Variant report

Variant	nsv543641
Chromosome Location	chr18:9120450-9181498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1506)
CpG islands
(count:732)
Chromatin interactive
region (count:84)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1506 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:9136404-9136757	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:9135808-9136013	K562	blood:	n/a	n/a
3	ARID3A	chr18:9147804-9148215	K562	blood:	n/a	n/a
4	ARID3A	chr18:9136447-9136673	K562	blood:	n/a	n/a
5	ARID3A	chr18:9135696-9136039	HepG2	liver:	n/a	n/a
6	ATF1	chr18:9157891-9157988	K562	blood:	n/a	n/a
7	ATF1	chr18:9135779-9136091	K562	blood:	n/a	n/a
8	ATF2	chr18:9135793-9136174	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr18:9136107-9136415	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr18:9135590-9137096	GM12878	blood:	n/a	n/a
11	ATF2	chr18:9143649-9144293	GM12878	blood:	n/a	n/a
12	ATF2	chr18:9143629-9144274	GM12878	blood:	n/a	n/a
13	ATF3	chr18:9136478-9136960	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr18:9136600-9136893	GM12878	blood:	n/a	n/a
15	ATF3	chr18:9136553-9136994	HepG2	liver:	n/a	n/a
16	ATF3	chr18:9136476-9137007	GM12878	blood:	n/a	n/a
17	ATF3	chr18:9136442-9136940	K562	blood:	n/a	chr18:9136459-9136479
18	ATF3	chr18:9136505-9136965	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr18:9136551-9137010	K562	blood:	n/a	n/a
20	ATF3	chr18:9136563-9136937	HepG2	liver:	n/a	n/a
21	BACH1	chr18:9136277-9136688	K562	blood:	n/a	n/a
22	BACH1	chr18:9135875-9136745	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr18:9143650-9144001	GM12878	blood:	n/a	n/a
24	BATF	chr18:9140446-9140652	GM12878	blood:	n/a	n/a
25	BATF	chr18:9143746-9143985	GM12878	blood:	n/a	n/a
26	BATF	chr18:9173638-9174013	GM12878	blood:	n/a	chr18:9173845-9173856
27	BCL11A	chr18:9143651-9143954	GM12878	blood:	n/a	n/a
28	BCL3	chr18:9135770-9137110	GM12878	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
29	BCL3	chr18:9135488-9137165	K562	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
30	BCLAF1	chr18:9143651-9144074	GM12878	blood:	n/a	n/a
31	BCLAF1	chr18:9137319-9138210	GM12878	blood:	n/a	chr18:9137453-9137466
32	BCLAF1	chr18:9135689-9137178	GM12878	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
33	BCLAF1	chr18:9135756-9137092	GM12878	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
34	BCLAF1	chr18:9137310-9138220	GM12878	blood:	n/a	chr18:9137453-9137466
35	BCLAF1	chr18:9143550-9144052	GM12878	blood:	n/a	n/a
36	BCLAF1	chr18:9139675-9140162	GM12878	blood:	n/a	n/a
37	BCLAF1	chr18:9147804-9148364	GM12878	blood:	n/a	n/a
38	BHLHE40	chr18:9136537-9136955	HepG2	liver:	n/a	chr18:9136608-9136624
39	BHLHE40	chr18:9120862-9121085	GM12878	blood:	n/a	n/a
40	BHLHE40	chr18:9140386-9140680	GM12878	blood:	n/a	n/a
41	BHLHE40	chr18:9136580-9136904	HepG2	liver:	n/a	chr18:9136608-9136624
42	BHLHE40	chr18:9147785-9148276	GM12878	blood:	n/a	n/a
43	BHLHE40	chr18:9135799-9137881	HepG2	liver:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
44	BHLHE40	chr18:9135800-9138071	K562	blood:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
45	BHLHE40	chr18:9135643-9138175	GM12878	blood:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
46	BHLHE40	chr18:9136432-9136926	A549	lung:	n/a	chr18:9136608-9136624
47	BRCA1	chr18:9135801-9136902	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr18:9136870-9136896	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr18:9136393-9136941	HepG2	liver:	n/a	n/a
50	BRCA1	chr18:9136430-9136663	H1-hESC	embryonic stem cell:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9136852-9136902	IMR90	lung:	fetal
2	chr18:9136556-9136606	A549	lung:	n/a
3	chr18:9136381-9136431	A549	lung:	n/a
4	chr18:9137949-9137999	HCM	heart:	n/a
5	chr18:9136381-9136431	ovcar-3	ovarian:	n/a
6	chr18:9135843-9135893	HNPCEpiC	eye:	n/a
7	chr18:9136565-9136615	AG09309	skin:	n/a
8	chr18:9141063-9141113	HRCEpiC	kidney:	n/a
9	chr18:9136598-9136648	GM12891	blood:	n/a
10	chr18:9136852-9136902	MCF10A-Er-Src	breast:	n/a
11	chr18:9136381-9136431	GM12891	blood:	n/a
12	chr18:9135843-9135893	MCF-7	breast:	n/a
13	chr18:9132487-9132537	HRCEpiC	kidney:	n/a
14	chr18:9136603-9136653	HAEpiC	amniotic membrane:	n/a
15	chr18:9136852-9136902	T-47D	breast:	n/a
16	chr18:9136711-9136761	IMR90	lung:	fetal
17	chr18:9136556-9136606	Caco-2	colon:	n/a
18	chr18:9136556-9136606	MCF-7	breast:	n/a
19	chr18:9132487-9132537	ECC-1	luminal epithelium:	n/a
20	chr18:9135843-9135893	NH-A	brain:	n/a
21	chr18:9141063-9141113	HUVEC	blood vessel:	n/a
22	chr18:9135843-9135893	ProgFib	skin:	n/a
23	chr18:9136556-9136606	Hela-S3	cervix:	n/a
24	chr18:9141063-9141113	HAEpiC	amniotic membrane:	n/a
25	chr18:9136603-9136653	U87	brain:	n/a
26	chr18:9135843-9135893	HIPEpiC	eye:	n/a
27	chr18:9136556-9136606	HCM	heart:	n/a
28	chr18:9132487-9132537	SK-N-SH_RA	brain:	n/a
29	chr18:9137949-9137999	RPTEC	kidney:	n/a
30	chr18:9135843-9135893	NT2-D1	testis:	n/a
31	chr18:9136603-9136653	AoSMC	blood vessel:	n/a
32	chr18:9135843-9135893	A549	lung:	n/a
33	chr18:9136603-9136653	HL-60	blood:	n/a
34	chr18:9136598-9136648	HRPEpiC	eye:	n/a
35	chr18:9137021-9137071	ovcar-3	ovarian:	n/a
36	chr18:9136603-9136653	NH-A	brain:	n/a
37	chr18:9136381-9136431	PFSK-1	brain:	n/a
38	chr18:9136565-9136615	HEEpiC	esophagus:	n/a
39	chr18:9136711-9136761	HCF	heart:	n/a
40	chr18:9136381-9136431	HRCEpiC	kidney:	n/a
41	chr18:9136598-9136648	BJ	skin:	n/a
42	chr18:9136598-9136648	GM12892	blood:	n/a
43	chr18:9137949-9137999	SK-N-MC	brain:	n/a
44	chr18:9136598-9136648	AoSMC	blood vessel:	n/a
45	chr18:9136603-9136653	LNCaP	prostate:	n/a
46	chr18:9136852-9136902	HIPEpiC	eye:	n/a
47	chr18:9136603-9136653	SK-N-MC	brain:	n/a
48	chr18:9141063-9141113	NT2-D1	testis:	n/a
49	chr18:9136711-9136761	ECC-1	luminal epithelium:	n/a
50	chr18:9141063-9141113	HRPEpiC	eye:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:9012557..9014644-chr18:9143805..9146448,2	K562	blood:
2	chr18:9175098..9178757-chr18:9180431..9183034,3	K562	blood:
3	chr18:9118153..9120041-chr18:9126919..9129587,2	K562	blood:
4	chr18:9121016..9123178-chr18:9135451..9137656,3	MCF-7	breast:
5	chr18:9143953..9145593-chr18:9149699..9152459,2	MCF-7	breast:
6	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
7	chr18:9017215..9020121-chr18:9143322..9145391,2	K562	blood:
8	chr18:9143953..9145593-chr18:9149699..9152459,2	MCF-7	breast:
9	chr18:9138656..9141235-chr18:9149570..9151773,2	MCF-7	breast:
10	chr18:9134476..9136443-chr18:9150419..9152468,2	K562	blood:
11	chr18:9142397..9144914-chr18:9146594..9148410,2	K562	blood:
12	chr18:9021031..9023837-chr18:9149339..9151203,2	K562	blood:
13	chr1:149857838..149858809-chr18:9136877..9137598,2	Hela-S3	cervix:
14	chr18:9072068..9073744-chr18:9148593..9150663,2	MCF-7	breast:
15	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
16	chr18:9136650..9138896-chr18:9149233..9152038,3	MCF-7	breast:
17	chr18:9136777..9139021-chr18:9215479..9217327,2	K562	blood:
18	chr18:9137627..9140441-chr18:9161165..9162837,2	K562	blood:
19	chr18:9173327..9175448-chr18:9180789..9183492,2	K562	blood:
20	chr18:8704166..8706937-chr18:9136436..9139051,3	MCF-7	breast:
21	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
22	chr18:9114265..9115952-chr18:9154606..9156860,2	K562	blood:
23	chr18:9073419..9074239-chr18:9147700..9148986,7	MCF-7	breast:
24	chr18:9150679..9153194-chr18:9154073..9157031,2	K562	blood:
25	chr18:9142518..9147121-chr18:9149107..9151760,6	K562	blood:
26	chr18:9102444..9104093-chr18:9117938..9120762,2	MCF-7	breast:
27	chr18:9139215..9141477-chr18:9155271..9156901,2	K562	blood:
28	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
29	chr18:9139649..9142253-chr18:9181980..9184460,2	K562	blood:
30	chr18:9142518..9147121-chr18:9149107..9151760,6	K562	blood:
31	chr18:9126958..9128578-chr18:9134629..9136413,2	MCF-7	breast:
32	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
33	chr18:9117343..9119164-chr18:9132921..9135865,2	K562	blood:
34	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
35	chr18:9095858..9098422-chr18:9138833..9140543,2	MCF-7	breast:
36	chr18:9137564..9140546-chr18:9188464..9190895,2	MCF-7	breast:
37	chr18:9143163..9146307-chr18:9148846..9151084,3	K562	blood:
38	chr18:9120335..9122312-chr18:9122344..9126216,3	MCF-7	breast:
39	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
40	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
41	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
42	chr18:9146619..9148558-chr18:9153184..9154759,2	K562	blood:
43	chr18:9137052..9139682-chr18:9153888..9155527,2	MCF-7	breast:
44	chr18:9177075..9179067-chr18:9181095..9183827,3	K562	blood:
45	chr18:9136798..9138761-chr18:9150520..9152733,3	K562	blood:
46	chr18:9073390..9073893-chr18:9147662..9148364,2	MCF-7	breast:
47	chr18:9137627..9140441-chr18:9161165..9162837,2	K562	blood:
48	chr18:9012734..9014456-chr18:9130363..9132462,2	K562	blood:
49	chr18:9138656..9141235-chr18:9149570..9151773,2	MCF-7	breast:
50	chr18:9142397..9144914-chr18:9146594..9148410,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP4R1-4	chr18:9132221-9132407	ENSG00000266053.1
2	lnc-PPP4R1-4	chr18:9121275-9121454	ENSG00000266053.1
3	lnc-PPP4R1-4	chr18:9135711-9136489	ENSG00000266053.2
4	lnc-PPP4R1-4	chr18:9133389-9133420	ENSG00000266053.1

No data

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000266053	TF binding region
ANKRD12	TF binding region
ENSG00000263847	TF binding region
NDUFV2	CpG island
ENSG00000266053	CpG island
ANKRD12	CpG island
ENSG00000263847	CpG island
ENSG00000266053	chromatin interactions
ENSG00000263847	chromatin interactions
ENSG00000178127	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000206418	chromatin interactions
ENSG00000141101	chromatin interactions
ENSG00000168502	chromatin interactions
ENSG00000265257	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000264964	chromatin interactions
ENSG00000143157	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000101745	chromatin interactions
ENSG00000099624	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000242058	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 2604 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2604 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531573453	chr18:9120484-9120485	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs146484678	chr18:9120508-9120509	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557742397	chr18:9120552-9120553	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183862763	chr18:9120554-9120555	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540171664	chr18:9120584-9120585	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs567956161	chr18:9120587-9120588	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561892756	chr18:9120626-9120627	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551822641	chr18:9120631-9120632	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144043974	chr18:9120670-9120671	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs3837901	chr18:9120671-9120672	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs71168031	chr18:9120672-9120673	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529103060	chr18:9120696-9120697	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374975397	chr18:9120707-9120708	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs544677614	chr18:9120711-9120712	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs563012532	chr18:9120741-9120742	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs533362749	chr18:9120781-9120782	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551780875	chr18:9120790-9120791	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188455715	chr18:9120868-9120869	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs527625092	chr18:9120902-9120903	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs547609238	chr18:9120910-9120911	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs527955211	chr18:9120919-9120920	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs139992358	chr18:9121009-9121010	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540916461	chr18:9121019-9121020	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs142223960	chr18:9121028-9121029	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs201478651	chr18:9121060-9121061	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs151209188	chr18:9121086-9121087	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs376426195	chr18:9121089-9121090	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs568636697	chr18:9121093-9121094	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs140455587	chr18:9121113-9121114	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs557701251	chr18:9121156-9121157	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs73390109	chr18:9121222-9121223	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150392900	chr18:9121293-9121294	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
33	rs555709999	chr18:9121336-9121337	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs561086240	chr18:9121347-9121348	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs112790638	chr18:9121375-9121376	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs529778036	chr18:9121404-9121405	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs145273382	chr18:9121411-9121412	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs533504856	chr18:9121439-9121440	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs111553655	chr18:9121448-9121449	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs545188647	chr18:9121459-9121460	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs560511919	chr18:9121468-9121469	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs193037038	chr18:9121496-9121497	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs549640365	chr18:9121499-9121500	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs561291086	chr18:9121520-9121521	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs549574014	chr18:9121589-9121590	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs34195580	chr18:9121626-9121627	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs569752989	chr18:9121635-9121636	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs531764664	chr18:9121655-9121656	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs184272055	chr18:9121691-9121692	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs538198134	chr18:9121692-9121693	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:2475 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
6	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
7	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
9	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
12	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
13	chr18:9114000-9121000	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:9114000-9123200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:9114000-9123400	Weak transcription	Fetal Intestine Small	intestine
16	chr18:9114000-9127400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:9114000-9130800	Weak transcription	Ovary	ovary
18	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:9115800-9134800	Strong transcription	Dnd41	blood
20	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
21	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
22	chr18:9117400-9123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:9117400-9125800	Weak transcription	Right Atrium	heart
24	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
25	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
27	chr18:9117400-9135800	Weak transcription	Gastric	stomach
28	chr18:9117600-9123400	Weak transcription	Left Ventricle	heart
29	chr18:9117600-9123400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr18:9117600-9127400	Weak transcription	Spleen	Spleen
31	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
33	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
34	chr18:9117800-9122400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr18:9117800-9124000	Strong transcription	HepG2	liver
36	chr18:9117800-9127200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr18:9117800-9128800	Weak transcription	Lung	lung
38	chr18:9117800-9132600	Weak transcription	Aorta	Aorta
39	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
42	chr18:9118200-9121400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
43	chr18:9118200-9124400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:9118200-9134400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr18:9118400-9121400	Genic enhancers	Liver	Liver
47	chr18:9118400-9134400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:9118600-9120800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr18:9118600-9121000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr18:9118600-9121400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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