Variant report

Variant	nsv6326
Chromosome Location	chr8:99221674-99263687
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	chr8:99263065-99263231	K562	blood:	n/a	n/a
2	ATF1	chr8:99258083-99258400	K562	blood:	n/a	n/a
3	ATF2	chr8:99257113-99257518	GM12878	blood:	n/a	n/a
4	BHLHE40	chr8:99223787-99223904	GM12878	blood:	n/a	n/a
5	BHLHE40	chr8:99257202-99257637	GM12878	blood:	n/a	n/a
6	CBX3	chr8:99238011-99238345	K562	blood:	n/a	n/a
7	CBX3	chr8:99238083-99238323	K562	blood:	n/a	n/a
8	CEBPB	chr8:99232801-99233121	ECC-1	luminal epithelium:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
9	CEBPB	chr8:99248305-99248693	HepG2	liver:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
10	CEBPB	chr8:99232790-99233116	K562	blood:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
11	CEBPB	chr8:99232784-99233174	ECC-1	luminal epithelium:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
12	CEBPB	chr8:99248176-99248816	MCF-7	breast:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
13	CEBPB	chr8:99251980-99252158	H1-hESC	embryonic stem cell:	n/a	chr8:99252071-99252082
14	CEBPB	chr8:99251933-99252192	K562	blood:	n/a	chr8:99252071-99252082
15	CEBPB	chr8:99241441-99241780	MCF-7	breast:	n/a	chr8:99241656-99241667
16	CEBPB	chr8:99232590-99233232	MCF-7	breast:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
17	CEBPB	chr8:99248358-99248626	HepG2	liver:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
18	CEBPB	chr8:99248295-99248629	ECC-1	luminal epithelium:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
19	CEBPB	chr8:99241587-99241787	HepG2	liver:	n/a	chr8:99241656-99241667
20	CEBPB	chr8:99248303-99248719	IMR90	lung:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
21	CEBPB	chr8:99244213-99244499	K562	blood:	n/a	n/a
22	CEBPB	chr8:99248271-99248837	HCT-116	colon:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
23	CEBPB	chr8:99232608-99233253	MCF-7	breast:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
24	CEBPB	chr8:99248300-99248691	A549	lung:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
25	CEBPB	chr8:99232774-99233138	IMR90	lung:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
26	CEBPB	chr8:99252000-99252134	A549	lung:	n/a	chr8:99252071-99252082
27	CEBPB	chr8:99244285-99244555	A549	lung:	n/a	n/a
28	CEBPB	chr8:99248423-99248574	K562	blood:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
29	CEBPB	chr8:99232648-99233189	HCT-116	colon:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
30	CEBPB	chr8:99232770-99233112	A549	lung:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
31	CEBPB	chr8:99248335-99248829	MCF-7	breast:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
32	CEBPB	chr8:99244269-99244531	HepG2	liver:	n/a	n/a
33	CEBPB	chr8:99232832-99233097	H1-hESC	embryonic stem cell:	n/a	chr8:99232951-99232960 chr8:99232949-99232960
34	CEBPB	chr8:99225525-99226100	IMR90	lung:	n/a	n/a
35	CEBPB	chr8:99248390-99248720	ECC-1	luminal epithelium:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
36	CEBPB	chr8:99248299-99248696	K562	blood:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
37	CEBPB	chr8:99248232-99248842	A549	lung:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
38	CEBPB	chr8:99241603-99241718	K562	blood:	n/a	chr8:99241656-99241667
39	CEBPB	chr8:99257114-99257325	K562	blood:	n/a	n/a
40	CEBPB	chr8:99259593-99259729	H1-hESC	embryonic stem cell:	n/a	chr8:99259709-99259720 chr8:99259709-99259722 chr8:99259709-99259720
41	CEBPB	chr8:99257022-99257252	HepG2	liver:	n/a	n/a
42	CEBPB	chr8:99248322-99248696	Hela-S3	cervix:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
43	CEBPB	chr8:99251904-99252240	IMR90	lung:	n/a	chr8:99252071-99252082
44	CEBPB	chr8:99248328-99248693	A549	lung:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
45	CEBPB	chr8:99248291-99248692	K562	blood:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
46	CEBPB	chr8:99241490-99241835	IMR90	lung:	n/a	chr8:99241656-99241667
47	CEBPB	chr8:99248365-99248621	HepG2	liver:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
48	CEBPB	chr8:99244227-99244554	K562	blood:	n/a	n/a
49	CEBPB	chr8:99248309-99248682	H1-hESC	embryonic stem cell:	n/a	chr8:99248488-99248501 chr8:99248485-99248502 chr8:99248490-99248499 chr8:99248489-99248500 chr8:99248490-99248499 chr8:99248513-99248524 chr8:99248512-99248525 chr8:99248490-99248499
50	CEBPB	chr8:99244190-99244526	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99259528-99259578	NHDF-neo	bronchial:	n/a
2	chr8:99259528-99259578	NHDF-neo	bronchial:	n/a
3	chr8:99258458-99258508	NH-A	brain:	n/a
4	chr8:99224903-99224953	GM06990	blood:	n/a
5	chr8:99224903-99224953	Hela-S3	cervix:	n/a
6	chr8:99259528-99259578	HRPEpiC	eye:	n/a
7	chr8:99258458-99258508	Caco-2	colon:	n/a
8	chr8:99224903-99224953	NH-A	brain:	n/a
9	chr8:99224903-99224953	IMR90	lung:	fetal
10	chr8:99224903-99224953	PrEC	prostate:	n/a
11	chr8:99259528-99259578	NH-A	brain:	n/a
12	chr8:99224903-99224953	HL-60	blood:	n/a
13	chr8:99259528-99259578	Hepatocyte	liver:	n/a
14	chr8:99259528-99259578	CMK	blood:	n/a
15	chr8:99224903-99224953	Hepatocyte	liver:	n/a
16	chr8:99224903-99224953	HAEpiC	amniotic membrane:	n/a
17	chr8:99224903-99224953	HRPEpiC	eye:	n/a
18	chr8:99224903-99224953	K562	blood:	n/a
19	chr8:99259528-99259578	AG09309	skin:	n/a
20	chr8:99258458-99258508	BE2_C	brain:	n/a
21	chr8:99259528-99259578	AG10803	skin:	n/a
22	chr8:99258458-99258508	SAEC	small airway:	n/a
23	chr8:99224903-99224953	ProgFib	skin:	n/a
24	chr8:99259528-99259578	AG04449	skin:	fetal
25	chr8:99259528-99259578	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:99224903-99224953	HEEpiC	esophagus:	n/a
27	chr8:99224903-99224953	AG10803	skin:	n/a
28	chr8:99224903-99224953	NHDF-neo	bronchial:	n/a
29	chr8:99258458-99258508	LNCaP	prostate:	n/a
30	chr8:99259528-99259578	PANC-1	pancreas:	n/a
31	chr8:99224903-99224953	HMEC	breast:	n/a
32	chr8:99258458-99258508	HMEC	breast:	n/a
33	chr8:99258458-99258508	T-47D	breast:	n/a
34	chr8:99259528-99259578	MCF-7	breast:	n/a
35	chr8:99224903-99224953	HRCEpiC	kidney:	n/a
36	chr8:99258458-99258508	HRE	kidney:	n/a
37	chr8:99258458-99258508	MCF-7	breast:	n/a
38	chr8:99224903-99224953	HNPCEpiC	eye:	n/a
39	chr8:99259528-99259578	ECC-1	luminal epithelium:	n/a
40	chr8:99258458-99258508	HCT-116	colon:	n/a
41	chr8:99258458-99258508	SKMC	muscle:	n/a
42	chr8:99224903-99224953	A549	lung:	n/a
43	chr8:99259528-99259578	SAEC	small airway:	n/a
44	chr8:99224903-99224953	GM12892	blood:	n/a
45	chr8:99258458-99258508	HCPEpiC	choroid plexus:	n/a
46	chr8:99224903-99224953	HRE	kidney:	n/a
47	chr8:99259528-99259578	IMR90	lung:	fetal
48	chr8:99259528-99259578	AG04450	lung:	fetal
49	chr8:99224903-99224953	PANC-1	pancreas:	n/a
50	chr8:99259528-99259578	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99223515..99225249-chr8:99231760..99233868,2	MCF-7	breast:
2	chr8:99260188..99262511-chr8:99265064..99267419,2	MCF-7	breast:
3	chr8:99241307..99248169-chr8:99249290..99255267,8	MCF-7	breast:
4	chr8:99226088..99229255-chr8:99302979..99306348,3	MCF-7	breast:
5	chr8:99253906..99256435-chr8:99304423..99307392,3	MCF-7	breast:
6	chr8:99252888..99255324-chr8:99266845..99268571,2	MCF-7	breast:
7	chr8:99230718..99233097-chr8:99234726..99236492,2	MCF-7	breast:
8	chr8:99241307..99248169-chr8:99249290..99255267,8	MCF-7	breast:
9	chr8:99253235..99256078-chr8:99270762..99273176,2	MCF-7	breast:
10	chr8:99242185..99245958-chr8:99303328..99307257,4	MCF-7	breast:
11	chr8:99231424..99232978-chr8:99255966..99257992,2	MCF-7	breast:
12	chr8:99251175..99252903-chr8:99308819..99310707,2	MCF-7	breast:
13	chr8:99233406..99236750-chr8:99304645..99308471,3	MCF-7	breast:
14	chr8:99250843..99252908-chr8:99305978..99307837,2	MCF-7	breast:
15	chr8:99231424..99232978-chr8:99255966..99257992,2	MCF-7	breast:
16	chr8:99230718..99233097-chr8:99234726..99236492,2	MCF-7	breast:
17	chr8:99223225..99225357-chr8:99305724..99307688,2	MCF-7	breast:
18	chr8:99255307..99258219-chr8:99258829..99262487,4	MCF-7	breast:
19	chr8:99219727..99222711-chr8:99229918..99232191,2	MCF-7	breast:
20	chr8:99249927..99252814-chr8:99350531..99353250,2	MCF-7	breast:
21	chr8:99219935..99221824-chr8:99271736..99273785,2	MCF-7	breast:
22	chr8:99181959..99182882-chr8:99224161..99224764,2	MCF-7	breast:
23	chr8:99216038..99217556-chr8:99228970..99230613,2	K562	blood:
24	chr8:99247388..99250168-chr8:99250912..99253413,3	MCF-7	breast:
25	chr8:99248772..99250324-chr8:99305067..99306617,2	MCF-7	breast:
26	chr8:99223515..99225249-chr8:99231760..99233868,2	MCF-7	breast:
27	chr8:99252007..99254698-chr8:99262600..99264697,2	MCF-7	breast:
28	chr8:99257413..99259469-chr8:99304006..99307175,3	MCF-7	breast:
29	chr8:99258977..99261249-chr8:99270985..99273813,2	MCF-7	breast:
30	chr8:99262046..99263647-chr8:99281338..99282967,2	MCF-7	breast:
31	chr8:99240258..99242155-chr8:99245029..99246682,2	MCF-7	breast:
32	chr8:99229509..99232339-chr8:99235688..99237647,2	MCF-7	breast:
33	chr8:99239634..99241965-chr8:99304467..99306993,2	MCF-7	breast:
34	chr8:99229509..99232339-chr8:99235688..99237647,2	MCF-7	breast:
35	chr2:115355673..115356403-chr8:99250457..99251272,2	MCF-7	breast:
36	chr8:99250956..99253382-chr8:99305181..99308171,3	MCF-7	breast:
37	chr8:99256959..99259667-chr8:99271247..99273915,3	MCF-7	breast:
38	chr8:99255307..99258219-chr8:99258829..99262487,4	MCF-7	breast:
39	chr8:99224537..99225066-chr8:99370073..99370984,2	MCF-7	breast:
40	chr2:201753010..201755430-chr8:99251184..99254324,3	MCF-7	breast:
41	chr8:99258147..99259845-chr8:99262430..99264831,2	K562	blood:
42	chr8:99221591..99223138-chr8:99230730..99232275,2	MCF-7	breast:
43	chr8:99240258..99242155-chr8:99245029..99246682,2	MCF-7	breast:
44	chr8:99230386..99232899-chr8:99305298..99307446,4	MCF-7	breast:
45	chr8:99219727..99222711-chr8:99229918..99232191,2	MCF-7	breast:
46	chr8:99219998..99222653-chr8:99315063..99317794,2	MCF-7	breast:
47	chr8:99221591..99223138-chr8:99230730..99232275,2	MCF-7	breast:
48	chr8:99230131..99233342-chr8:99304674..99307407,4	MCF-7	breast:
49	chr8:99263299..99265664-chr8:99266196..99268929,2	MCF-7	breast:

Variant related genes	Relation type
NIPAL2	TF binding region
NIPAL2	CpG island
ENSG00000196290	chromatin interactions
ENSG00000104361	chromatin interactions
ENSG00000240344	chromatin interactions

Extended variants
information (count: 1521 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1521 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33923448	chr8:99221674-99221675	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs57822505	chr8:99221696-99221697	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73283720	chr8:99221716-99221717	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368231840	chr8:99221728-99221729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12542608	chr8:99221740-99221741	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142930256	chr8:99221761-99221762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538272241	chr8:99221773-99221774	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115147600	chr8:99221785-99221786	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185403973	chr8:99221797-99221798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2331809	chr8:99221810-99221811	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190377489	chr8:99221845-99221846	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2877495	chr8:99221850-99221851	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs57270310	chr8:99221851-99221852	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112726461	chr8:99221903-99221904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182056380	chr8:99221915-99221916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139502360	chr8:99222105-99222106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554766773	chr8:99222258-99222259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13263648	chr8:99222276-99222277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537232732	chr8:99222279-99222280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556666130	chr8:99222352-99222353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576870384	chr8:99222420-99222421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375141615	chr8:99222449-99222450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545522602	chr8:99222459-99222460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552891855	chr8:99222475-99222476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185153836	chr8:99222495-99222496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542117682	chr8:99222503-99222504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188299820	chr8:99222512-99222513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200023036	chr8:99222533-99222534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147273084	chr8:99222539-99222540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74275392	chr8:99222540-99222541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561879756	chr8:99222565-99222566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181162292	chr8:99222766-99222767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs543585713	chr8:99222785-99222786	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs186403559	chr8:99222876-99222877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs144233323	chr8:99222892-99222893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs574213363	chr8:99222902-99222903	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs566697841	chr8:99223046-99223047	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs191554869	chr8:99223124-99223125	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs16896802	chr8:99223156-99223157	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372757342	chr8:99223157-99223158	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs372257440	chr8:99223174-99223175	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs566039766	chr8:99223181-99223182	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs375587464	chr8:99223227-99223228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528800731	chr8:99223230-99223231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146635285	chr8:99223269-99223270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs77872827	chr8:99223277-99223278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369724640	chr8:99223284-99223285	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552289872	chr8:99223317-99223318	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537296288	chr8:99223318-99223319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557125642	chr8:99223322-99223323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Prostate cancer	22341455	CNVD
Sezary syndrome	18413736	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99198200-99239200	Weak transcription	Lung	lung
3	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:99206600-99224400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:99206600-99239800	Weak transcription	Pancreas	Pancrea
7	chr8:99208000-99227600	Weak transcription	Esophagus	oesophagus
8	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
9	chr8:99213200-99223600	Weak transcription	HMEC	breast
10	chr8:99213200-99225800	Weak transcription	Fetal Heart	heart
11	chr8:99213200-99239800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:99214600-99223400	Weak transcription	NHEK	skin
13	chr8:99215000-99223600	Weak transcription	Gastric	stomach
14	chr8:99215000-99227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:99215400-99225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:99215400-99227600	Weak transcription	Ovary	ovary
17	chr8:99215800-99225000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:99216600-99245400	Weak transcription	Stomach Mucosa	stomach
19	chr8:99216800-99224800	Weak transcription	Left Ventricle	heart
20	chr8:99217000-99229800	Weak transcription	Psoas Muscle	Psoas
21	chr8:99217000-99234400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:99217000-99234600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:99217200-99222800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:99217200-99223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99217200-99229200	Weak transcription	Aorta	Aorta
26	chr8:99217400-99227600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:99217400-99238800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:99217800-99222400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:99217800-99235000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:99217800-99238600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:99218200-99227600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:99218400-99223600	Weak transcription	HSMM	muscle
33	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:99219400-99222400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:99220600-99223600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:99220600-99223800	Weak transcription	Osteobl	bone
37	chr8:99220600-99224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:99220600-99224000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:99220600-99227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:99220600-99234600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:99220800-99224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:99222400-99223000	Enhancers	HUVEC	blood vessel
43	chr8:99222400-99226000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:99222400-99226400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:99222600-99223200	Bivalent Enhancer	Dnd41	blood
46	chr8:99222600-99224000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:99222800-99226200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:99223000-99224200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:99223200-99225000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:99223400-99226200	Enhancers	NHEK	skin

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