Variant report

Variant	nsv519647
Chromosome Location	chr5:177120697-177260129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:422)
CpG islands
(count:489)
Chromatin interactive
region (count:1)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:422 , 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	BHLHE40	chr5:177225275-177225490	HepG2	liver:	n/a	n/a
2	CBX3	chr5:177122231-177122685	K562	blood:	n/a	n/a
3	CBX3	chr5:177209512-177209875	K562	blood:	n/a	n/a
4	CBX3	chr5:177209565-177209833	K562	blood:	n/a	n/a
5	CEBPB	chr5:177198402-177198415	K562	blood:	n/a	n/a
6	CEBPB	chr5:177150142-177150215	K562	blood:	n/a	n/a
7	CEBPB	chr5:177198236-177198491	A549	lung:	n/a	chr5:177198345-177198358
8	CEBPB	chr5:177150022-177150211	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:177198235-177198496	IMR90	lung:	n/a	chr5:177198345-177198358
10	CTCF	chr5:177225373-177225530	MCF-7	breast:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
11	CTCF	chr5:177224334-177224345	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr5:177225406-177225500	GM19239	blood:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
13	CTCF	chr5:177224147-177224263	GM12892	blood:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
14	CTCF	chr5:177236155-177236578	GM19238	blood:	n/a	chr5:177236545-177236558 chr5:177236292-177236310
15	CTCF	chr5:177224136-177224310	H1-hESC	embryonic stem cell:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
16	CTCF	chr5:177225352-177225548	MCF-7	breast:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
17	CTCF	chr5:177225390-177225511	Medullo	brain:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
18	CTCF	chr5:177225305-177225518	H1-hESC	embryonic stem cell:	n/a	chr5:177225459-177225472 chr5:177225456-177225474 chr5:177225342-177225350
19	CTCF	chr5:177224147-177224244	GM12891	blood:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
20	CTCF	chr5:177225349-177225697	K562	blood:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
21	CTCF	chr5:177188409-177188510	GM10248	blood:	n/a	n/a
22	CTCF	chr5:177225441-177225502	GM10266	blood:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
23	CTCF	chr5:177236134-177236540	MCF-7	breast:	n/a	chr5:177236292-177236310
24	CTCF	chr5:177225300-177225450	K562	blood:	n/a	chr5:177225342-177225350
25	CTCF	chr5:177236020-177236170	BJ	skin:	n/a	n/a
26	CTCF	chr5:177236175-177236436	K562	blood:	n/a	chr5:177236292-177236310
27	CTCF	chr5:177142429-177142496	GM10248	blood:	n/a	n/a
28	CTCF	chr5:177225353-177225564	K562	blood:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
29	CTCF	chr5:177236212-177236359	A549	lung:	n/a	chr5:177236292-177236310
30	CTCF	chr5:177211281-177211328	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr5:177224140-177224277	GM10266	blood:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
32	CTCF	chr5:177224825-177224872	HepG2	liver:	n/a	n/a
33	CTCF	chr5:177236502-177236645	GM19240	blood:	n/a	chr5:177236545-177236558
34	CTCF	chr5:177223086-177223092	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr5:177225387-177225519	MCF-7	breast:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
36	CTCF	chr5:177255932-177255958	GM13976	blood:	n/a	n/a
37	CTCF	chr5:177164441-177164456	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:177135200-177135233	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr5:177236228-177236395	Medullo	brain:	n/a	chr5:177236292-177236310
40	CTCF	chr5:177236040-177236190	HCFaa	heart:	n/a	n/a
41	CTCF	chr5:177224163-177224258	GM19240	blood:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
42	CTCF	chr5:177175647-177175650	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr5:177224144-177224240	Hela-S3	cervix:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
44	CTCF	chr5:177224110-177224277	MCF-7	breast:	n/a	chr5:177224201-177224219 chr5:177224227-177224235
45	CTCF	chr5:177225388-177225550	GM19240	blood:	n/a	chr5:177225459-177225472 chr5:177225456-177225474
46	CTCF	chr5:177164378-177164493	K562	blood:	n/a	n/a
47	CTCF	chr5:177210776-177210798	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr5:177236174-177236484	LNCaP	prostate:	n/a	chr5:177236292-177236310
49	CTCF	chr5:177236135-177236618	MCF-7	breast:	n/a	chr5:177236545-177236558 chr5:177236292-177236310
50	CTCF	chr5:177236594-177236669	GM13976	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177210257-177210307	HEK293	kidney:	embryo
2	chr5:177210257-177210307	HEK293	kidney:	embryo
3	chr5:177225404-177225454	SK-N-MC	brain:	n/a
4	chr5:177209285-177209335	BE2_C	brain:	n/a
5	chr5:177234437-177234487	AG10803	skin:	n/a
6	chr5:177234437-177234487	Caco-2	colon:	n/a
7	chr5:177209947-177209997	CMK	blood:	n/a
8	chr5:177234437-177234487	HMEC	breast:	n/a
9	chr5:177212760-177212810	Jurkat	blood:	n/a
10	chr5:177209947-177209997	SK-N-SH	brain:	n/a
11	chr5:177196865-177196915	U87	brain:	n/a
12	chr5:177210257-177210307	H1-hESC	embryonic stem cell:	embryo
13	chr5:177209285-177209335	LNCaP	prostate:	n/a
14	chr5:177234437-177234487	GM19239	blood:	n/a
15	chr5:177209947-177209997	GM12891	blood:	n/a
16	chr5:177165350-177165400	IMR90	lung:	fetal
17	chr5:177210257-177210307	SK-N-MC	brain:	n/a
18	chr5:177196865-177196915	T-47D	breast:	n/a
19	chr5:177234437-177234487	MCF-7	breast:	n/a
20	chr5:177209947-177209997	HepG2	liver:	n/a
21	chr5:177196865-177196915	HNPCEpiC	eye:	n/a
22	chr5:177212760-177212810	Hela-S3	cervix:	n/a
23	chr5:177234437-177234487	K562	blood:	n/a
24	chr5:177212760-177212810	AG04450	lung:	fetal
25	chr5:177212760-177212810	HRE	kidney:	n/a
26	chr5:177209947-177209997	ovcar-3	ovarian:	n/a
27	chr5:177234437-177234487	HRPEpiC	eye:	n/a
28	chr5:177234437-177234487	AG09319	gingival:	n/a
29	chr5:177165350-177165400	Caco-2	colon:	n/a
30	chr5:177234437-177234487	ovcar-3	ovarian:	n/a
31	chr5:177165350-177165400	BE2_C	brain:	n/a
32	chr5:177209947-177209997	SKMC	muscle:	n/a
33	chr5:177196865-177196915	IMR90	lung:	fetal
34	chr5:177210257-177210307	BE2_C	brain:	n/a
35	chr5:177234437-177234487	HCF	heart:	n/a
36	chr5:177225404-177225454	Hela-S3	cervix:	n/a
37	chr5:177196865-177196915	CMK	blood:	n/a
38	chr5:177209947-177209997	AG10803	skin:	n/a
39	chr5:177196865-177196915	BJ	skin:	n/a
40	chr5:177210257-177210307	CMK	blood:	n/a
41	chr5:177196865-177196915	HIPEpiC	eye:	n/a
42	chr5:177225404-177225454	NT2-D1	testis:	n/a
43	chr5:177225404-177225454	HRPEpiC	eye:	n/a
44	chr5:177209947-177209997	Hela-S3	cervix:	n/a
45	chr5:177212760-177212810	HRCEpiC	kidney:	n/a
46	chr5:177210257-177210307	SK-N-SH_RA	brain:	n/a
47	chr5:177209947-177209997	MCF10A-Er-Src	breast:	n/a
48	chr5:177165350-177165400	LNCaP	prostate:	n/a
49	chr5:177210257-177210307	AG04450	lung:	fetal
50	chr5:177210257-177210307	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177034180..177035059-chr5:177223760..177224507,2	MCF-7	breast:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-4	chr5:177144164-177144297	NONHSAT105456
2	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT105456
3	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105457
4	lnc-FAM193B-7	chr5:177206557-177206718	NONHSAT105468
5	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105465
6	lnc-FAM193B-4	chr5:177139121-177140171	NONHSAT105455
7	lnc-FAM193B-4	chr5:177145450-177145570	NONHSAT105456
8	lnc-FAM193B-4	chr5:177139134-177140171	NONHSAT105457
9	lnc-FAM193B-6	chr5:177177960-177178053	NONHSAT105464
10	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT147372
11	lnc-FAM193B-4	chr5:177139134-177140171	NONHSAT105456
12	lnc-FAM193B-4	chr5:177140026-177140171	NONHSAT147372
13	lnc-FAM193B-6	chr5:177180177-177180264	NONHSAT105464
14	lnc-FAM193B-5	chr5:177149337-177149570	NONHSAT105459
15	lnc-FAM193B-5	chr5:177149895-177150157	NONHSAT105459
16	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105468
17	lnc-RP11-1026M7.2.1-2	chr5:177133707-177133886	ENSG00000249849.1
18	lnc-FAM193B-4	chr5:177143346-177143367	NONHSAT105455
19	lnc-FAM193B-7	chr5:177206498-177206718	NONHSAT105467
20	lnc-FAM193B-4	chr5:177143346-177143416	NONHSAT105457
21	lnc-RP11-1026M7.2.1-2	chr5:177140798-177140970	ENSG00000249849.1
22	lnc-FAM193B-4	chr5:177144164-177144297	NONHSAT105457
23	lnc-FAM193B-4	chr5:177141050-177141178	NONHSAT105455
24	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT105457
25	lnc-FAM193B-7	chr5:177210285-177210365	NONHSAT105465
26	lnc-FAM193B-6	chr5:177175642-177175700	NONHSAT105464
27	lnc-FAM193B-4	chr5:177140795-177140917	NONHSAT105458
28	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105456
29	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105455
30	lnc-FAM193B-4	chr5:177145148-177145334	NONHSAT105457
31	lnc-FAM193B-4	chr5:177143346-177143364	NONHSAT147372
32	lnc-FAM193B-4	chr5:177145450-177145570	NONHSAT105457
33	lnc-FAM193B-7	chr5:177209744-177209814	NONHSAT105468
34	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105467
35	lnc-FAM193B-7	chr5:177208586-177208685	NONHSAT105467
36	lnc-FAM193B-7	chr5:177189930-177190511	NONHSAT105465
37	lnc-FAM193B-6	chr5:177174455-177174794	NONHSAT105464
38	lnc-FAM193B-4	chr5:177141070-177141181	NONHSAT105458
39	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT147372

No data

Variant related genes	Relation type
FAM153A	TF binding region
ENSG00000248943	TF binding region
ENSG00000249109	TF binding region
ENSG00000170089	TF binding region
FAM153A	CpG island
ENSG00000248943	CpG island
ENSG00000249109	CpG island
ENSG00000170089	CpG island
ENSG00000027847	chromatin interactions

Extended variants
information (count: 1375 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10060053	chr5:177120697-177120698	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572590308	chr5:177120760-177120761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181932791	chr5:177120763-177120764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532332505	chr5:177120789-177120790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550833934	chr5:177120790-177120791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371939749	chr5:177120795-177120796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569989236	chr5:177120796-177120797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537449121	chr5:177120799-177120800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549500569	chr5:177120819-177120820	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567730294	chr5:177120820-177120821	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535255620	chr5:177120829-177120830	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115797571	chr5:177120851-177120852	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4046148	chr5:177120852-177120853	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141414649	chr5:177120922-177120923	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2878302	chr5:177120926-177120927	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557629943	chr5:177120927-177120928	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575136042	chr5:177120928-177120929	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138889123	chr5:177120957-177120958	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149404176	chr5:177120970-177120971	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572574386	chr5:177120988-177120989	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539918458	chr5:177120993-177120994	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2334995	chr5:177121008-177121009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2334994	chr5:177121053-177121054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564772004	chr5:177121084-177121085	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532322572	chr5:177121259-177121260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373486868	chr5:177121271-177121272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562753254	chr5:177121305-177121306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530818085	chr5:177121321-177121322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375757279	chr5:177121350-177121351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567645599	chr5:177121468-177121469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528634121	chr5:177121542-177121543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112191760	chr5:177121755-177121756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111736535	chr5:177121756-177121757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368827763	chr5:177121791-177121792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373488003	chr5:177121803-177121804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547109625	chr5:177121945-177121946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571795676	chr5:177121964-177121965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377603915	chr5:177122011-177122012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187669208	chr5:177122018-177122019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557380907	chr5:177122029-177122030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2650335	chr5:177122073-177122074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569498610	chr5:177122094-177122095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535865680	chr5:177122112-177122113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377046656	chr5:177122125-177122126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559064869	chr5:177133806-177133807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs1696909	chr5:177133829-177133830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs556599467	chr5:177133839-177133840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs575114966	chr5:177133855-177133856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572094399	chr5:177137414-177137415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185623057	chr5:177137424-177137425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177117600-177121000	Weak transcription	K562	blood
2	chr5:177119800-177120800	Enhancers	HepG2	liver
3	chr5:177119800-177121000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:177119800-177121200	Enhancers	Fetal Lung	lung
5	chr5:177120400-177121000	Enhancers	Left Ventricle	heart
6	chr5:177120400-177121000	Enhancers	Stomach Mucosa	stomach
7	chr5:177120600-177121000	Enhancers	Liver	Liver
8	chr5:177120600-177121000	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:177120600-177121000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:177120800-177121200	Enhancers	Ovary	ovary
11	chr5:177120800-177121200	Flanking Active TSS	HepG2	liver
12	chr5:177120800-177122000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:177121000-177121400	Enhancers	K562	blood
14	chr5:177121200-177122200	Enhancers	HepG2	liver
15	chr5:177121400-177121600	Weak transcription	K562	blood
16	chr5:177121600-177122000	Enhancers	K562	blood
17	chr5:177137400-177142000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:177139400-177150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:177142200-177143000	Enhancers	NHEK	skin
20	chr5:177142400-177142800	Enhancers	HMEC	breast
21	chr5:177142400-177143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:177151000-177151200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:177151000-177151600	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:177163400-177167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:177188000-177188400	Enhancers	K562	blood
26	chr5:177190800-177191800	Enhancers	Fetal Muscle Leg	muscle
27	chr5:177209000-177209800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:177209400-177209600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:177209400-177209600	Enhancers	Pancreas	Pancrea
30	chr5:177209400-177209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:177209400-177209800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr5:177209400-177210200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:177209400-177210400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr5:177209400-177210400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr5:177209400-177210600	Active TSS	Ovary	ovary
36	chr5:177209600-177209800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:177209600-177209800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr5:177209600-177210400	Active TSS	Primary T cells fromperipheralblood	blood
39	chr5:177209800-177210400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:177210000-177210400	Active TSS	Brain Angular Gyrus	brain
41	chr5:177210000-177210600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:177218400-177218600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:177218600-177220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:177220800-177222400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:177221400-177221800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:177221400-177221800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:177221400-177221800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:177221400-177221800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:177221400-177222600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:177221400-177222600	Enhancers	Primary T helper cells PMA-I stimulated	--

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