Variant report

Variant	nsv1026496
Chromosome Location	chr5:8275119-8681693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1612)
CpG islands
(count:854)
Chromatin interactive
region (count:53)
LncRNA
region (count:58)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1612 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:8456981-8457603	K562	blood:	n/a	n/a
2	ARID3A	chr5:8546002-8546027	K562	blood:	n/a	n/a
3	ATF1	chr5:8457313-8457977	K562	blood:	n/a	n/a
4	ATF1	chr5:8578036-8578244	K562	blood:	n/a	n/a
5	ATF3	chr5:8457266-8457641	K562	blood:	n/a	n/a
6	ATF3	chr5:8457385-8457596	K562	blood:	n/a	n/a
7	ATF3	chr5:8457637-8457977	K562	blood:	n/a	n/a
8	BACH1	chr5:8466094-8466189	K562	blood:	n/a	n/a
9	BACH1	chr5:8667114-8667151	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr5:8354823-8354910	K562	blood:	n/a	chr5:8354847-8354861
11	BACH1	chr5:8349024-8349330	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:8457293-8458414	H1-hESC	embryonic stem cell:	n/a	chr5:8457494-8457508
13	BACH1	chr5:8457330-8458064	K562	blood:	n/a	chr5:8457494-8457508
14	BACH1	chr5:8349146-8349346	K562	blood:	n/a	n/a
15	BATF	chr5:8446312-8446635	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:8435885-8436018	GM12878	blood:	n/a	n/a
17	BHLHE40	chr5:8458233-8458559	K562	blood:	n/a	n/a
18	BHLHE40	chr5:8622560-8622739	HepG2	liver:	n/a	n/a
19	BHLHE40	chr5:8474568-8474666	K562	blood:	n/a	n/a
20	BHLHE40	chr5:8457355-8458387	HepG2	liver:	n/a	n/a
21	BHLHE40	chr5:8456851-8458022	K562	blood:	n/a	n/a
22	BRCA1	chr5:8458210-8458271	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr5:8457088-8457928	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr5:8470624-8470962	K562	blood:	n/a	n/a
25	CBX3	chr5:8456740-8458011	K562	blood:	n/a	n/a
26	CBX3	chr5:8457263-8457681	K562	blood:	n/a	n/a
27	CBX3	chr5:8470621-8470920	K562	blood:	n/a	n/a
28	CCNT2	chr5:8457339-8458513	K562	blood:	n/a	chr5:8458274-8458283
29	CEBPB	chr5:8541037-8541334	HepG2	liver:	n/a	chr5:8541208-8541219
30	CEBPB	chr5:8576225-8576508	Hela-S3	cervix:	n/a	chr5:8576391-8576402
31	CEBPB	chr5:8576249-8576499	IMR90	lung:	n/a	chr5:8576391-8576402
32	CEBPB	chr5:8587655-8588007	IMR90	lung:	n/a	n/a
33	CEBPB	chr5:8591877-8592159	A549	lung:	n/a	chr5:8591930-8591943 chr5:8591977-8591988
34	CEBPB	chr5:8413227-8413457	HepG2	liver:	n/a	chr5:8413335-8413346
35	CEBPB	chr5:8576166-8576478	H1-hESC	embryonic stem cell:	n/a	chr5:8576391-8576402
36	CEBPB	chr5:8341361-8341412	K562	blood:	n/a	n/a
37	CEBPB	chr5:8609172-8609456	HepG2	liver:	n/a	chr5:8609323-8609334 chr5:8609323-8609336
38	CEBPB	chr5:8665158-8665231	K562	blood:	n/a	n/a
39	CEBPB	chr5:8609171-8609387	A549	lung:	n/a	chr5:8609323-8609334 chr5:8609323-8609336
40	CEBPB	chr5:8310751-8310962	HepG2	liver:	n/a	chr5:8310830-8310841
41	CEBPB	chr5:8676917-8677291	HepG2	liver:	n/a	chr5:8677094-8677105
42	CEBPB	chr5:8576335-8576460	K562	blood:	n/a	chr5:8576391-8576402
43	CEBPB	chr5:8413197-8413466	A549	lung:	n/a	chr5:8413335-8413346
44	CEBPB	chr5:8591878-8592107	HepG2	liver:	n/a	chr5:8591930-8591943 chr5:8591977-8591988
45	CEBPB	chr5:8587724-8588014	HepG2	liver:	n/a	n/a
46	CEBPB	chr5:8587820-8587839	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr5:8676915-8677281	A549	lung:	n/a	chr5:8677094-8677105
48	CEBPB	chr5:8676922-8677270	K562	blood:	n/a	chr5:8677094-8677105
49	CEBPB	chr5:8426178-8426545	MCF-7	breast:	n/a	n/a
50	CEBPB	chr5:8541033-8541332	A549	lung:	n/a	chr5:8541208-8541219

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:8621010-8621060	K562	blood:	n/a
2	chr5:8462139-8462189	NH-A	brain:	n/a
3	chr5:8457548-8457598	HRE	kidney:	n/a
4	chr5:8458089-8458139	ovcar-3	ovarian:	n/a
5	chr5:8621010-8621060	HRE	kidney:	n/a
6	chr5:8457970-8458020	PANC-1	pancreas:	n/a
7	chr5:8457721-8457771	T-47D	breast:	n/a
8	chr5:8621127-8621177	T-47D	breast:	n/a
9	chr5:8458089-8458139	U87	brain:	n/a
10	chr5:8461041-8461091	ProgFib	skin:	n/a
11	chr5:8621010-8621060	Hela-S3	cervix:	n/a
12	chr5:8457729-8457779	NHDF-neo	bronchial:	n/a
13	chr5:8457548-8457598	HEK293	kidney:	embryo
14	chr5:8457721-8457771	GM06990	blood:	n/a
15	chr5:8462139-8462189	HCT-116	colon:	n/a
16	chr5:8461041-8461091	HepG2	liver:	n/a
17	chr5:8461832-8461882	H1-hESC	embryonic stem cell:	embryo
18	chr5:8456584-8456634	AG09309	skin:	n/a
19	chr5:8621010-8621060	SK-N-SH_RA	brain:	n/a
20	chr5:8457818-8457868	CMK	blood:	n/a
21	chr5:8458089-8458139	NT2-D1	testis:	n/a
22	chr5:8458392-8458442	HEK293	kidney:	embryo
23	chr5:8462139-8462189	NT2-D1	testis:	n/a
24	chr5:8457721-8457771	SK-N-SH	brain:	n/a
25	chr5:8621127-8621177	SKMC	muscle:	n/a
26	chr5:8461041-8461091	SK-N-MC	brain:	n/a
27	chr5:8621010-8621060	NHBE	bronchial:	n/a
28	chr5:8621221-8621271	HAEpiC	amniotic membrane:	n/a
29	chr5:8457721-8457771	GM12878	blood:	n/a
30	chr5:8458392-8458442	HUVEC	blood vessel:	n/a
31	chr5:8621010-8621060	BJ	skin:	n/a
32	chr5:8457729-8457779	RPTEC	kidney:	n/a
33	chr5:8457721-8457771	HNPCEpiC	eye:	n/a
34	chr5:8457721-8457771	HIPEpiC	eye:	n/a
35	chr5:8457970-8458020	HAEpiC	amniotic membrane:	n/a
36	chr5:8621127-8621177	PANC-1	pancreas:	n/a
37	chr5:8458089-8458139	HNPCEpiC	eye:	n/a
38	chr5:8457818-8457868	GM12892	blood:	n/a
39	chr5:8461832-8461882	SK-N-MC	brain:	n/a
40	chr5:8456584-8456634	MCF-7	breast:	n/a
41	chr5:8457729-8457779	HNPCEpiC	eye:	n/a
42	chr5:8457548-8457598	ovcar-3	ovarian:	n/a
43	chr5:8457721-8457771	HUVEC	blood vessel:	n/a
44	chr5:8458392-8458442	NH-A	brain:	n/a
45	chr5:8458392-8458442	HCM	heart:	n/a
46	chr5:8456584-8456634	AG04450	lung:	fetal
47	chr5:8456584-8456634	Hela-S3	cervix:	n/a
48	chr5:8458089-8458139	HEEpiC	esophagus:	n/a
49	chr5:8457721-8457771	NH-A	brain:	n/a
50	chr5:8457818-8457868	IMR90	lung:	fetal

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:41463656..41466177-chr5:8424542..8427523,2	MCF-7	breast:
2	chr5:8641727..8643790-chr5:8675458..8678330,2	K562	blood:
3	chr5:8593087..8595132-chr5:8597589..8599233,2	K562	blood:
4	chr5:8472940..8473440-chr7:72649624..72650127,2	Hela-S3	cervix:
5	chr5:8340568..8341488-chr5:8395221..8395752,2	MCF-7	breast:
6	chr5:8451906..8454974-chr5:8455165..8458746,3	K562	blood:
7	chr5:8456789..8458556-chr5:8461393..8463555,2	MCF-7	breast:
8	chr5:8507041..8510012-chr5:8511674..8514146,2	K562	blood:
9	chr5:8326714..8328797-chr5:8452465..8455003,2	K562	blood:
10	chr5:8339414..8342023-chr5:8348336..8350620,2	K562	blood:
11	chr5:8340568..8341488-chr5:8395221..8395752,2	MCF-7	breast:
12	chr11:62608642..62609503-chr5:8457394..8458109,3	Hela-S3	cervix:
13	chr5:8486955..8488830-chr5:8517823..8520241,2	MCF-7	breast:
14	chr15:65588273..65588991-chr5:8674806..8675306,2	Hela-S3	cervix:
15	chr5:8340161..8341518-chr5:8426060..8426931,4	MCF-7	breast:
16	chr5:8507041..8510012-chr5:8511674..8514146,2	K562	blood:
17	chr5:8435771..8437570-chr5:8440279..8442267,2	K562	blood:
18	chr17:59817376..59818116-chr5:8562940..8563758,2	MCF-7	breast:
19	chr5:8462445..8464940-chr5:8473267..8475894,2	K562	blood:
20	chr5:8384067..8386100-chr5:8387873..8389491,2	K562	blood:
21	chr17:41380454..41382056-chr5:8424522..8426042,2	K562	blood:
22	chr17:41398647..41403327-chr5:8424523..8427522,6	K562	blood:
23	chr5:8247458..8248066-chr5:8425960..8426700,2	MCF-7	breast:
24	chr17:36002985..36003673-chr5:8457586..8458291,2	Hela-S3	cervix:
25	chr5:8462445..8464940-chr5:8473267..8475894,2	K562	blood:
26	chr5:8455948..8459329-chr5:8460368..8463674,5	K562	blood:
27	chr5:8486955..8488830-chr5:8517823..8520241,2	MCF-7	breast:
28	chr17:41380556..41383320-chr5:8424542..8426042,2	K562	blood:
29	chr17:41463804..41465376-chr5:8424543..8427523,2	K562	blood:
30	chr5:8428561..8430944-chr5:8432470..8435197,2	MCF-7	breast:
31	chr5:8461759..8464771-chr5:8466218..8469670,3	K562	blood:
32	chr5:8455618..8458508-chr5:8467454..8469231,2	MCF-7	breast:
33	chr5:8436070..8438257-chr5:8440471..8442267,2	K562	blood:
34	chr5:8456935..8459076-chr5:8488179..8490717,2	K562	blood:
35	chr5:7927628..7928513-chr5:8394887..8395661,2	MCF-7	breast:
36	chr5:8455948..8459329-chr5:8460368..8463674,5	K562	blood:
37	chr5:8339414..8342023-chr5:8348336..8350620,2	K562	blood:
38	chr5:8593087..8595132-chr5:8597589..8599233,2	K562	blood:
39	chr5:8383168..8386100-chr5:8387532..8389491,3	K562	blood:
40	chr20:44563204..44564063-chr5:8461812..8462367,2	Hela-S3	cervix:
41	chr5:8384067..8386100-chr5:8387873..8389491,2	K562	blood:
42	chr5:8436070..8438257-chr5:8440471..8442267,2	K562	blood:
43	chr5:8383168..8386100-chr5:8387532..8389491,3	K562	blood:
44	chr5:8340161..8341518-chr5:8426060..8426931,4	MCF-7	breast:
45	chr5:8461759..8464771-chr5:8466218..8469670,3	K562	blood:
46	chr5:8428561..8430944-chr5:8432470..8435197,2	MCF-7	breast:
47	chr5:8641727..8643790-chr5:8675458..8678330,2	K562	blood:
48	chr5:8457078..8459207-chr5:8461943..8464823,4	K562	blood:
49	chr5:8326714..8328797-chr5:8452465..8455003,2	K562	blood:
50	chr5:8435771..8437570-chr5:8440279..8442267,2	K562	blood:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-4	chr5:8528623-8528790	XLOC_004285
2	lnc-FASTKD3-1	chr5:8433968-8434085	ENSG00000249159
3	lnc-FASTKD3-1	chr5:8457562-8457677	NONHSAT100283
4	lnc-MTRR-4	chr5:8533758-8534042	XLOC_004285
5	lnc-SEMA5A-10	chr5:8460226-8460932	NONHSAT100292
6	lnc-FASTKD3-1	chr5:8337294-8337408	NONHSAT100283
7	lnc-MTRR-4	chr5:8528589-8528785	NONHSAT100296
8	lnc-MTRR-4	chr5:8528623-8528791	XLOC_004285
9	lnc-MTRR-12	chr5:8510804-8510879	ucscGeneNc_uc003jei_2
10	lnc-FASTKD3-1	chr5:8457562-8457688	NONHSAT100287
11	lnc-FASTKD3-1	chr5:8440640-8440822	ucscGeneNc_uc003jeh_1
12	lnc-FASTKD3-1	chr5:8452336-8452393	NONHSAT100283
13	lnc-MTRR-4	chr5:8525270-8525456	NONHSAT100296
14	lnc-FASTKD3-1	chr5:8337294-8337408	ENSG00000245729
15	lnc-MTRR-15	chr5:8616097-8616381	l_2871_chr5:8578246-8630138_testes
16	lnc-FASTKD3-1	chr5:8457562-8457671	ENSG00000245729
17	lnc-FASTKD3-1	chr5:8387640-8387822	NONHSAT100283
18	lnc-FASTKD3-1	chr5:8452336-8452393	ENSG00000249159.2
19	lnc-FASTKD3-1	chr5:8452336-8452393	ENSG00000245729
20	lnc-SEMA5A-8	chr5:8633154-8633448	NONHSAT100304
21	lnc-FASTKD3-1	chr5:8387640-8387822	ENSG00000245729
22	lnc-FASTKD3-1	chr5:8452336-8452393	NONHSAT100287
23	lnc-FASTKD3-1	chr5:8390294-8390408	ucscGeneNc_uc003jeh_1
24	lnc-FASTKD3-1	chr5:8333596-8334565	ENSG00000245729
25	lnc-FASTKD3-1	chr5:8334691-8334839	ENSG00000245729
26	lnc-FASTKD3-1	chr5:8386596-8387565	ucscGeneNc_uc003jeh_1
27	lnc-FASTKD3-6	chr5:8445062-8445648	ENSG00000272049.1
28	lnc-SEMA5A-6	chr5:8669130-8669362	NONHSAT100306
29	lnc-MTRR-15	chr5:8613189-8613331	l_2871_chr5:8578246-8630138_testes
30	lnc-FASTKD3-1	chr5:8446214-8446468	ENSG00000249159.2
31	lnc-MTRR-4	chr5:8525291-8525456	XLOC_004285
32	lnc-FASTKD3-1	chr5:8387691-8387839	ucscGeneNc_uc003jeh_1
33	lnc-FASTKD3-1	chr5:8387751-8387822	ENSG00000249159
34	lnc-SEMA5A-7	chr5:8659876-8660171	NONHSAT100305
35	lnc-FASTKD3-1	chr5:8334691-8334839	NONHSAT100283
36	lnc-FASTKD3-1	chr5:8510562-8510671	ucscGeneNc_uc003jeh_1
37	lnc-FASTKD3-5	chr5:8410902-8411109	NONHSAT100286
38	lnc-MTRR-15	chr5:8578247-8578474	l_2871_chr5:8578246-8630138_testes
39	lnc-FASTKD3-1	chr5:8457562-8457645	ENSG00000249159.2
40	lnc-SEMA5A-11	chr5:8456059-8456671	NONHSAT100289
41	lnc-FASTKD3-1	chr5:8446156-8446468	NONHSAT100287
42	lnc-MTRR-15	chr5:8629950-8630138	l_2871_chr5:8578246-8630138_testes
43	lnc-FASTKD3-1	chr5:8433186-8433261	ENSG00000249159
44	lnc-MTRR-4	chr5:8560189-8560379	XLOC_004285
45	lnc-FASTKD3-1	chr5:8457562-8457677	ENSG00000249159
46	lnc-FASTKD3-1	chr5:8505336-8505393	ucscGeneNc_uc003jeh_1
47	lnc-MTRR-11	chr5:8458955-8459296	NONHSAT100291
48	lnc-MTRR-3	chr5:8460046-8460209	NONHSAT100288
49	lnc-FASTKD3-1	chr5:8452336-8452393	ENSG00000249159
50	lnc-MTRR-4	chr5:8525270-8525456	NONHSAT100297

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4458	chr5:8461046-8461064	MIMAT0018980

No data

Variant related genes	Relation type
ENSG00000245729	TF binding region
ENSG00000250037	TF binding region
ENSG00000248765	TF binding region
MIR4458HG	TF binding region
ENSG00000249159	TF binding region
ENSG00000251549	TF binding region
ENSG00000272049	TF binding region
MTND6P2	TF binding region
ENSG00000249782	TF binding region
ENSG00000245729	CpG island
ENSG00000250037	CpG island
ENSG00000248765	CpG island
MIR4458HG	CpG island
ENSG00000249159	CpG island
ENSG00000251549	CpG island
ENSG00000272049	CpG island
MTND6P2	CpG island
ENSG00000249782	CpG island
ENSG00000247516	chromatin interactions
ENSG00000250037	chromatin interactions
ENSG00000141141	chromatin interactions
ENSG00000267668	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000249159	chromatin interactions
ENSG00000100982	chromatin interactions
ENSG00000245729	chromatin interactions
IER3IP1	miRNA target sites
ARHGAP12	miRNA target sites
HIF1A	miRNA target sites
EIF4G2	miRNA target sites
HHEX	miRNA target sites

Extended variants
information (count: 8803 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:8803 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141423126	chr5:8280800-8280801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560464263	chr5:8280809-8280810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73045048	chr5:8280815-8280816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6880841	chr5:8280840-8280841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546285601	chr5:8280880-8280881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143362798	chr5:8280886-8280887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538994538	chr5:8280915-8280916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527549428	chr5:8280977-8280978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546702184	chr5:8281024-8281025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559110587	chr5:8281053-8281054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1506116	chr5:8281056-8281057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535101574	chr5:8281062-8281063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181151451	chr5:8281065-8281066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60331175	chr5:8281081-8281082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529379375	chr5:8281083-8281084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1506117	chr5:8281086-8281087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1506118	chr5:8281141-8281142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs59742087	chr5:8281154-8281155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76530875	chr5:8281180-8281181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558899642	chr5:8281202-8281203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528205152	chr5:8281270-8281271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114609598	chr5:8281272-8281273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561963196	chr5:8281275-8281276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75747765	chr5:8281292-8281293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550860600	chr5:8281327-8281328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1506119	chr5:8281329-8281330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79721995	chr5:8281348-8281349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186036368	chr5:8281353-8281354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386685245	chr5:8281379-8281380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs70940801	chr5:8281380-8281381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111773714	chr5:8281393-8281394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552633634	chr5:8281472-8281473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566064909	chr5:8281475-8281476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58737768	chr5:8281482-8281483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376167301	chr5:8281501-8281502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61607420	chr5:8281509-8281510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188931675	chr5:8281514-8281515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555528323	chr5:8288030-8288031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79574392	chr5:8288126-8288127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142500585	chr5:8288161-8288162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531260524	chr5:8288189-8288190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114112107	chr5:8288200-8288201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573897254	chr5:8289001-8289002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561948253	chr5:8289003-8289004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73045069	chr5:8289065-8289066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1506125	chr5:8289122-8289123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368819673	chr5:8289123-8289124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183275066	chr5:8289152-8289153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4607327	chr5:8289159-8289160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187826454	chr5:8289170-8289171	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8280800-8281600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:8288000-8288200	Enhancers	Fetal Lung	lung
3	chr5:8289000-8290200	Enhancers	Fetal Brain Male	brain
4	chr5:8289200-8289600	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:8291600-8291800	Enhancers	Fetal Muscle Leg	muscle
6	chr5:8292200-8292600	Enhancers	Fetal Muscle Leg	muscle
7	chr5:8299800-8300200	Enhancers	Fetal Lung	lung
8	chr5:8306400-8306800	Enhancers	Spleen	Spleen
9	chr5:8317000-8317400	Enhancers	Fetal Brain Male	brain
10	chr5:8326800-8330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:8327000-8327600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:8327000-8328200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:8327200-8327600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:8327200-8328200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:8327600-8328000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:8327800-8328000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:8327800-8328200	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:8328000-8328200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:8328000-8328400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:8328000-8328600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:8328200-8328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:8328200-8329000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:8328200-8329400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:8328200-8333600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:8328800-8333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:8329000-8329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:8331800-8332000	Enhancers	Fetal Muscle Leg	muscle
28	chr5:8332200-8332400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:8332600-8333600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:8333000-8333400	Enhancers	Fetal Stomach	stomach
31	chr5:8333000-8334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:8333400-8334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:8333600-8334600	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:8333600-8334600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:8333800-8334200	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:8333800-8334600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:8334000-8334600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:8334000-8334600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:8334000-8334600	Enhancers	Fetal Muscle Leg	muscle
40	chr5:8334200-8334400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr5:8334200-8334600	Enhancers	Brain Hippocampus Middle	brain
42	chr5:8334400-8334600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:8334600-8336000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:8334600-8340600	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:8335200-8340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:8336000-8337000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:8340200-8340400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:8340200-8340800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:8340200-8341000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:8340200-8341000	Enhancers	Brain Cingulate Gyrus	brain

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