Variant report

Variant	nsv1009602
Chromosome Location	chr2:148668195-148844240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2222)
CpG islands
(count:1099)
Chromatin interactive
region (count:95)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:2222 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:148668543-148668875	K562	blood:	n/a	n/a
2	ARID3A	chr2:148780420-148780619	K562	blood:	n/a	n/a
3	ARID3A	chr2:148777693-148778271	K562	blood:	n/a	n/a
4	ARID3A	chr2:148747394-148747852	K562	blood:	n/a	n/a
5	ARID3A	chr2:148777639-148778741	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:148747414-148747709	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:148779891-148780131	K562	blood:	n/a	n/a
8	ARID3A	chr2:148778946-148779315	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:148668525-148668984	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:148810230-148810584	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:148756715-148756858	K562	blood:	n/a	n/a
12	ARID3A	chr2:148776453-148776679	K562	blood:	n/a	n/a
13	ARID3A	chr2:148684448-148685625	HepG2	liver:	n/a	n/a
14	ATF1	chr2:148778210-148778730	K562	blood:	n/a	n/a
15	ATF1	chr2:148674506-148674617	K562	blood:	n/a	n/a
16	ATF1	chr2:148668543-148668783	K562	blood:	n/a	n/a
17	ATF2	chr2:148777775-148778557	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr2:148805766-148807114	GM12878	blood:	n/a	n/a
19	ATF2	chr2:148799610-148800244	GM12878	blood:	n/a	n/a
20	ATF2	chr2:148799549-148800235	GM12878	blood:	n/a	n/a
21	ATF2	chr2:148778167-148779037	GM12878	blood:	n/a	n/a
22	ATF2	chr2:148777599-148779168	GM12878	blood:	n/a	n/a
23	ATF2	chr2:148805695-148807140	GM12878	blood:	n/a	n/a
24	ATF3	chr2:148778167-148778529	HepG2	liver:	n/a	chr2:148778471-148778480
25	ATF3	chr2:148777950-148778529	GM12878	blood:	n/a	chr2:148778471-148778480
26	BATF	chr2:148803918-148804156	GM12878	blood:	n/a	n/a
27	BATF	chr2:148789167-148789394	GM12878	blood:	n/a	n/a
28	BATF	chr2:148799772-148800076	GM12878	blood:	n/a	chr2:148799907-148799918
29	BATF	chr2:148806449-148806848	GM12878	blood:	n/a	chr2:148806614-148806625
30	BATF	chr2:148803827-148804138	GM12878	blood:	n/a	n/a
31	BATF	chr2:148799707-148800070	GM12878	blood:	n/a	chr2:148799907-148799918
32	BATF	chr2:148806259-148806907	GM12878	blood:	n/a	chr2:148806614-148806625
33	BCL11A	chr2:148806525-148806767	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:148799845-148800073	GM12878	blood:	n/a	chr2:148800002-148800011
35	BCL11A	chr2:148806110-148806885	GM12878	blood:	n/a	n/a
36	BCL11A	chr2:148799776-148800128	GM12878	blood:	n/a	chr2:148800002-148800011
37	BCL3	chr2:148799732-148800218	GM12878	blood:	n/a	chr2:148800002-148800011
38	BCL3	chr2:148778097-148778782	A549	lung:	n/a	chr2:148778394-148778403
39	BCL3	chr2:148805871-148806863	GM12878	blood:	n/a	n/a
40	BCLAF1	chr2:148777838-148778752	GM12878	blood:	n/a	chr2:148778394-148778403
41	BCLAF1	chr2:148777882-148779142	GM12878	blood:	n/a	chr2:148778394-148778403
42	BCLAF1	chr2:148747364-148747810	GM12878	blood:	n/a	n/a
43	BCLAF1	chr2:148805628-148807044	GM12878	blood:	n/a	n/a
44	BCLAF1	chr2:148806074-148806967	GM12878	blood:	n/a	n/a
45	BCLAF1	chr2:148799581-148800151	GM12878	blood:	n/a	chr2:148800002-148800011
46	BCLAF1	chr2:148778798-148779291	GM12878	blood:	n/a	n/a
47	BCLAF1	chr2:148799725-148800084	GM12878	blood:	n/a	chr2:148800002-148800011
48	BHLHE40	chr2:148842666-148842699	A549	lung:	n/a	n/a
49	BHLHE40	chr2:148783631-148783811	K562	blood:	n/a	n/a
50	BHLHE40	chr2:148684660-148685068	HepG2	liver:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:148779348-148779398	HIPEpiC	eye:	n/a
2	chr2:148779348-148779398	HIPEpiC	eye:	n/a
3	chr2:148778181-148778231	AoSMC	blood vessel:	n/a
4	chr2:148779335-148779385	SAEC	small airway:	n/a
5	chr2:148753294-148753344	SK-N-SH_RA	brain:	n/a
6	chr2:148777915-148777965	K562	blood:	n/a
7	chr2:148778969-148779019	NH-A	brain:	n/a
8	chr2:148782427-148782477	SK-N-SH_RA	brain:	n/a
9	chr2:148839265-148839315	AoSMC	blood vessel:	n/a
10	chr2:148778288-148778338	HIPEpiC	eye:	n/a
11	chr2:148778288-148778338	H1-hESC	embryonic stem cell:	embryo
12	chr2:148778969-148779019	A549	lung:	n/a
13	chr2:148753294-148753344	IMR90	lung:	fetal
14	chr2:148758708-148758758	GM06990	blood:	n/a
15	chr2:148779348-148779398	H1-hESC	embryonic stem cell:	embryo
16	chr2:148778288-148778338	AG04450	lung:	fetal
17	chr2:148753294-148753344	HEEpiC	esophagus:	n/a
18	chr2:148815999-148816049	Jurkat	blood:	n/a
19	chr2:148732064-148732114	ProgFib	skin:	n/a
20	chr2:148779564-148779614	HEEpiC	esophagus:	n/a
21	chr2:148779335-148779385	PFSK-1	brain:	n/a
22	chr2:148758708-148758758	IMR90	lung:	fetal
23	chr2:148779335-148779385	HRE	kidney:	n/a
24	chr2:148753294-148753344	PANC-1	pancreas:	n/a
25	chr2:148779348-148779398	K562	blood:	n/a
26	chr2:148747824-148747874	Jurkat	blood:	n/a
27	chr2:148779307-148779357	HNPCEpiC	eye:	n/a
28	chr2:148839265-148839315	AG04450	lung:	fetal
29	chr2:148777915-148777965	AG09309	skin:	n/a
30	chr2:148779683-148779733	GM12891	blood:	n/a
31	chr2:148778495-148778545	NHBE	bronchial:	n/a
32	chr2:148777915-148777965	T-47D	breast:	n/a
33	chr2:148782427-148782477	HRPEpiC	eye:	n/a
34	chr2:148779348-148779398	SK-N-SH	brain:	n/a
35	chr2:148815999-148816049	HRPEpiC	eye:	n/a
36	chr2:148815999-148816049	HIPEpiC	eye:	n/a
37	chr2:148779564-148779614	NH-A	brain:	n/a
38	chr2:148779683-148779733	HRPEpiC	eye:	n/a
39	chr2:148815999-148816049	SKMC	muscle:	n/a
40	chr2:148687484-148687534	GM06990	blood:	n/a
41	chr2:148815999-148816049	HCF	heart:	n/a
42	chr2:148779307-148779357	HRPEpiC	eye:	n/a
43	chr2:148753294-148753344	HCT-116	colon:	n/a
44	chr2:148778288-148778338	SKMC	muscle:	n/a
45	chr2:148778969-148779019	K562	blood:	n/a
46	chr2:148778288-148778338	Caco-2	colon:	n/a
47	chr2:148778495-148778545	GM12891	blood:	n/a
48	chr2:148779307-148779357	GM12878	blood:	n/a
49	chr2:148839265-148839315	HL-60	blood:	n/a
50	chr2:148687484-148687534	ovcar-3	ovarian:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
2	chr2:148686945..148688969-chr2:148693419..148695079,2	MCF-7	breast:
3	chr2:148777400..148781221-chr2:148785788..148788815,4	MCF-7	breast:
4	chr2:148717126..148719327-chr2:148720012..148722132,2	K562	blood:
5	chr2:148762250..148764768-chr2:148777590..148779447,2	MCF-7	breast:
6	chr2:148686777..148688417-chr2:148690685..148692251,2	MCF-7	breast:
7	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
8	chr2:148777800..148778420-chr6:32821048..32821837,2	NB4	blood:
9	chr2:148796353..148798191-chr2:148802415..148804582,2	K562	blood:
10	chr2:148379824..148380376-chr2:148668170..148668996,2	MCF-7	breast:
11	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
12	chr2:148725581..148727272-chr2:148778276..148779980,2	K562	blood:
13	chr2:148736461..148738004-chr2:148741042..148743532,2	K562	blood:
14	chr2:148790987..148792533-chr2:148818638..148820263,2	K562	blood:
15	chr2:148776962..148779896-chr2:148780492..148782888,3	MCF-7	breast:
16	chr2:148747289..148748018-chr2:149266484..149267635,9	MCF-7	breast:
17	chr2:148679983..148681513-chr2:148684810..148687747,2	K562	blood:
18	chr2:148773879..148776006-chr2:148779968..148781591,2	MCF-7	breast:
19	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
20	chr2:148679481..148681984-chr2:148684810..148687787,3	K562	blood:
21	chr2:148747119..148747979-chr2:148777459..148778023,2	MCF-7	breast:
22	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
23	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:
24	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:
25	chr2:148679983..148681513-chr2:148684810..148687747,2	K562	blood:
26	chr2:148747086..148748063-chr2:149266705..149267668,7	MCF-7	breast:
27	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
28	chr2:148747393..148748097-chr2:149846190..149846982,2	MCF-7	breast:
29	chr2:148826768..148827504-chr6:20350150..20350710,2	MCF-7	breast:
30	chr2:148674607..148677009-chr2:148679440..148681399,2	K562	blood:
31	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
32	chr2:148747445..148748127-chr2:149846144..149846862,2	K562	blood:
33	chr2:148685824..148687356-chr2:149266124..149268743,2	K562	blood:
34	chr2:148762432..148764977-chr2:148778675..148780305,2	MCF-7	breast:
35	chr2:148674607..148677009-chr2:148679440..148681399,2	K562	blood:
36	chr2:148765519..148769720-chr2:148770172..148772833,3	K562	blood:
37	chr2:148674045..148677009-chr2:148679440..148682573,3	K562	blood:
38	chr2:148773879..148776006-chr2:148779968..148781591,2	MCF-7	breast:
39	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
40	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:
41	chr2:148765021..148767403-chr2:148770633..148772597,2	K562	blood:
42	chr2:148778374..148778927-chr5:41925178..41925893,2	Hela-S3	cervix:
43	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
44	chr2:148747119..148747979-chr2:148777459..148778023,2	MCF-7	breast:
45	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
46	chr2:148746466..148747928-chr2:148959011..148960040,7	MCF-7	breast:
47	chr2:148679481..148681984-chr2:148684810..148687787,3	K562	blood:
48	chr2:148674045..148677009-chr2:148679440..148682573,3	K562	blood:
49	chr2:148678040..148681031-chr2:148684341..148686999,2	MCF-7	breast:
50	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148778596-148778615	NONHSAT074872
2	lnc-MBD5-1	chr2:148826141-148826162	NONHSAT074878
3	lnc-MBD5-1	chr2:148782535-148782771	NONHSAT074877
4	lnc-MMADHC-10	chr2:148731017-148731093	NONHSAT074870
5	lnc-MBD5-1	chr2:148798775-148798934	NONHSAT074876
6	lnc-MBD5-1	chr2:148779008-148779253	NONHSAT074874
7	lnc-MBD5-1	chr2:148781621-148781743	NONHSAT074877
8	lnc-MMADHC-12	chr2:148695546-148695782	NONHSAT074867
9	lnc-MMADHC-12	chr2:148695715-148695749	NONHSAT074866
10	lnc-MBD5-1	chr2:148779033-148779253	NONHSAT074875
11	lnc-MMADHC-12	chr2:148693882-148694584	NONHSAT074866
12	lnc-MMADHC-12	chr2:148695867-148696219	NONHSAT074867
13	lnc-MMADHC-10	chr2:148778202-148778295	NONHSAT074870
14	lnc-MBD5-1	chr2:148778580-148778615	NONHSAT074871
15	lnc-MBD5-1	chr2:148811960-148812018	NONHSAT074874
16	lnc-MBD5-1	chr2:148778807-148779253	NONHSAT074873
17	lnc-MBD5-1	chr2:148782535-148782627	NONHSAT074873
18	lnc-MMADHC-10	chr2:148730308-148730398	NONHSAT074870
19	lnc-MMADHC-10	chr2:148733471-148733544	NONHSAT074870
20	lnc-MMADHC-10	chr2:148716161-148716435	NONHSAT074870
21	lnc-MBD5-1	chr2:148779162-148779253	NONHSAT074876

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ACVR2A	hsa-miR-16-5p	chr2:148685330-148685352
2	ACVR2A	hsa-miR-186-5p	chr2:148687104-148687125
3	ACVR2A	hsa-miR-16-5p	chr2:148685592-148685615
4	ACVR2A	hsa-miR-192-5p	chr2:148686640-148686647
5	ACVR2A	hsa-miR-29b-3p	chr2:148687373-148687394
6	ACVR2A	hsa-miR-192-5p	chr2:148686444-148686467
7	ACVR2A	hsa-miR-16-5p	chr2:148685345-148685351
8	ACVR2A	hsa-miR-186-5p	chr2:148685890-148685918
9	ACVR2A	hsa-miR-192-5p	chr2:148686627-148686647

Variant related genes	Relation type
ACVR2A	TF binding region
ORC4	TF binding region
MBD5	TF binding region
ENSG00000265049	TF binding region
ACVR2A	CpG island
ORC4	CpG island
MBD5	CpG island
ENSG00000265049	CpG island
ENSG00000151876	chromatin interactions
ENSG00000204406	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000115947	chromatin interactions
ENSG00000135999	chromatin interactions
ENSG00000168394	chromatin interactions
ENSG00000164967	chromatin interactions
ENSG00000092108	chromatin interactions
ENSG00000201558	chromatin interactions

Extended variants
information (count: 5935 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:5935 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556922129	chr2:148668198-148668199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549902555	chr2:148668202-148668203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71430090	chr2:148668211-148668212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540958113	chr2:148668216-148668217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569431053	chr2:148668273-148668274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530331711	chr2:148668310-148668311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548870457	chr2:148668322-148668323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188364643	chr2:148668374-148668375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192307639	chr2:148668411-148668412	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576930601	chr2:148668464-148668465	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558904686	chr2:148668487-148668488	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373759192	chr2:148668508-148668509	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs723681	chr2:148668509-148668510	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538291045	chr2:148668518-148668519	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556248561	chr2:148668553-148668554	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114822609	chr2:148668625-148668626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200811799	chr2:148668720-148668721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541645609	chr2:148668790-148668791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553584923	chr2:148668867-148668868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575087833	chr2:148668895-148668896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376991635	chr2:148668915-148668916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545825135	chr2:148668962-148668963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564061056	chr2:148668984-148668985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531214653	chr2:148669071-148669072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142340415	chr2:148669105-148669106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144568930	chr2:148669109-148669110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184560920	chr2:148669176-148669177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548786848	chr2:148669183-148669184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138788770	chr2:148669184-148669185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574583033	chr2:148669197-148669198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527987464	chr2:148669353-148669354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373711455	chr2:148669377-148669378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552598902	chr2:148669413-148669414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570785232	chr2:148669424-148669425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188484584	chr2:148669429-148669430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370013807	chr2:148669496-148669497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537866593	chr2:148669502-148669503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191848458	chr2:148669552-148669553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568199235	chr2:148669561-148669562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146811538	chr2:148669584-148669585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535591561	chr2:148669595-148669596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546351759	chr2:148669601-148669602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563508464	chr2:148669604-148669605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376375675	chr2:148669623-148669624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1364656	chr2:148669625-148669626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539676334	chr2:148669630-148669631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184293237	chr2:148669639-148669640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575963385	chr2:148669659-148669660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545896090	chr2:148669724-148669725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3768689	chr2:148669774-148669775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3219 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
3	chr2:148642600-148668200	Weak transcription	Psoas Muscle	Psoas
4	chr2:148642800-148668200	Weak transcription	Fetal Lung	lung
5	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:148645800-148671400	Weak transcription	Fetal Heart	heart
9	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:148646600-148668400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:148646600-148671200	Weak transcription	HMEC	breast
12	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
14	chr2:148649600-148674800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:148652800-148693600	Weak transcription	Lung	lung
19	chr2:148653200-148692000	Weak transcription	Ovary	ovary
20	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
21	chr2:148653600-148671000	Weak transcription	Osteobl	bone
22	chr2:148653600-148671400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:148653600-148673400	Weak transcription	HepG2	liver
24	chr2:148653800-148671600	Weak transcription	Fetal Stomach	stomach
25	chr2:148653800-148672800	Weak transcription	Liver	Liver
26	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
27	chr2:148655200-148674800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:148655400-148671600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:148655800-148671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:148655800-148671200	Weak transcription	Fetal Brain Male	brain
31	chr2:148656000-148668800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:148656200-148676800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:148657800-148674400	Weak transcription	Fetal Kidney	kidney
34	chr2:148657800-148674400	Weak transcription	Left Ventricle	heart
35	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:148658000-148668400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:148658000-148671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:148658000-148672600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:148658200-148668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:148658200-148668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:148658200-148668200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:148658600-148670800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:148658600-148674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
45	chr2:148659600-148671000	Weak transcription	Brain Anterior Caudate	brain
46	chr2:148659600-148671000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:148659600-148719800	Weak transcription	Gastric	stomach
48	chr2:148660200-148673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:148661200-148673400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:148661600-148668200	Weak transcription	Adipose Nuclei	Adipose

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