Variant report

Variant	nsv535978
Chromosome Location	chr2:148780080-148869729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:183)
Chromatin interactive
region (count:45)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:148810230-148810584	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:148779891-148780131	K562	blood:	n/a	n/a
3	ARID3A	chr2:148780420-148780619	K562	blood:	n/a	n/a
4	ATF2	chr2:148805766-148807114	GM12878	blood:	n/a	n/a
5	ATF2	chr2:148805695-148807140	GM12878	blood:	n/a	n/a
6	ATF2	chr2:148799549-148800235	GM12878	blood:	n/a	n/a
7	ATF2	chr2:148799610-148800244	GM12878	blood:	n/a	n/a
8	BATF	chr2:148799707-148800070	GM12878	blood:	n/a	chr2:148799907-148799918
9	BATF	chr2:148803827-148804138	GM12878	blood:	n/a	n/a
10	BATF	chr2:148803918-148804156	GM12878	blood:	n/a	n/a
11	BATF	chr2:148806449-148806848	GM12878	blood:	n/a	chr2:148806614-148806625
12	BATF	chr2:148789167-148789394	GM12878	blood:	n/a	n/a
13	BATF	chr2:148806259-148806907	GM12878	blood:	n/a	chr2:148806614-148806625
14	BATF	chr2:148799772-148800076	GM12878	blood:	n/a	chr2:148799907-148799918
15	BCL11A	chr2:148799845-148800073	GM12878	blood:	n/a	chr2:148800002-148800011
16	BCL11A	chr2:148806525-148806767	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:148806110-148806885	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:148799776-148800128	GM12878	blood:	n/a	chr2:148800002-148800011
19	BCL3	chr2:148799732-148800218	GM12878	blood:	n/a	chr2:148800002-148800011
20	BCL3	chr2:148805871-148806863	GM12878	blood:	n/a	n/a
21	BCLAF1	chr2:148805628-148807044	GM12878	blood:	n/a	n/a
22	BCLAF1	chr2:148799725-148800084	GM12878	blood:	n/a	chr2:148800002-148800011
23	BCLAF1	chr2:148806074-148806967	GM12878	blood:	n/a	n/a
24	BCLAF1	chr2:148799581-148800151	GM12878	blood:	n/a	chr2:148800002-148800011
25	BHLHE40	chr2:148805899-148807141	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:148842666-148842699	A549	lung:	n/a	n/a
27	BHLHE40	chr2:148783631-148783811	K562	blood:	n/a	n/a
28	CEBPB	chr2:148819163-148819296	A549	lung:	n/a	n/a
29	CEBPB	chr2:148843505-148843790	A549	lung:	n/a	chr2:148843670-148843681
30	CEBPB	chr2:148843530-148843819	K562	blood:	n/a	chr2:148843670-148843681
31	CEBPB	chr2:148866822-148867096	HepG2	liver:	n/a	chr2:148866944-148866955 chr2:148866987-148866998
32	CEBPB	chr2:148805647-148806991	GM12878	blood:	n/a	n/a
33	CEBPB	chr2:148866822-148867113	A549	lung:	n/a	chr2:148866944-148866955 chr2:148866987-148866998
34	CEBPB	chr2:148844958-148845226	HepG2	liver:	n/a	chr2:148845095-148845106
35	CEBPB	chr2:148843492-148843803	IMR90	lung:	n/a	chr2:148843670-148843681
36	CEBPB	chr2:148866839-148867099	K562	blood:	n/a	chr2:148866944-148866955 chr2:148866987-148866998
37	CEBPB	chr2:148810316-148810621	HepG2	liver:	n/a	n/a
38	CEBPB	chr2:148843497-148843822	HepG2	liver:	n/a	chr2:148843670-148843681
39	CHD1	chr2:148807463-148807573	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr2:148799769-148800115	GM12878	blood:	n/a	n/a
41	CHD2	chr2:148806057-148806881	GM12878	blood:	n/a	n/a
42	CREB1	chr2:148805881-148807159	GM12878	blood:	n/a	n/a
43	CREB1	chr2:148799683-148800196	GM12878	blood:	n/a	n/a
44	CTCF	chr2:148806460-148806610	GM12875	blood:	n/a	n/a
45	CTCF	chr2:148853840-148853990	AG09309	skin:	n/a	n/a
46	CTCF	chr2:148853837-148853981	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:148868620-148868770	HCM	heart:	n/a	n/a
48	CTCF	chr2:148853800-148853950	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr2:148853720-148853870	HCFaa	heart:	n/a	n/a
50	CTCF	chr2:148834900-148835050	HCM	heart:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:148782427-148782477	HCF	heart:	n/a
2	chr2:148839265-148839315	Jurkat	blood:	n/a
3	chr2:148839265-148839315	HEEpiC	esophagus:	n/a
4	chr2:148815999-148816049	HCF	heart:	n/a
5	chr2:148815999-148816049	HCM	heart:	n/a
6	chr2:148782427-148782477	NHDF-neo	bronchial:	n/a
7	chr2:148782427-148782477	HRE	kidney:	n/a
8	chr2:148782427-148782477	NB4	blood:	n/a
9	chr2:148782427-148782477	BJ	skin:	n/a
10	chr2:148839265-148839315	HRE	kidney:	n/a
11	chr2:148815999-148816049	NHDF-neo	bronchial:	n/a
12	chr2:148815999-148816049	K562	blood:	n/a
13	chr2:148815999-148816049	SAEC	small airway:	n/a
14	chr2:148782427-148782477	SAEC	small airway:	n/a
15	chr2:148815999-148816049	SK-N-SH_RA	brain:	n/a
16	chr2:148782427-148782477	LNCaP	prostate:	n/a
17	chr2:148839265-148839315	Caco-2	colon:	n/a
18	chr2:148815999-148816049	BJ	skin:	n/a
19	chr2:148839265-148839315	NH-A	brain:	n/a
20	chr2:148839265-148839315	SKMC	muscle:	n/a
21	chr2:148782427-148782477	H1-hESC	embryonic stem cell:	embryo
22	chr2:148782427-148782477	A549	lung:	n/a
23	chr2:148782427-148782477	GM12878	blood:	n/a
24	chr2:148839265-148839315	Hepatocyte	liver:	n/a
25	chr2:148815999-148816049	NB4	blood:	n/a
26	chr2:148815999-148816049	SK-N-SH	brain:	n/a
27	chr2:148782427-148782477	IMR90	lung:	fetal
28	chr2:148782427-148782477	HCPEpiC	choroid plexus:	n/a
29	chr2:148839265-148839315	HepG2	liver:	n/a
30	chr2:148815999-148816049	U87	brain:	n/a
31	chr2:148782427-148782477	ProgFib	skin:	n/a
32	chr2:148815999-148816049	HEEpiC	esophagus:	n/a
33	chr2:148782427-148782477	AoSMC	blood vessel:	n/a
34	chr2:148782427-148782477	HEEpiC	esophagus:	n/a
35	chr2:148839265-148839315	HCT-116	colon:	n/a
36	chr2:148839265-148839315	AG10803	skin:	n/a
37	chr2:148815999-148816049	HAEpiC	amniotic membrane:	n/a
38	chr2:148839265-148839315	NHBE	bronchial:	n/a
39	chr2:148782427-148782477	HUVEC	blood vessel:	n/a
40	chr2:148782427-148782477	HNPCEpiC	eye:	n/a
41	chr2:148839265-148839315	HIPEpiC	eye:	n/a
42	chr2:148839265-148839315	ECC-1	luminal epithelium:	n/a
43	chr2:148815999-148816049	NT2-D1	testis:	n/a
44	chr2:148815999-148816049	CMK	blood:	n/a
45	chr2:148815999-148816049	SK-N-MC	brain:	n/a
46	chr2:148839265-148839315	PFSK-1	brain:	n/a
47	chr2:148815999-148816049	A549	lung:	n/a
48	chr2:148815999-148816049	BE2_C	brain:	n/a
49	chr2:148839265-148839315	MCF-7	breast:	n/a
50	chr2:148782427-148782477	Hela-S3	cervix:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:148852527..148854088-chr2:148860647..148862456,2	MCF-7	breast:
2	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
3	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
4	chr2:148790987..148792533-chr2:148818638..148820263,2	K562	blood:
5	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
6	chr2:148773879..148776006-chr2:148779968..148781591,2	MCF-7	breast:
7	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
8	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:
9	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
10	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
11	chr2:148782652..148784833-chr2:148785431..148787188,2	MCF-7	breast:
12	chr2:148777400..148781221-chr2:148785788..148788815,4	MCF-7	breast:
13	chr2:148790987..148792533-chr2:148818638..148820263,2	K562	blood:
14	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
15	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
16	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:
17	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:
18	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
19	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
20	chr2:148796353..148798191-chr2:148802415..148804582,2	K562	blood:
21	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
22	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
23	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
24	chr2:148778014..148780334-chr2:148791954..148794463,2	K562	blood:
25	chr2:148793989..148796591-chr2:148815417..148817298,2	K562	blood:
26	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:
27	chr2:148826768..148827504-chr6:20350150..20350710,2	MCF-7	breast:
28	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
29	chr2:148777810..148780521-chr2:149401501..149403816,2	MCF-7	breast:
30	chr2:148818705..148820589-chr2:148824017..148825657,2	MCF-7	breast:
31	chr2:148782652..148784833-chr2:148785431..148787188,2	MCF-7	breast:
32	chr2:148796353..148798191-chr2:148802415..148804582,2	K562	blood:
33	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:
34	chr2:148818705..148820589-chr2:148824017..148825657,2	MCF-7	breast:
35	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:
36	chr2:148852527..148854088-chr2:148860647..148862456,2	MCF-7	breast:
37	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
38	chr2:148793989..148796591-chr2:148815417..148817298,2	K562	blood:
39	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
40	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
41	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
42	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
43	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
44	chr2:148747178..148748066-chr2:148853587..148854325,3	MCF-7	breast:
45	chr2:148776962..148779896-chr2:148780492..148782888,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148798775-148798934	NONHSAT074876
2	lnc-MBD5-1	chr2:148781621-148781743	NONHSAT074877
3	lnc-MBD5-1	chr2:148782535-148782771	NONHSAT074877
4	lnc-MBD5-1	chr2:148811960-148812018	NONHSAT074874
5	lnc-MBD5-1	chr2:148826141-148826162	NONHSAT074878
6	lnc-MBD5-1	chr2:148782535-148782627	NONHSAT074873

No data

Variant related genes	Relation type
ORC4	TF binding region
MBD5	TF binding region
ORC4	CpG island
MBD5	CpG island
ENSG00000115947	chromatin interactions
ENSG00000204406	chromatin interactions
ENSG00000135999	chromatin interactions

Extended variants
information (count: 2859 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2859 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529677505	chr2:148780130-148780131	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536305293	chr2:148780161-148780162	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541441434	chr2:148780260-148780261	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182078058	chr2:148780312-148780313	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527385437	chr2:148780377-148780378	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554490110	chr2:148780434-148780435	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546838879	chr2:148780449-148780450	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186053016	chr2:148780537-148780538	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs548997101	chr2:148780550-148780551	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532672846	chr2:148780570-148780571	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs577219056	chr2:148780581-148780582	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569585616	chr2:148780632-148780633	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs543388531	chr2:148780633-148780634	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536619310	chr2:148780636-148780637	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs78591711	chr2:148780669-148780670	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373815219	chr2:148780697-148780698	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs555003740	chr2:148780702-148780703	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs566927997	chr2:148780720-148780721	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373480700	chr2:148780760-148780761	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs534340812	chr2:148780843-148780844	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs558473198	chr2:148780883-148780884	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs35377664	chr2:148780903-148780904	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs191660118	chr2:148780906-148780907	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs576998169	chr2:148780921-148780922	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs17749814	chr2:148780956-148780957	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs556006010	chr2:148780982-148780983	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs574414624	chr2:148780987-148780988	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs541378116	chr2:148781116-148781117	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs181725230	chr2:148781162-148781163	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs186390242	chr2:148781304-148781305	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191234923	chr2:148781321-148781322	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560077149	chr2:148781336-148781337	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545910633	chr2:148781353-148781354	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565320714	chr2:148781368-148781369	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182158485	chr2:148781402-148781403	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs551216232	chr2:148781404-148781405	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs563126237	chr2:148781421-148781422	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530424873	chr2:148781471-148781472	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs79155403	chr2:148781544-148781545	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs186762109	chr2:148781629-148781630	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs151212679	chr2:148781644-148781645	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs552675306	chr2:148781655-148781656	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs140113311	chr2:148781684-148781685	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs190888818	chr2:148781775-148781776	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555944498	chr2:148782093-148782094	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574350816	chr2:148782100-148782101	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs535401159	chr2:148782181-148782182	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150286825	chr2:148782237-148782238	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572041825	chr2:148782330-148782331	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs545495998	chr2:148782331-148782332	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148774800-148782400	Active TSS	GM12878-XiMat	blood
2	chr2:148775400-148781000	Active TSS	K562	blood
3	chr2:148775600-148781200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:148775800-148780400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:148775800-148780400	Active TSS	Fetal Kidney	kidney
6	chr2:148776200-148780200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:148776200-148780400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:148776200-148780600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:148776400-148780400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr2:148776400-148780600	Active TSS	A549	lung
11	chr2:148776400-148780800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:148776400-148781600	Active TSS	NHLF	lung
13	chr2:148776600-148780200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:148776600-148780600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:148776600-148780600	Active TSS	Brain Germinal Matrix	brain
16	chr2:148776600-148780800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:148776600-148781400	Active TSS	NHDF-Ad	bronchial
18	chr2:148776800-148780200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:148776800-148780200	Active TSS	Fetal Intestine Small	intestine
20	chr2:148776800-148780200	Active TSS	Fetal Lung	lung
21	chr2:148776800-148780200	Active TSS	Hela-S3	cervix
22	chr2:148776800-148780400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:148776800-148780600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:148776800-148780600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:148776800-148780600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:148776800-148781000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:148776800-148781200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:148777000-148780200	Active TSS	Right Atrium	heart
29	chr2:148777000-148780400	Active TSS	HSMM	muscle
30	chr2:148777000-148780400	Active TSS	NHEK	skin
31	chr2:148777000-148780600	Active TSS	Thymus	Thymus
32	chr2:148777000-148780800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:148777000-148781200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:148777000-148781400	Active TSS	HMEC	breast
35	chr2:148777200-148780200	Active TSS	HSMMtube	muscle
36	chr2:148777200-148780400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:148777200-148780400	Active TSS	Fetal Stomach	stomach
38	chr2:148777200-148781000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:148777200-148781200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:148777400-148780200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:148777600-148780200	Active TSS	Brain Hippocampus Middle	brain
42	chr2:148777600-148782200	Active TSS	Stomach Smooth Muscle	stomach
43	chr2:148777800-148780200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:148777800-148780400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr2:148777800-148780400	Active TSS	Brain Anterior Caudate	brain
46	chr2:148777800-148780600	Active TSS	Fetal Thymus	thymus
47	chr2:148778000-148780400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:148778200-148780200	Active TSS	Rectal Smooth Muscle	rectum
49	chr2:148778200-148780600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:148778400-148780200	Active TSS	Skeletal Muscle Female	skeletal muscle

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