Variant report

Variant	nsv548188
Chromosome Location	chr1:171308832-171371998
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	ARID3A	chr1:171313681-171314019	HepG2	liver:	n/a	n/a
2	ATF1	chr1:171366241-171366405	K562	blood:	n/a	n/a
3	BHLHE40	chr1:171366177-171366387	K562	blood:	n/a	n/a
4	CEBPB	chr1:171351696-171351973	K562	blood:	n/a	n/a
5	CEBPB	chr1:171335118-171335658	MCF-7	breast:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
6	CEBPB	chr1:171335189-171335541	H1-hESC	embryonic stem cell:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
7	CEBPB	chr1:171335179-171335563	K562	blood:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
8	CEBPB	chr1:171341889-171342117	HepG2	liver:	n/a	chr1:171341976-171341987
9	CEBPB	chr1:171341685-171342167	MCF-7	breast:	n/a	chr1:171341976-171341987
10	CEBPB	chr1:171335283-171335439	HepG2	liver:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
11	CEBPB	chr1:171353640-171353830	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:171351551-171351972	A549	lung:	n/a	n/a
13	CEBPB	chr1:171335189-171335548	ECC-1	luminal epithelium:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
14	CEBPB	chr1:171351705-171351986	MCF-7	breast:	n/a	n/a
15	CEBPB	chr1:171335183-171335590	A549	lung:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
16	CEBPB	chr1:171313578-171314025	HepG2	liver:	n/a	chr1:171313802-171313813 chr1:171313821-171313832 chr1:171313800-171313813 chr1:171313800-171313811
17	CEBPB	chr1:171351782-171351891	IMR90	lung:	n/a	n/a
18	CEBPB	chr1:171335206-171335721	A549	lung:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
19	CEBPB	chr1:171335255-171335601	HCT-116	colon:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
20	CEBPB	chr1:171313648-171313945	A549	lung:	n/a	chr1:171313802-171313813 chr1:171313821-171313832 chr1:171313800-171313813 chr1:171313800-171313811
21	CEBPB	chr1:171335176-171335577	IMR90	lung:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
22	CEBPB	chr1:171351737-171351958	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr1:171335191-171335632	MCF-7	breast:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
24	CEBPB	chr1:171313671-171313951	HepG2	liver:	n/a	chr1:171313802-171313813 chr1:171313821-171313832 chr1:171313800-171313813 chr1:171313800-171313811
25	CEBPB	chr1:171335146-171335637	HCT-116	colon:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
26	CEBPB	chr1:171335174-171335582	HepG2	liver:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
27	CEBPB	chr1:171351698-171351969	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:171335235-171335583	A549	lung:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
29	CEBPB	chr1:171335206-171335512	K562	blood:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
30	CEBPB	chr1:171341780-171342220	MCF-7	breast:	n/a	chr1:171341976-171341987
31	CEBPB	chr1:171335249-171335597	ECC-1	luminal epithelium:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
32	CEBPB	chr1:171313640-171314003	HepG2	liver:	n/a	chr1:171313802-171313813 chr1:171313821-171313832 chr1:171313800-171313813 chr1:171313800-171313811
33	CEBPB	chr1:171341847-171342150	K562	blood:	n/a	chr1:171341976-171341987
34	CEBPB	chr1:171313586-171313995	HepG2	liver:	n/a	chr1:171313802-171313813 chr1:171313821-171313832 chr1:171313800-171313813 chr1:171313800-171313811
35	CEBPB	chr1:171335172-171335603	Hela-S3	cervix:	n/a	chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335356-171335367 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335411-171335420 chr1:171335358-171335367 chr1:171335409-171335422
36	CEBPB	chr1:171341823-171342033	H1-hESC	embryonic stem cell:	n/a	chr1:171341976-171341987
37	CEBPB	chr1:171351616-171351951	A549	lung:	n/a	n/a
38	CEBPB	chr1:171341836-171342067	A549	lung:	n/a	chr1:171341976-171341987
39	CEBPD	chr1:171313693-171313929	HepG2	liver:	n/a	n/a
40	CHD2	chr1:171313822-171313830	HepG2	liver:	n/a	n/a
41	CHD2	chr1:171368433-171368668	K562	blood:	n/a	n/a
42	CTCF	chr1:171329400-171329550	HepG2	liver:	n/a	n/a
43	CTCF	chr1:171329436-171329569	NHEK	skin:	n/a	n/a
44	CTCF	chr1:171329308-171329605	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:171329425-171329551	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr1:171366218-171366231	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:171329368-171329589	T-47D	breast:	n/a	n/a
48	CTCF	chr1:171329400-171329550	GM06990	blood:	n/a	n/a
49	CTCF	chr1:171329390-171329596	K562	blood:	n/a	n/a
50	CTCF	chr1:171329440-171329590	RPTEC	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171309093-171309143	GM12878	blood:	n/a
2	chr1:171309093-171309143	HCPEpiC	choroid plexus:	n/a
3	chr1:171309093-171309143	AG04449	skin:	fetal
4	chr1:171309093-171309143	HEK293	kidney:	embryo
5	chr1:171309093-171309143	HL-60	blood:	n/a
6	chr1:171309093-171309143	RPTEC	kidney:	n/a
7	chr1:171309093-171309143	GM12892	blood:	n/a
8	chr1:171309093-171309143	Hela-S3	cervix:	n/a
9	chr1:171309093-171309143	BE2_C	brain:	n/a
10	chr1:171309093-171309143	A549	lung:	n/a
11	chr1:171309093-171309143	SK-N-MC	brain:	n/a
12	chr1:171309093-171309143	SK-N-SH_RA	brain:	n/a
13	chr1:171309093-171309143	GM19239	blood:	n/a
14	chr1:171309093-171309143	HCT-116	colon:	n/a
15	chr1:171309093-171309143	Caco-2	colon:	n/a
16	chr1:171309093-171309143	AG04450	lung:	fetal
17	chr1:171309093-171309143	HAEpiC	amniotic membrane:	n/a
18	chr1:171309093-171309143	NB4	blood:	n/a
19	chr1:171309093-171309143	MCF10A-Er-Src	breast:	n/a
20	chr1:171309093-171309143	HNPCEpiC	eye:	n/a
21	chr1:171309093-171309143	AG09319	gingival:	n/a
22	chr1:171309093-171309143	T-47D	breast:	n/a
23	chr1:171309093-171309143	ProgFib	skin:	n/a
24	chr1:171309093-171309143	HCM	heart:	n/a
25	chr1:171309093-171309143	GM06990	blood:	n/a
26	chr1:171309093-171309143	HEEpiC	esophagus:	n/a
27	chr1:171309093-171309143	HCF	heart:	n/a
28	chr1:171309093-171309143	H1-hESC	embryonic stem cell:	embryo
29	chr1:171309093-171309143	U87	brain:	n/a
30	chr1:171309093-171309143	Hepatocyte	liver:	n/a
31	chr1:171309093-171309143	HRE	kidney:	n/a
32	chr1:171309093-171309143	GM12891	blood:	n/a
33	chr1:171309093-171309143	HRPEpiC	eye:	n/a
34	chr1:171309093-171309143	PFSK-1	brain:	n/a
35	chr1:171309093-171309143	NHBE	bronchial:	n/a
36	chr1:171309093-171309143	IMR90	lung:	fetal
37	chr1:171309093-171309143	MCF-7	breast:	n/a
38	chr1:171309093-171309143	K562	blood:	n/a
39	chr1:171309093-171309143	BJ	skin:	n/a
40	chr1:171309093-171309143	SKMC	muscle:	n/a
41	chr1:171309093-171309143	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:171309093-171309143	AG09309	skin:	n/a
43	chr1:171309093-171309143	PrEC	prostate:	n/a
44	chr1:171309093-171309143	SK-N-SH	brain:	n/a
45	chr1:171309093-171309143	PANC-1	pancreas:	n/a
46	chr1:171309093-171309143	NT2-D1	testis:	n/a
47	chr1:171309093-171309143	AG10803	skin:	n/a
48	chr1:171309093-171309143	ECC-1	luminal epithelium:	n/a
49	chr1:171309093-171309143	HMEC	breast:	n/a
50	chr1:171309093-171309143	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171364064..171365565-chr1:171368281..171370640,2	MCF-7	breast:
2	chr1:171308429..171309488-chr1:171373955..171374861,3	MCF-7	breast:
3	chr1:171336787..171338408-chr1:171339776..171341532,2	MCF-7	breast:
4	chr1:171364064..171365565-chr1:171368281..171370640,2	MCF-7	breast:
5	chr1:171289560..171292319-chr1:171321362..171324920,3	K562	blood:
6	chr1:171336787..171338408-chr1:171339776..171341532,2	MCF-7	breast:
7	chr1:171368098..171369611-chr1:171388402..171390157,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FMO4-3	chr1:171361368-171361929	NONHSAT007527
2	lnc-FMO4-2	chr1:171314228-171314459	NONHSAT007524
3	lnc-MYOC-6	chr1:171314244-171314446	NONHSAT007525
4	lnc-MYOC-5	chr1:171315090-171315408	NONHSAT007526

Variant related genes	Relation type
GM2AP2	TF binding region
TOP1P1	TF binding region
ENSG00000225704	TF binding region
GM2AP2	CpG island
TOP1P1	CpG island
ENSG00000225704	CpG island
ENSG00000076258	chromatin interactions

Extended variants
information (count: 1887 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1887 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2223477	chr1:171308832-171308833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547535989	chr1:171308834-171308835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71635698	chr1:171308850-171308851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565773404	chr1:171308867-171308868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45556934	chr1:171308881-171308882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs45589839	chr1:171308897-171308898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530551371	chr1:171308927-171308928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567767389	chr1:171308979-171308980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373762925	chr1:171308988-171308989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112304338	chr1:171309028-171309029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188751580	chr1:171309049-171309050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs45552638	chr1:171309050-171309051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578169337	chr1:171309077-171309078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12057885	chr1:171309078-171309079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs554319673	chr1:171309151-171309152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567312436	chr1:171309164-171309165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572350980	chr1:171309182-171309183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542305799	chr1:171309200-171309201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs45447795	chr1:171309222-171309223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55809312	chr1:171309248-171309249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575736907	chr1:171309282-171309283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532902589	chr1:171309303-171309304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146261362	chr1:171309310-171309311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532423574	chr1:171309389-171309390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540997332	chr1:171309544-171309545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111790068	chr1:171309547-171309548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553308289	chr1:171309578-171309579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562515231	chr1:171309590-171309591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529871676	chr1:171309603-171309604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12737633	chr1:171309619-171309620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs567732235	chr1:171309705-171309706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142602653	chr1:171309793-171309794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538851866	chr1:171309796-171309797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550131821	chr1:171309862-171309863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571579363	chr1:171309878-171309879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376448141	chr1:171309888-171309889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539314713	chr1:171309907-171309908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554208185	chr1:171310036-171310037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150988379	chr1:171310195-171310196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372946607	chr1:171310285-171310286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569046127	chr1:171310287-171310288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575373263	chr1:171310288-171310289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75519125	chr1:171310297-171310298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76450861	chr1:171310298-171310299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61816092	chr1:171310301-171310302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575699618	chr1:171310314-171310315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139503459	chr1:171310406-171310407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558506876	chr1:171310413-171310414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557415441	chr1:171310416-171310417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576813212	chr1:171310432-171310433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171284000-171312200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:171284200-171313600	Weak transcription	Right Ventricle	heart
3	chr1:171284200-171313800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:171286800-171309200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:171288400-171313000	Weak transcription	Gastric	stomach
6	chr1:171288600-171312400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:171289400-171309600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:171289400-171313400	Weak transcription	Fetal Lung	lung
9	chr1:171289600-171309000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:171289600-171309000	Weak transcription	Pancreas	Pancrea
11	chr1:171289600-171313000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:171289800-171309000	Weak transcription	Spleen	Spleen
13	chr1:171289800-171309200	Weak transcription	Left Ventricle	heart
14	chr1:171289800-171312600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:171289800-171313000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:171290000-171309200	Weak transcription	Ovary	ovary
17	chr1:171299200-171312400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:171299800-171314200	Weak transcription	Aorta	Aorta
19	chr1:171302400-171313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:171302800-171313000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:171305600-171315200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:171308400-171311600	Weak transcription	Liver	Liver
23	chr1:171311600-171312400	Enhancers	Liver	Liver
24	chr1:171312200-171313000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:171312400-171312600	Flanking Active TSS	Liver	Liver
26	chr1:171312400-171314400	Enhancers	Fetal Intestine Small	intestine
27	chr1:171312600-171313000	Enhancers	Liver	Liver
28	chr1:171312800-171315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:171313000-171313200	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:171313000-171313200	Enhancers	Gastric	stomach
31	chr1:171313000-171313400	Enhancers	Adipose Nuclei	Adipose
32	chr1:171313000-171313400	Enhancers	Right Atrium	heart
33	chr1:171313000-171313800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:171313000-171313800	Flanking Active TSS	Liver	Liver
35	chr1:171313000-171313800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:171313000-171314200	Enhancers	HepG2	liver
37	chr1:171313000-171314600	Enhancers	Fetal Intestine Large	intestine
38	chr1:171313200-171313600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:171313200-171313800	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:171313400-171313600	Enhancers	Fetal Lung	lung
41	chr1:171313400-171313800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:171313600-171313800	Enhancers	Right Ventricle	heart
43	chr1:171313800-171314400	Enhancers	Adipose Nuclei	Adipose
44	chr1:171313800-171314400	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:171313800-171314400	Enhancers	NHLF	lung
46	chr1:171313800-171315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:171313800-171315400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:171313800-171315600	Enhancers	Liver	Liver
49	chr1:171314000-171314200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:171314200-171314400	Enhancers	Aorta	Aorta

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