Variant report

Variant	nsv1012523
Chromosome Location	chr2:66919704-66961372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:66932834-66933078	A549	lung:	n/a	chr2:66932930-66932941
2	CEBPB	chr2:66955095-66955242	HepG2	liver:	n/a	chr2:66955174-66955185
3	CEBPB	chr2:66932921-66933040	K562	blood:	n/a	chr2:66932930-66932941
4	CEBPB	chr2:66921231-66921565	Hela-S3	cervix:	n/a	chr2:66921402-66921415 chr2:66921402-66921413 chr2:66921403-66921414 chr2:66921402-66921413 chr2:66921402-66921415
5	CEBPB	chr2:66951267-66951470	HepG2	liver:	n/a	chr2:66951387-66951398
6	CEBPB	chr2:66932826-66933111	IMR90	lung:	n/a	chr2:66932930-66932941
7	CEBPB	chr2:66921279-66921564	K562	blood:	n/a	chr2:66921402-66921415 chr2:66921402-66921413 chr2:66921403-66921414 chr2:66921402-66921413 chr2:66921402-66921415
8	CEBPB	chr2:66921255-66921538	IMR90	lung:	n/a	chr2:66921402-66921415 chr2:66921402-66921413 chr2:66921403-66921414 chr2:66921402-66921413 chr2:66921402-66921415
9	CEBPB	chr2:66921195-66921562	MCF-7	breast:	n/a	chr2:66921402-66921415 chr2:66921402-66921413 chr2:66921403-66921414 chr2:66921402-66921413 chr2:66921402-66921415
10	CEBPB	chr2:66932802-66933093	HepG2	liver:	n/a	chr2:66932930-66932941
11	CEBPB	chr2:66921230-66921515	H1-hESC	embryonic stem cell:	n/a	chr2:66921402-66921415 chr2:66921402-66921413 chr2:66921403-66921414 chr2:66921402-66921413 chr2:66921402-66921415
12	CEBPB	chr2:66921244-66921514	HepG2	liver:	n/a	chr2:66921402-66921415 chr2:66921402-66921413 chr2:66921403-66921414 chr2:66921402-66921413 chr2:66921402-66921415
13	CTCF	chr2:66948320-66948470	Caco-2	colon:	n/a	n/a
14	CTCF	chr2:66940883-66940906	GM10248	blood:	n/a	n/a
15	CTCF	chr2:66957160-66957310	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr2:66956520-66956670	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr2:66940135-66940167	Lung_OC	lung:	n/a	n/a
18	CTCF	chr2:66939520-66939670	GM12878	blood:	n/a	n/a
19	CTCF	chr2:66936720-66936870	GM12867	blood:	n/a	n/a
20	CTCF	chr2:66938960-66939110	HAc	cerebellar:	n/a	n/a
21	EP300	chr2:66925031-66928313	SK-N-SH	brain:	n/a	chr2:66926717-66926731 chr2:66926493-66926503 chr2:66926716-66926730 chr2:66928208-66928216 chr2:66926715-66926729 chr2:66925228-66925238 chr2:66928286-66928300 chr2:66925797-66925804 chr2:66927928-66927935
22	EP300	chr2:66932571-66932593	HepG2	liver:	n/a	n/a
23	EP300	chr2:66925198-66925609	SK-N-SH_RA	brain:	n/a	chr2:66925228-66925238
24	EP300	chr2:66926874-66927517	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr2:66927197-66927602	SK-N-SH_RA	brain:	n/a	n/a
26	FOS	chr2:66944789-66944860	MCF10A-Er-Src	breast:	n/a	chr2:66944810-66944818 chr2:66944808-66944820
27	FOXA1	chr2:66927443-66927751	ECC-1	luminal epithelium:	n/a	n/a
28	GATA2	chr2:66923596-66923787	SH-SY5Y	brain:	n/a	n/a
29	GATA2	chr2:66926838-66927542	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr2:66953505-66953634	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr2:66931770-66932225	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr2:66926241-66926659	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr2:66926275-66926787	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr2:66926248-66927316	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr2:66927291-66927912	MCF-7	breast:	n/a	n/a
36	JUN	chr2:66928529-66928729	HepG2	liver:	n/a	chr2:66928609-66928618 chr2:66928608-66928621
37	JUND	chr2:66928433-66928738	HepG2	liver:	n/a	chr2:66928609-66928618
38	KAP1	chr2:66923492-66923918	HEK293	kidney:	n/a	n/a
39	KAP1	chr2:66926887-66927770	HEK293	kidney:	n/a	n/a
40	KAP1	chr2:66923591-66924057	U2OS	brain:	n/a	n/a
41	KAP1	chr2:66920816-66921523	U2OS	brain:	n/a	n/a
42	MAFF	chr2:66948132-66948392	HepG2	liver:	n/a	n/a
43	MAFK	chr2:66956997-66957110	HepG2	liver:	n/a	n/a
44	MAFK	chr2:66928101-66928195	H1-hESC	embryonic stem cell:	n/a	chr2:66928159-66928170
45	MAFK	chr2:66948095-66948399	HepG2	liver:	n/a	chr2:66948247-66948258 chr2:66948245-66948259 chr2:66948242-66948258
46	MAFK	chr2:66948122-66948345	HepG2	liver:	n/a	chr2:66948247-66948258 chr2:66948245-66948259 chr2:66948242-66948258
47	MAFK	chr2:66956094-66956252	HepG2	liver:	n/a	chr2:66956138-66956154 chr2:66956136-66956156
48	MAFK	chr2:66957159-66957160	HepG2	liver:	n/a	n/a
49	MAX	chr2:66945115-66945507	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr2:66945140-66945428	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:66957156-66957206	HEK293	kidney:	embryo
2	chr2:66926669-66926719	HCPEpiC	choroid plexus:	n/a
3	chr2:66926669-66926719	BE2_C	brain:	n/a
4	chr2:66924409-66924459	SKMC	muscle:	n/a
5	chr2:66957156-66957206	NH-A	brain:	n/a
6	chr2:66926669-66926719	NHDF-neo	bronchial:	n/a
7	chr2:66957156-66957206	BE2_C	brain:	n/a
8	chr2:66924409-66924459	GM19239	blood:	n/a
9	chr2:66957156-66957206	HRE	kidney:	n/a
10	chr2:66926669-66926719	GM12891	blood:	n/a
11	chr2:66957156-66957206	ProgFib	skin:	n/a
12	chr2:66924409-66924459	IMR90	lung:	fetal
13	chr2:66957156-66957206	CMK	blood:	n/a
14	chr2:66957156-66957206	PANC-1	pancreas:	n/a
15	chr2:66957156-66957206	PFSK-1	brain:	n/a
16	chr2:66926669-66926719	NH-A	brain:	n/a
17	chr2:66926669-66926719	ECC-1	luminal epithelium:	n/a
18	chr2:66926669-66926719	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:66957156-66957206	PrEC	prostate:	n/a
20	chr2:66924409-66924459	NT2-D1	testis:	n/a
21	chr2:66926669-66926719	GM12892	blood:	n/a
22	chr2:66957156-66957206	AG10803	skin:	n/a
23	chr2:66924409-66924459	HRPEpiC	eye:	n/a
24	chr2:66926669-66926719	HIPEpiC	eye:	n/a
25	chr2:66924409-66924459	SK-N-MC	brain:	n/a
26	chr2:66924409-66924459	HCF	heart:	n/a
27	chr2:66926669-66926719	Hepatocyte	liver:	n/a
28	chr2:66924409-66924459	MCF10A-Er-Src	breast:	n/a
29	chr2:66957156-66957206	U87	brain:	n/a
30	chr2:66924409-66924459	U87	brain:	n/a
31	chr2:66926669-66926719	PANC-1	pancreas:	n/a
32	chr2:66924409-66924459	Jurkat	blood:	n/a
33	chr2:66926669-66926719	ProgFib	skin:	n/a
34	chr2:66924409-66924459	HL-60	blood:	n/a
35	chr2:66957156-66957206	NHBE	bronchial:	n/a
36	chr2:66926669-66926719	Jurkat	blood:	n/a
37	chr2:66924409-66924459	ProgFib	skin:	n/a
38	chr2:66926669-66926719	SK-N-SH	brain:	n/a
39	chr2:66957156-66957206	H1-hESC	embryonic stem cell:	embryo
40	chr2:66957156-66957206	ovcar-3	ovarian:	n/a
41	chr2:66926669-66926719	AoSMC	blood vessel:	n/a
42	chr2:66924409-66924459	HRE	kidney:	n/a
43	chr2:66926669-66926719	HRE	kidney:	n/a
44	chr2:66924409-66924459	SK-N-SH_RA	brain:	n/a
45	chr2:66957156-66957206	Caco-2	colon:	n/a
46	chr2:66924409-66924459	ECC-1	luminal epithelium:	n/a
47	chr2:66924409-66924459	NHDF-neo	bronchial:	n/a
48	chr2:66926669-66926719	HepG2	liver:	n/a
49	chr2:66926669-66926719	AG09319	gingival:	n/a
50	chr2:66924409-66924459	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:66922412..66924647-chr2:66925905..66928525,2	MCF-7	breast:
2	chr2:66925937..66928406-chr2:66932808..66935703,2	MCF-7	breast:
3	chr2:66925937..66928406-chr2:66932808..66935703,2	MCF-7	breast:
4	chr2:66919319..66922022-chr2:66923569..66925465,2	K562	blood:
5	chr2:66939751..66942295-chr2:66944514..66947455,2	K562	blood:
6	chr2:66924129..66926148-chr2:66928849..66931547,2	K562	blood:
7	chr2:66915478..66917082-chr2:66920973..66923826,2	MCF-7	breast:
8	chr2:66922412..66924647-chr2:66925905..66928525,2	MCF-7	breast:
9	chr2:66905064..66907214-chr2:66920521..66923497,2	MCF-7	breast:
10	chr2:66939751..66942295-chr2:66944514..66947455,2	K562	blood:
11	chr2:66919319..66922022-chr2:66923569..66925465,2	K562	blood:
12	chr16:88876850..88878573-chr2:66934490..66936924,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRED2-7	chr2:66927043-66927240	XLOC_002140
2	lnc-SPRED2-7	chr2:66924294-66924427	XLOC_002140
3	lnc-SPRED2-7	chr2:66927043-66927240	NR_110265
4	lnc-MEIS1-3	chr2:66924580-66924635	XLOC_001508
5	lnc-SPRED2-7	chr2:66930250-66930329	XLOC_002140
6	lnc-MEIS1-3	chr2:66940582-66940673	XLOC_001508
7	lnc-SPRED2-7	chr2:66924257-66924427	XLOC_002140
8	lnc-MEIS1-3	chr2:66922335-66922715	XLOC_001508
9	lnc-SPRED2-7	chr2:66924162-66924427	NR_110265
10	lnc-MEIS1-3	chr2:66918804-66921094	XLOC_001508
11	lnc-SPRED2-7	chr2:66927043-66927526	NR_110264
12	lnc-SPRED2-7	chr2:66930250-66930359	XLOC_002140
13	lnc-MEIS1-3	chr2:66922335-66922713	XLOC_001508
14	lnc-SPRED2-7	chr2:66930250-66930359	NR_110265
15	lnc-MEIS1-3	chr2:66924580-66924635	XLOC_001508
16	lnc-MEIS1-3	chr2:66923662-66923859	NONHSAT071240
17	lnc-SPRED2-7	chr2:66927043-66927526	XLOC_002140
18	lnc-MEIS1-3	chr2:66942527-66942762	XLOC_001508
19	lnc-MEIS1-3	chr2:66922335-66922720	NR_110156
20	lnc-SPRED2-7	chr2:66924290-66924427	XLOC_002140
21	lnc-MEIS1-3	chr2:66957071-66957289	XLOC_001508
22	lnc-MEIS1-3	chr2:66922335-66922597	ENSG00000232046
23	lnc-MEIS1-3	chr2:66922335-66922637	ENSG00000232046
24	lnc-SPRED2-7	chr2:66930250-66930329	XLOC_002140
25	lnc-SPRED2-7	chr2:66930250-66930359	NR_110264
26	lnc-SPRED2-7	chr2:66924162-66924427	NR_110264
27	lnc-MEIS1-3	chr2:66940582-66940673	XLOC_001508

Variant related genes	Relation type
ENSG00000237179	TF binding region
ENSG00000237179	CpG island
ENSG00000232046	chromatin interactions
ENSG00000237179	chromatin interactions
ENSG00000198931	chromatin interactions
NCOA3	miRNA target sites
HMGA2	miRNA target sites
BCL2L11	miRNA target sites

Extended variants
information (count: 1462 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1014299	chr2:66919704-66919705	Weak transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371082863	chr2:66919715-66919716	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs556696163	chr2:66919736-66919737	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569488986	chr2:66919771-66919772	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576841809	chr2:66919803-66919804	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs535392962	chr2:66919859-66919860	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545494735	chr2:66919877-66919878	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs558683985	chr2:66919934-66919935	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs572203238	chr2:66919954-66919955	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs534622510	chr2:66919965-66919966	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149714625	chr2:66920023-66920024	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs111919766	chr2:66920024-66920025	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs145533029	chr2:66920025-66920026	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188981154	chr2:66920071-66920072	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543522124	chr2:66920142-66920143	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs180936691	chr2:66920145-66920146	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs148849000	chr2:66920170-66920171	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs143991990	chr2:66920204-66920205	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs374309758	chr2:66920210-66920211	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs372274102	chr2:66920271-66920272	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs541273726	chr2:66920360-66920361	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570362161	chr2:66920417-66920418	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs370591946	chr2:66920424-66920425	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs56045013	chr2:66920425-66920426	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs184028487	chr2:66920503-66920504	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs561604801	chr2:66920511-66920512	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146411251	chr2:66920556-66920557	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs12994238	chr2:66920700-66920701	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188762111	chr2:66920709-66920710	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs530937693	chr2:66920717-66920718	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs6546260	chr2:66920774-66920775	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567386121	chr2:66920778-66920779	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs529058839	chr2:66920802-66920803	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs145148607	chr2:66920848-66920849	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs181367536	chr2:66920851-66920852	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534611921	chr2:66920903-66920904	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs557763974	chr2:66920927-66920928	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs79385266	chr2:66920959-66920960	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs148371457	chr2:66920968-66920969	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557116060	chr2:66920971-66920972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs556460331	chr2:66921089-66921090	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs563537253	chr2:66921134-66921135	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186036823	chr2:66921144-66921145	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553281213	chr2:66921172-66921173	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370496424	chr2:66921200-66921201	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192053510	chr2:66921204-66921205	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573528229	chr2:66921221-66921222	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545352431	chr2:66921297-66921298	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374111843	chr2:66921352-66921353	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368216511	chr2:66921428-66921429	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66917000-66922600	Active TSS	Colon Smooth Muscle	Colon
2	chr2:66917400-66920800	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:66917600-66920600	Active TSS	Fetal Kidney	kidney
4	chr2:66917600-66921400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:66917600-66921600	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:66917600-66922400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:66918000-66921200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:66918200-66920200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr2:66918200-66920600	Active TSS	Fetal Intestine Small	intestine
10	chr2:66918200-66921000	Active TSS	Fetal Lung	lung
11	chr2:66918200-66921200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:66918200-66921400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:66918200-66921400	Active TSS	Fetal Stomach	stomach
14	chr2:66918400-66920600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:66918800-66920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:66918800-66920400	Active TSS	Fetal Intestine Large	intestine
17	chr2:66919000-66921000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:66919000-66921800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:66919000-66927000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:66919200-66920200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:66919200-66920200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:66919200-66921600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:66919200-66925200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:66919200-66927200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:66919200-66929000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:66919400-66920000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:66920000-66920800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:66920200-66920400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:66920200-66920600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:66920200-66920800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:66920200-66920800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:66920200-66921600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:66920400-66920600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:66920400-66925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:66920400-66927000	Weak transcription	Fetal Intestine Large	intestine
36	chr2:66920600-66921000	Bivalent/Poised TSS	Fetal Brain Male	brain
37	chr2:66920600-66921200	Flanking Active TSS	Fetal Kidney	kidney
38	chr2:66920600-66921800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:66920600-66922200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:66920600-66925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:66920800-66921200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:66920800-66921200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:66920800-66921400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:66920800-66922400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:66921000-66921400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:66921000-66923400	Enhancers	Fetal Lung	lung
47	chr2:66921200-66921400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:66921200-66921400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:66921200-66922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:66921200-66926800	Enhancers	Fetal Kidney	kidney

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