Variant report

Variant	nsv1033788
Chromosome Location	chr5:101227917-101378215
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	ATF1	chr5:101236378-101236518	K562	blood:	n/a	n/a
2	ATF1	chr5:101338849-101338931	K562	blood:	n/a	n/a
3	BHLHE40	chr5:101313640-101313757	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:101230716-101231013	ECC-1	luminal epithelium:	n/a	chr5:101230870-101230879 chr5:101230868-101230881 chr5:101230868-101230881 chr5:101230870-101230879 chr5:101230870-101230879 chr5:101230869-101230880
5	CEBPB	chr5:101368447-101368563	H1-hESC	embryonic stem cell:	n/a	chr5:101368460-101368473 chr5:101368460-101368471 chr5:101368460-101368473 chr5:101368462-101368473
6	CEBPB	chr5:101323591-101323733	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr5:101368294-101368640	HepG2	liver:	n/a	chr5:101368460-101368473 chr5:101368460-101368471 chr5:101368460-101368473 chr5:101368462-101368473
8	CEBPB	chr5:101230709-101231058	HepG2	liver:	n/a	chr5:101230870-101230879 chr5:101230868-101230881 chr5:101230868-101230881 chr5:101231019-101231031 chr5:101230870-101230879 chr5:101230870-101230879 chr5:101230869-101230880
9	CEBPB	chr5:101240546-101240711	K562	blood:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
10	CEBPB	chr5:101310922-101310941	A549	lung:	n/a	n/a
11	CEBPB	chr5:101230700-101231060	IMR90	lung:	n/a	chr5:101230870-101230879 chr5:101230868-101230881 chr5:101230868-101230881 chr5:101231019-101231031 chr5:101230870-101230879 chr5:101230870-101230879 chr5:101230869-101230880
12	CEBPB	chr5:101240483-101240827	ECC-1	luminal epithelium:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
13	CEBPB	chr5:101230716-101231019	K562	blood:	n/a	chr5:101230870-101230879 chr5:101230868-101230881 chr5:101230868-101230881 chr5:101230870-101230879 chr5:101230870-101230879 chr5:101230869-101230880
14	CEBPB	chr5:101373464-101373634	HepG2	liver:	n/a	chr5:101373550-101373561
15	CEBPB	chr5:101368319-101368603	Hela-S3	cervix:	n/a	chr5:101368460-101368473 chr5:101368460-101368471 chr5:101368460-101368473 chr5:101368462-101368473
16	CEBPB	chr5:101240532-101240819	Hela-S3	cervix:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
17	CEBPB	chr5:101240441-101240860	ECC-1	luminal epithelium:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
18	CEBPB	chr5:101368313-101368639	IMR90	lung:	n/a	chr5:101368460-101368473 chr5:101368460-101368471 chr5:101368460-101368473 chr5:101368462-101368473
19	CEBPB	chr5:101240459-101240842	HepG2	liver:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
20	CEBPB	chr5:101230712-101231045	H1-hESC	embryonic stem cell:	n/a	chr5:101230870-101230879 chr5:101230868-101230881 chr5:101230868-101230881 chr5:101231019-101231031 chr5:101230870-101230879 chr5:101230870-101230879 chr5:101230869-101230880
21	CEBPB	chr5:101250910-101251177	A549	lung:	n/a	chr5:101251033-101251044
22	CEBPB	chr5:101373342-101373696	Hela-S3	cervix:	n/a	chr5:101373550-101373561
23	CEBPB	chr5:101368296-101368559	MCF-7	breast:	n/a	chr5:101368460-101368473 chr5:101368460-101368471 chr5:101368460-101368473 chr5:101368462-101368473
24	CEBPB	chr5:101342030-101342234	A549	lung:	n/a	chr5:101342206-101342219
25	CEBPB	chr5:101250923-101251163	HepG2	liver:	n/a	chr5:101251033-101251044
26	CEBPB	chr5:101336317-101336589	A549	lung:	n/a	chr5:101336472-101336483
27	CEBPB	chr5:101307371-101307487	A549	lung:	n/a	chr5:101307466-101307477
28	CEBPB	chr5:101343099-101343242	A549	lung:	n/a	n/a
29	CEBPB	chr5:101368316-101368637	A549	lung:	n/a	chr5:101368460-101368473 chr5:101368460-101368471 chr5:101368460-101368473 chr5:101368462-101368473
30	CEBPB	chr5:101240494-101240820	A549	lung:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
31	CEBPB	chr5:101336311-101336608	HepG2	liver:	n/a	chr5:101336472-101336483
32	CEBPB	chr5:101331266-101331761	MCF-7	breast:	n/a	n/a
33	CEBPB	chr5:101240435-101240815	MCF-7	breast:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
34	CEBPB	chr5:101307299-101307533	HepG2	liver:	n/a	chr5:101307466-101307477
35	CEBPB	chr5:101240500-101240839	IMR90	lung:	n/a	chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240645-101240654 chr5:101240645-101240654 chr5:101240644-101240655 chr5:101240645-101240654 chr5:101240643-101240656 chr5:101240643-101240656 chr5:101240643-101240654
36	CTBP2	chr5:101278107-101278748	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr5:101278060-101278210	HCT-116	colon:	n/a	n/a
38	CTCF	chr5:101278084-101278230	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:101278040-101278190	BJ	skin:	n/a	n/a
40	CTCF	chr5:101313540-101313690	GM12870	blood:	n/a	chr5:101313639-101313647 chr5:101313629-101313650 chr5:101313636-101313649 chr5:101313635-101313651 chr5:101313634-101313652
41	CTCF	chr5:101313454-101313843	A549	lung:	n/a	chr5:101313639-101313647 chr5:101313629-101313650 chr5:101313636-101313649 chr5:101313635-101313651 chr5:101313634-101313652
42	CTCF	chr5:101313540-101313690	HBMEC	blood vessel:	n/a	chr5:101313639-101313647 chr5:101313629-101313650 chr5:101313636-101313649 chr5:101313635-101313651 chr5:101313634-101313652
43	CTCF	chr5:101313562-101313754	Spleen_OC	spleen:	n/a	chr5:101313639-101313647 chr5:101313629-101313650 chr5:101313636-101313649 chr5:101313635-101313651 chr5:101313634-101313652
44	CTCF	chr5:101313560-101313710	GM12801	blood:	n/a	chr5:101313639-101313647 chr5:101313629-101313650 chr5:101313636-101313649 chr5:101313635-101313651 chr5:101313634-101313652
45	CTCF	chr5:101278040-101278190	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr5:101278040-101278190	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr5:101278020-101278170	HL-60	blood:	n/a	n/a
48	CTCF	chr5:101278073-101278257	GM12892	blood:	n/a	n/a
49	CTCF	chr5:101357921-101357982	GM20000	blood:	n/a	n/a
50	CTCF	chr5:101278020-101278170	HRE	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:101297137-101297187	SK-N-SH	brain:	n/a
2	chr5:101279502-101279552	HUVEC	blood vessel:	n/a
3	chr5:101279502-101279552	HCM	heart:	n/a
4	chr5:101297137-101297187	SKMC	muscle:	n/a
5	chr5:101297137-101297187	HCF	heart:	n/a
6	chr5:101297137-101297187	H1-hESC	embryonic stem cell:	embryo
7	chr5:101297174-101297224	HCM	heart:	n/a
8	chr5:101297174-101297224	HUVEC	blood vessel:	n/a
9	chr5:101279502-101279552	Hepatocyte	liver:	n/a
10	chr5:101279502-101279552	ovcar-3	ovarian:	n/a
11	chr5:101297137-101297187	HCPEpiC	choroid plexus:	n/a
12	chr5:101297137-101297187	SAEC	small airway:	n/a
13	chr5:101297174-101297224	T-47D	breast:	n/a
14	chr5:101279502-101279552	ProgFib	skin:	n/a
15	chr5:101297137-101297187	GM12878	blood:	n/a
16	chr5:101279502-101279552	HRE	kidney:	n/a
17	chr5:101297174-101297224	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:101297137-101297187	Jurkat	blood:	n/a
19	chr5:101279502-101279552	BJ	skin:	n/a
20	chr5:101279502-101279552	HL-60	blood:	n/a
21	chr5:101297174-101297224	AG10803	skin:	n/a
22	chr5:101297137-101297187	HEEpiC	esophagus:	n/a
23	chr5:101297174-101297224	GM12892	blood:	n/a
24	chr5:101297174-101297224	HNPCEpiC	eye:	n/a
25	chr5:101297174-101297224	MCF-7	breast:	n/a
26	chr5:101279502-101279552	HepG2	liver:	n/a
27	chr5:101297137-101297187	HepG2	liver:	n/a
28	chr5:101279502-101279552	AG09319	gingival:	n/a
29	chr5:101297174-101297224	AG04450	lung:	fetal
30	chr5:101297174-101297224	HIPEpiC	eye:	n/a
31	chr5:101279502-101279552	NH-A	brain:	n/a
32	chr5:101297174-101297224	Hela-S3	cervix:	n/a
33	chr5:101297137-101297187	AoSMC	blood vessel:	n/a
34	chr5:101297137-101297187	IMR90	lung:	fetal
35	chr5:101279502-101279552	T-47D	breast:	n/a
36	chr5:101297137-101297187	GM12891	blood:	n/a
37	chr5:101297137-101297187	BE2_C	brain:	n/a
38	chr5:101297137-101297187	MCF10A-Er-Src	breast:	n/a
39	chr5:101297137-101297187	PrEC	prostate:	n/a
40	chr5:101279502-101279552	PANC-1	pancreas:	n/a
41	chr5:101279502-101279552	NB4	blood:	n/a
42	chr5:101279502-101279552	CMK	blood:	n/a
43	chr5:101297174-101297224	SK-N-SH_RA	brain:	n/a
44	chr5:101279502-101279552	HIPEpiC	eye:	n/a
45	chr5:101297174-101297224	SAEC	small airway:	n/a
46	chr5:101297174-101297224	PANC-1	pancreas:	n/a
47	chr5:101297137-101297187	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:101279502-101279552	RPTEC	kidney:	n/a
49	chr5:101279502-101279552	HAEpiC	amniotic membrane:	n/a
50	chr5:101279502-101279552	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:101341869..101344693-chr5:101345059..101347272,2	MCF-7	breast:
2	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
3	chr5:101277790..101278635-chr5:101488732..101489585,4	MCF-7	breast:
4	chr17:27716905..27717691-chr5:101351042..101351795,2	MCF-7	breast:
5	chr5:101312840..101313801-chr5:101426237..101427126,3	MCF-7	breast:
6	chr5:101277636..101278379-chr5:101489093..101489664,2	MCF-7	breast:
7	chr5:101341869..101344693-chr5:101345059..101347272,2	MCF-7	breast:
8	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
9	chr5:101277581..101278499-chr5:101426192..101427059,2	MCF-7	breast:
10	chr5:101277703..101278961-chr5:101426537..101427100,3	MCF-7	breast:
11	chr5:101326987..101328842-chr5:101335717..101338180,2	MCF-7	breast:
12	chr5:101326987..101328842-chr5:101335717..101338180,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAM-8	chr5:101312000-101312502	NONHSAT103019

Variant related genes	Relation type
ENSG00000249495	TF binding region
ENSG00000249495	CpG island
ENSG00000263719	chromatin interactions
ENSG00000160551	chromatin interactions

Extended variants
information (count: 1876 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1876 , 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	rs559548334	chr5:101229000-101229001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147803233	chr5:101229030-101229031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114408194	chr5:101229033-101229034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563635078	chr5:101229063-101229064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11958207	chr5:101229100-101229101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548839426	chr5:101229110-101229111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141192198	chr5:101229168-101229169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10043877	chr5:101229210-101229211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185781559	chr5:101229217-101229218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142927815	chr5:101229343-101229344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571253729	chr5:101229366-101229367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372964954	chr5:101229425-101229426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72772453	chr5:101229445-101229446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9327693	chr5:101229488-101229489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs68179857	chr5:101229501-101229502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368731199	chr5:101229563-101229564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57479988	chr5:101229571-101229572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567721146	chr5:101229593-101229594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375789298	chr5:101229602-101229603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574093445	chr5:101229634-101229635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541058276	chr5:101229637-101229638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191031187	chr5:101229669-101229670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183722198	chr5:101229706-101229707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189108561	chr5:101229727-101229728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114990087	chr5:101229803-101229804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563357266	chr5:101229820-101229821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530570277	chr5:101229871-101229872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200543878	chr5:101229880-101229881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542520401	chr5:101229883-101229884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560837256	chr5:101229894-101229895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573277036	chr5:101229901-101229902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540327187	chr5:101229943-101229944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368950300	chr5:101229950-101229951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528124788	chr5:101229959-101229960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529418942	chr5:101229983-101229984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6866575	chr5:101229996-101229997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571355385	chr5:101230006-101230007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532125283	chr5:101230046-101230047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550623519	chr5:101230058-101230059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570268119	chr5:101230064-101230065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537602935	chr5:101230101-101230102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556136991	chr5:101230114-101230115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371585113	chr5:101230115-101230116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567938515	chr5:101230142-101230143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111992270	chr5:101230143-101230144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553107318	chr5:101230196-101230197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530471663	chr5:101230198-101230199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545888093	chr5:101233417-101233418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141725891	chr5:101233425-101233426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567400982	chr5:101233478-101233479	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101229000-101229400	Enhancers	Colon Smooth Muscle	Colon
2	chr5:101229400-101230000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:101230000-101230200	Enhancers	Colon Smooth Muscle	Colon
4	chr5:101233400-101233600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:101233400-101233800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:101233400-101234000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:101233400-101234000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:101233600-101233800	Enhancers	Gastric	stomach
9	chr5:101233600-101234000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:101233600-101234000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:101233600-101234000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:101233600-101234000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:101233600-101234000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:101233600-101234000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:101233600-101234000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:101233600-101234000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:101233600-101234000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:101233600-101234000	Active TSS	A549	lung
19	chr5:101234000-101238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:101234000-101238800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:101237600-101241400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:101238200-101239400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:101238200-101239400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:101238200-101240600	Enhancers	Brain Germinal Matrix	brain
25	chr5:101238800-101239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:101239200-101242000	Weak transcription	Aorta	Aorta
27	chr5:101239400-101240400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:101239400-101240400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:101239400-101240600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:101240200-101240600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:101240400-101240800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:101240400-101240800	Enhancers	Adipose Nuclei	Adipose
33	chr5:101240400-101241000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:101240400-101241400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:101240600-101241000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:101250600-101250800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:101250600-101251400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:101250600-101251400	Enhancers	Brain Germinal Matrix	brain
39	chr5:101250800-101251200	Enhancers	Colon Smooth Muscle	Colon
40	chr5:101251000-101251400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:101251000-101251800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:101251200-101251400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:101251200-101251600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:101251200-101251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:101251400-101251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:101251400-101251800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:101251400-101252000	Active TSS	A549	lung
48	chr5:101251800-101252000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:101264400-101264800	Enhancers	Colon Smooth Muscle	Colon
50	chr5:101265200-101266000	Enhancers	Rectal Smooth Muscle	rectum

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