571336010	chr2:145190909-145190910	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538740041	chr2:145191011-145191012	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557550283	chr2:145191100-145191101	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575950959	chr2:145191107-145191108	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189654695	chr2:145191151-145191152	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554992099	chr2:145191253-145191254	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200875155	chr2:145191335-145191336	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs181172457	chr2:145191344-145191345	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs76911055	chr2:145191377-145191378	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565305559	chr2:145191452-145191453	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534140668	chr2:145191495-145191496	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113332986	chr2:145191515-145191516	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112438712	chr2:145191565-145191566	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189207813	chr2:145191568-145191569	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530644401	chr2:145191594-145191595	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374688739	chr2:145191600-145191601	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549241768	chr2:145191619-145191620	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs143013799	chr2:145191644-145191645	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567413240	chr2:145191675-145191676	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs528407285	chr2:145191687-145191688	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs67375672	chr2:145191705-145191706	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571272615	chr2:145191721-145191722	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs146126444	chr2:145191783-145191784	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5373 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
2	chr2:145157800-145206200	Weak transcription	Lung	lung
3	chr2:145159000-145193800	Weak transcription	Dnd41	blood
4	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:145182200-145190800	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:145183000-145194600	Weak transcription	Hela-S3	cervix
8	chr2:145184600-145193200	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:145185000-145196000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:145185600-145203000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:145187200-145190400	Genic enhancers	K562	blood
12	chr2:145187600-145191400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:145187600-145191800	Enhancers	NHDF-Ad	bronchial
14	chr2:145187600-145194600	Weak transcription	HUVEC	blood vessel
15	chr2:145187600-145198200	Weak transcription	Placenta	Placenta
16	chr2:145187600-145198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:145187800-145190200	Enhancers	Adipose Nuclei	Adipose
18	chr2:145187800-145192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:145188000-145190400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:145188000-145191000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:145188000-145191000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:145188000-145191000	Enhancers	Colon Smooth Muscle	Colon
23	chr2:145188000-145191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:145188000-145192000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:145188200-145190200	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:145188200-145190800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:145188200-145190800	Enhancers	Osteobl	bone
28	chr2:145188200-145191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:145188200-145191200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:145188200-145191600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:145188200-145192000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:145188200-145192200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:145188200-145192400	Enhancers	Fetal Stomach	stomach
34	chr2:145188400-145191000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:145188600-145190600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:145188800-145190200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:145188800-145191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:145188800-145192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:145188800-145192000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:145188800-145192000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:145188800-145192400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:145188800-145196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:145189000-145190800	Enhancers	Fetal Heart	heart
44	chr2:145189000-145191600	Enhancers	HSMMtube	muscle
45	chr2:145189000-145193000	Genic enhancers	Fetal Lung	lung
46	chr2:145189000-145198400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:145189200-145190200	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:145189200-145190400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:145189200-145190600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:145189200-145190800	Enhancers	Fetal Muscle Leg	muscle

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