Variant report

Variant	nsv519152
Chromosome Location	chr8:121458457-121571266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:183)
Chromatin interactive
region (count:59)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:121464995-121465300	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:121464952-121465278	K562	blood:	n/a	n/a
3	ARID3A	chr8:121493486-121493734	HepG2	liver:	n/a	n/a
4	BHLHE40	chr8:121553461-121553463	HepG2	liver:	n/a	n/a
5	BHLHE40	chr8:121566090-121566109	GM12878	blood:	n/a	n/a
6	BRCA1	chr8:121535055-121535064	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr8:121490855-121491275	K562	blood:	n/a	n/a
8	CBX3	chr8:121567489-121567888	K562	blood:	n/a	n/a
9	CEBPB	chr8:121465244-121465268	HepG2	liver:	n/a	chr8:121465255-121465266 chr8:121465255-121465268 chr8:121465255-121465268
10	CEBPB	chr8:121484473-121484926	MCF-7	breast:	n/a	chr8:121484636-121484647
11	CEBPB	chr8:121484487-121484891	ECC-1	luminal epithelium:	n/a	chr8:121484636-121484647
12	CEBPB	chr8:121470443-121470664	H1-hESC	embryonic stem cell:	n/a	chr8:121470522-121470533
13	CEBPB	chr8:121470377-121470694	HepG2	liver:	n/a	chr8:121470522-121470533
14	CEBPB	chr8:121557057-121557358	HepG2	liver:	n/a	chr8:121557180-121557193 chr8:121557181-121557192
15	CEBPB	chr8:121484474-121484760	HepG2	liver:	n/a	chr8:121484636-121484647
16	CEBPB	chr8:121539813-121540314	IMR90	lung:	n/a	n/a
17	CEBPB	chr8:121496833-121497159	IMR90	lung:	n/a	n/a
18	CEBPB	chr8:121557080-121557316	A549	lung:	n/a	chr8:121557180-121557193 chr8:121557181-121557192
19	CEBPB	chr8:121484458-121484846	H1-hESC	embryonic stem cell:	n/a	chr8:121484636-121484647
20	CEBPB	chr8:121470466-121470556	Hela-S3	cervix:	n/a	chr8:121470522-121470533
21	CEBPB	chr8:121484451-121484834	IMR90	lung:	n/a	chr8:121484636-121484647
22	CEBPB	chr8:121484485-121484810	K562	blood:	n/a	chr8:121484636-121484647
23	CEBPB	chr8:121520911-121521210	HepG2	liver:	n/a	chr8:121521033-121521044 chr8:121521035-121521046
24	CEBPB	chr8:121484459-121484869	A549	lung:	n/a	chr8:121484636-121484647
25	CEBPB	chr8:121559228-121559457	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:121468151-121468428	A549	lung:	n/a	chr8:121468283-121468294
27	CEBPB	chr8:121468141-121468477	HepG2	liver:	n/a	chr8:121468283-121468294
28	CEBPB	chr8:121484525-121484745	HepG2	liver:	n/a	chr8:121484636-121484647
29	CEBPB	chr8:121470351-121470698	IMR90	lung:	n/a	chr8:121470522-121470533
30	CEBPB	chr8:121553109-121553414	IMR90	lung:	n/a	chr8:121553236-121553247
31	CEBPB	chr8:121484444-121484831	ECC-1	luminal epithelium:	n/a	chr8:121484636-121484647
32	CEBPB	chr8:121557047-121557318	Hela-S3	cervix:	n/a	chr8:121557180-121557193 chr8:121557181-121557192
33	CEBPB	chr8:121484454-121484836	HepG2	liver:	n/a	chr8:121484636-121484647
34	CEBPB	chr8:121465128-121465356	K562	blood:	n/a	chr8:121465255-121465266 chr8:121465255-121465268 chr8:121465255-121465268
35	CEBPB	chr8:121553148-121553385	A549	lung:	n/a	chr8:121553236-121553247
36	CEBPB	chr8:121553120-121553364	H1-hESC	embryonic stem cell:	n/a	chr8:121553236-121553247
37	CEBPB	chr8:121484355-121484962	A549	lung:	n/a	chr8:121484636-121484647
38	CEBPB	chr8:121484437-121484881	K562	blood:	n/a	chr8:121484636-121484647
39	CEBPB	chr8:121520970-121521130	HepG2	liver:	n/a	chr8:121521033-121521044 chr8:121521035-121521046
40	CEBPB	chr8:121484359-121484936	MCF-7	breast:	n/a	chr8:121484636-121484647
41	CEBPB	chr8:121540058-121540250	HepG2	liver:	n/a	n/a
42	CEBPB	chr8:121484450-121484840	Hela-S3	cervix:	n/a	chr8:121484636-121484647
43	CEBPB	chr8:121470345-121470711	K562	blood:	n/a	chr8:121470522-121470533
44	CEBPB	chr8:121470308-121470658	MCF-7	breast:	n/a	chr8:121470522-121470533
45	CEBPB	chr8:121471026-121471151	A549	lung:	n/a	n/a
46	CEBPB	chr8:121468134-121468456	IMR90	lung:	n/a	chr8:121468283-121468294
47	CEBPB	chr8:121460361-121460591	HepG2	liver:	n/a	chr8:121460483-121460494
48	CEBPB	chr8:121557045-121557333	IMR90	lung:	n/a	chr8:121557180-121557193 chr8:121557181-121557192
49	CEBPB	chr8:121484449-121484832	A549	lung:	n/a	chr8:121484636-121484647
50	CEBPB	chr8:121553089-121553424	HepG2	liver:	n/a	chr8:121553236-121553247

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:121458556-121458606	HCM	heart:	n/a
2	chr8:121461110-121461160	ProgFib	skin:	n/a
3	chr8:121461110-121461160	NH-A	brain:	n/a
4	chr8:121566699-121566749	NHDF-neo	bronchial:	n/a
5	chr8:121461110-121461160	K562	blood:	n/a
6	chr8:121566699-121566749	AG04450	lung:	fetal
7	chr8:121461110-121461160	H1-hESC	embryonic stem cell:	embryo
8	chr8:121458556-121458606	SAEC	small airway:	n/a
9	chr8:121566699-121566749	HRCEpiC	kidney:	n/a
10	chr8:121461110-121461160	MCF-7	breast:	n/a
11	chr8:121566699-121566749	AG04449	skin:	fetal
12	chr8:121458556-121458606	HRCEpiC	kidney:	n/a
13	chr8:121458556-121458606	HNPCEpiC	eye:	n/a
14	chr8:121458556-121458606	LNCaP	prostate:	n/a
15	chr8:121566699-121566749	HCPEpiC	choroid plexus:	n/a
16	chr8:121458556-121458606	ECC-1	luminal epithelium:	n/a
17	chr8:121458556-121458606	NT2-D1	testis:	n/a
18	chr8:121458556-121458606	GM06990	blood:	n/a
19	chr8:121566699-121566749	BJ	skin:	n/a
20	chr8:121461110-121461160	PrEC	prostate:	n/a
21	chr8:121566699-121566749	LNCaP	prostate:	n/a
22	chr8:121461110-121461160	LNCaP	prostate:	n/a
23	chr8:121458556-121458606	ovcar-3	ovarian:	n/a
24	chr8:121566699-121566749	MCF-7	breast:	n/a
25	chr8:121461110-121461160	GM12878	blood:	n/a
26	chr8:121566699-121566749	GM06990	blood:	n/a
27	chr8:121566699-121566749	HEK293	kidney:	embryo
28	chr8:121461110-121461160	HL-60	blood:	n/a
29	chr8:121461110-121461160	ECC-1	luminal epithelium:	n/a
30	chr8:121461110-121461160	Hepatocyte	liver:	n/a
31	chr8:121461110-121461160	AG09319	gingival:	n/a
32	chr8:121458556-121458606	BE2_C	brain:	n/a
33	chr8:121566699-121566749	HCF	heart:	n/a
34	chr8:121566699-121566749	PANC-1	pancreas:	n/a
35	chr8:121458556-121458606	HUVEC	blood vessel:	n/a
36	chr8:121566699-121566749	ovcar-3	ovarian:	n/a
37	chr8:121458556-121458606	MCF-7	breast:	n/a
38	chr8:121458556-121458606	Hepatocyte	liver:	n/a
39	chr8:121461110-121461160	AG04450	lung:	fetal
40	chr8:121566699-121566749	HIPEpiC	eye:	n/a
41	chr8:121461110-121461160	HRCEpiC	kidney:	n/a
42	chr8:121461110-121461160	HUVEC	blood vessel:	n/a
43	chr8:121458556-121458606	GM19239	blood:	n/a
44	chr8:121458556-121458606	SK-N-SH	brain:	n/a
45	chr8:121566699-121566749	Hepatocyte	liver:	n/a
46	chr8:121566699-121566749	ECC-1	luminal epithelium:	n/a
47	chr8:121461110-121461160	NT2-D1	testis:	n/a
48	chr8:121458556-121458606	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:121461110-121461160	GM12892	blood:	n/a
50	chr8:121458556-121458606	SKMC	muscle:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:121510638..121513169-chr8:121514269..121517383,3	K562	blood:
2	chr8:121570203..121571845-chr8:121572153..121574124,2	K562	blood:
3	chr8:121470546..121472244-chr8:121472632..121474398,2	MCF-7	breast:
4	chr8:121456680..121458878-chr8:121471899..121475755,3	MCF-7	breast:
5	chr8:121451054..121453168-chr8:121457842..121461614,3	K562	blood:
6	chr8:121509906..121512045-chr8:121517322..121521467,3	MCF-7	breast:
7	chr8:121491951..121494314-chr8:121553949..121556742,2	K562	blood:
8	chr8:121481546..121483918-chr8:121486505..121488049,2	MCF-7	breast:
9	chr8:121454131..121459873-chr8:121462933..121467773,9	K562	blood:
10	chr8:121462628..121464826-chr8:121465144..121467078,2	K562	blood:
11	chr8:121464608..121465642-chr8:121617640..121618545,4	MCF-7	breast:
12	chr8:121510638..121513169-chr8:121514269..121517383,3	K562	blood:
13	chr8:121462628..121464826-chr8:121465144..121467078,2	K562	blood:
14	chr8:121489947..121491586-chr8:121494046..121495561,2	K562	blood:
15	chr8:121471060..121472875-chr8:121476214..121479211,2	K562	blood:
16	chr8:121474578..121477063-chr8:121479242..121481717,3	K562	blood:
17	chr8:121489947..121491586-chr8:121494046..121495561,2	K562	blood:
18	chr8:121532282..121534379-chr8:121535503..121538039,2	K562	blood:
19	chr8:121548668..121550591-chr8:121568296..121570186,2	K562	blood:
20	chr8:121491951..121494314-chr8:121553949..121556742,2	K562	blood:
21	chr8:121490309..121492059-chr8:121495586..121498161,2	K562	blood:
22	chr8:121464677..121466235-chr8:121468149..121470713,2	K562	blood:
23	chr8:121537988..121539624-chr8:121540366..121542658,2	K562	blood:
24	chr8:121464677..121466235-chr8:121468149..121470713,2	K562	blood:
25	chr4:151571818..151572526-chr8:121510190..121511044,2	MCF-7	breast:
26	chr8:121513049..121516697-chr8:121519405..121522575,3	K562	blood:
27	chr8:121467254..121469319-chr8:121475041..121477218,2	K562	blood:
28	chr8:121537988..121539624-chr8:121540366..121542658,2	K562	blood:
29	chr8:121548668..121550591-chr8:121568296..121570186,2	K562	blood:
30	chr8:121456234..121458471-chr8:121474403..121476928,2	K562	blood:
31	chr8:120868194..120870504-chr8:121469738..121472697,2	MCF-7	breast:
32	chr8:121509906..121512045-chr8:121517322..121521467,3	MCF-7	breast:
33	chr8:121467254..121469319-chr8:121475041..121477218,2	K562	blood:
34	chr8:121464599..121465793-chr8:121617159..121618618,14	MCF-7	breast:
35	chr8:121324471..121327293-chr8:121521096..121522811,2	MCF-7	breast:
36	chr8:121532282..121534379-chr8:121535503..121538039,2	K562	blood:
37	chr8:121493947..121495884-chr8:121507888..121510586,2	K562	blood:
38	chr8:121519851..121521480-chr8:121528320..121530323,2	K562	blood:
39	chr8:121493947..121495884-chr8:121507888..121510586,2	K562	blood:
40	chr8:121459451..121460981-chr8:121471522..121473373,2	K562	blood:
41	chr8:121490309..121492059-chr8:121495586..121498161,2	K562	blood:
42	chr8:121450454..121452292-chr8:121467383..121469748,2	K562	blood:
43	chr8:121456070..121457664-chr8:121509055..121511130,2	K562	blood:
44	chr8:121481546..121483918-chr8:121486505..121488049,2	MCF-7	breast:
45	chr8:121544486..121549968-chr8:121551053..121554339,4	K562	blood:
46	chr8:121519851..121521480-chr8:121528320..121530323,2	K562	blood:
47	chr8:121544486..121549968-chr8:121551053..121554339,4	K562	blood:
48	chr8:121513049..121516697-chr8:121519405..121522575,3	K562	blood:
49	chr8:121459451..121460981-chr8:121471522..121473373,2	K562	blood:
50	chr8:121455673..121457794-chr8:121503507..121505497,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTBP-4	chr8:121553402-121553459	NONHSAT128455
2	lnc-MTBP-4	chr8:121554234-121554373	NONHSAT128455
3	lnc-MTBP-4	chr8:121550935-121551103	NONHSAT128455

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SNTB1	hsa-miR-335-5p	chr8:121548574-121548600
2	SNTB1	hsa-miR-24-3p	chr8:121550431-121550454
3	SNTB1	hsa-miR-24-3p	chr8:121550437-121550430

Variant related genes	Relation type
MRPL13	TF binding region
MTBP	TF binding region
MRPL13	CpG island
MTBP	CpG island
ENSG00000136982	chromatin interactions
ENSG00000172172	chromatin interactions
ENSG00000172167	chromatin interactions
ENSG00000244534	chromatin interactions

Extended variants
information (count: 3920 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:3920 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7001242	chr8:121458457-121458458	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575701723	chr8:121458460-121458461	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561240242	chr8:121458475-121458476	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531717230	chr8:121458489-121458490	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575160127	chr8:121458496-121458497	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550232741	chr8:121458532-121458533	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112862575	chr8:121458542-121458543	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs72678271	chr8:121458543-121458544	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532439826	chr8:121458597-121458598	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs573543121	chr8:121458602-121458603	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs199814276	chr8:121458642-121458643	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374017086	chr8:121458648-121458649	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376094030	chr8:121458790-121458791	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565881803	chr8:121458795-121458796	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535938054	chr8:121458833-121458834	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs190821880	chr8:121458836-121458837	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569444496	chr8:121458837-121458838	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs193083272	chr8:121458866-121458867	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558180879	chr8:121458879-121458880	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373956110	chr8:121458880-121458881	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs6985660	chr8:121458889-121458890	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554040028	chr8:121458910-121458911	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371564526	chr8:121458928-121458929	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184618542	chr8:121458929-121458930	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188070673	chr8:121458941-121458942	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561352551	chr8:121459011-121459012	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs566488851	chr8:121459022-121459023	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs576650952	chr8:121459071-121459072	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181270809	chr8:121459092-121459093	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111721534	chr8:121459135-121459136	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565289427	chr8:121459192-121459193	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532271397	chr8:121459275-121459276	Weak transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571821462	chr8:121459282-121459283	Weak transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10088602	chr8:121459355-121459356	Weak transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560573534	chr8:121459481-121459482	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185339087	chr8:121459487-121459488	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77675358	chr8:121459553-121459554	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188982807	chr8:121459569-121459570	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569405386	chr8:121459574-121459575	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559669111	chr8:121459682-121459683	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528661214	chr8:121459694-121459695	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551717650	chr8:121459696-121459697	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563555700	chr8:121459712-121459713	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370341033	chr8:121459793-121459794	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181381045	chr8:121459808-121459809	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4469499	chr8:121459823-121459824	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570444285	chr8:121459828-121459829	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs549539576	chr8:121459829-121459830	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532331209	chr8:121459856-121459857	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554425699	chr8:121459876-121459877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121455000-121458600	Active TSS	GM12878-XiMat	blood
2	chr8:121455800-121458800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:121456000-121458600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:121456000-121458600	Active TSS	A549	lung
5	chr8:121456000-121458800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:121456200-121458600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:121456200-121458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:121456200-121458600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:121456200-121458600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:121456200-121458600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:121456200-121458600	Active TSS	Thymus	Thymus
12	chr8:121456200-121459000	Active TSS	K562	blood
13	chr8:121456200-121459600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:121456400-121458600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:121456400-121458600	Active TSS	Fetal Kidney	kidney
16	chr8:121456400-121458800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:121456600-121458600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:121456800-121458600	Active TSS	NH-A	brain
19	chr8:121457400-121458600	Active TSS	Brain Germinal Matrix	brain
20	chr8:121457600-121458600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr8:121457800-121458600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr8:121457800-121458600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr8:121457800-121458600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121457800-121458600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:121457800-121458600	Flanking Active TSS	HUVEC	blood vessel
26	chr8:121457800-121459000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:121457800-121459000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:121457800-121459000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:121457800-121459000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:121458000-121458600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:121458000-121458600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:121458000-121458600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:121458000-121458600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:121458000-121458600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr8:121458000-121458600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:121458000-121458600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr8:121458000-121458600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr8:121458000-121458600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:121458000-121458600	Flanking Active TSS	Fetal Brain Female	brain
40	chr8:121458000-121458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:121458000-121458800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:121458000-121458800	Flanking Active TSS	NHLF	lung
43	chr8:121458000-121465800	Weak transcription	Spleen	Spleen
44	chr8:121458000-121467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:121458000-121468000	Weak transcription	Esophagus	oesophagus
46	chr8:121458000-121468200	Weak transcription	Gastric	stomach
47	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:121458000-121480800	Weak transcription	Lung	lung
49	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
50	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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