Variant report

Variant	nsv1057034
Chromosome Location	chr18:65686626-66533259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4027)
CpG islands
(count:1467)
Chromatin interactive
region (count:26)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:11)

(count:4027 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:66508141-66508524	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:65845401-65845751	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:66514617-66514849	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:66381867-66382853	HepG2	liver:	n/a	n/a
5	ATF1	chr18:66004329-66004513	K562	blood:	n/a	n/a
6	ATF1	chr18:66372382-66372582	K562	blood:	n/a	n/a
7	ATF2	chr18:65816079-65816448	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr18:66382072-66382842	GM12878	blood:	n/a	n/a
9	ATF2	chr18:65816013-65816483	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr18:66382254-66382523	K562	blood:	n/a	chr18:66382348-66382357
11	ATF3	chr18:66382320-66382666	A549	lung:	n/a	chr18:66382348-66382357
12	BACH1	chr18:65815072-65815334	H1-hESC	embryonic stem cell:	n/a	chr18:65815167-65815181
13	BACH1	chr18:66076249-66076372	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr18:66508106-66508495	H1-hESC	embryonic stem cell:	n/a	chr18:66508261-66508275
15	BACH1	chr18:66381492-66382723	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr18:65815062-65815155	K562	blood:	n/a	n/a
17	BACH1	chr18:65750379-65750688	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr18:66099176-66099280	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr18:66464609-66464755	H1-hESC	embryonic stem cell:	n/a	chr18:66464692-66464706
20	BATF	chr18:66381070-66381347	GM12878	blood:	n/a	chr18:66381199-66381210
21	BCL3	chr18:66382251-66382645	GM12878	blood:	n/a	n/a
22	BCLAF1	chr18:66381805-66382516	GM12878	blood:	n/a	chr18:66381965-66381978 chr18:66382026-66382039 chr18:66382022-66382035 chr18:66382024-66382033 chr18:66382021-66382030 chr18:66381970-66381979 chr18:66382023-66382036
23	BCLAF1	chr18:66382173-66382555	K562	blood:	n/a	n/a
24	BCLAF1	chr18:66382062-66382781	GM12878	blood:	n/a	n/a
25	BHLHE40	chr18:66380573-66380630	GM12878	blood:	n/a	n/a
26	BHLHE40	chr18:66382195-66382642	K562	blood:	n/a	n/a
27	BHLHE40	chr18:66382197-66382721	HepG2	liver:	n/a	n/a
28	BHLHE40	chr18:66382120-66382679	GM12878	blood:	n/a	n/a
29	BHLHE40	chr18:66402962-66403269	GM12878	blood:	n/a	n/a
30	BHLHE40	chr18:66381631-66381964	K562	blood:	n/a	n/a
31	BHLHE40	chr18:65994092-65994109	GM12878	blood:	n/a	n/a
32	BHLHE40	chr18:66187692-66187845	GM12878	blood:	n/a	n/a
33	BHLHE40	chr18:66327688-66327831	GM12878	blood:	n/a	n/a
34	BRCA1	chr18:66396703-66396798	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr18:66382290-66382519	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr18:66382235-66383229	Hela-S3	cervix:	n/a	chr18:66383137-66383144
37	BRCA1	chr18:66467833-66467971	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr18:66424927-66424950	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr18:66382171-66382624	K562	blood:	n/a	n/a
40	CCNT2	chr18:66488341-66488468	K562	blood:	n/a	n/a
41	CCNT2	chr18:66381994-66382592	K562	blood:	n/a	chr18:66382348-66382357
42	CEBPB	chr18:66508158-66508489	ECC-1	luminal epithelium:	n/a	chr18:66508312-66508323
43	CEBPB	chr18:65701837-65702041	HepG2	liver:	n/a	chr18:65701980-65701991
44	CEBPB	chr18:66446437-66446777	ECC-1	luminal epithelium:	n/a	chr18:66446627-66446640 chr18:66446629-66446638 chr18:66446611-66446624 chr18:66446629-66446638 chr18:66446664-66446677 chr18:66446629-66446638
45	CEBPB	chr18:66156948-66157277	IMR90	lung:	n/a	chr18:66157089-66157100
46	CEBPB	chr18:66103732-66104109	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr18:66156953-66157280	Hela-S3	cervix:	n/a	chr18:66157089-66157100
48	CEBPB	chr18:66508124-66508478	HepG2	liver:	n/a	chr18:66508312-66508323
49	CEBPB	chr18:66021571-66021669	HepG2	liver:	n/a	chr18:66021647-66021660
50	CEBPB	chr18:66365213-66365374	K562	blood:	n/a	chr18:66365271-66365280 chr18:66365269-66365280

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:66382559-66382609	CMK	blood:	n/a
2	chr18:66381343-66381393	Caco-2	colon:	n/a
3	chr18:66464360-66464410	HCT-116	colon:	n/a
4	chr18:66382559-66382609	CMK	blood:	n/a
5	chr18:66381343-66381393	Caco-2	colon:	n/a
6	chr18:66464360-66464410	HCT-116	colon:	n/a
7	chr18:66504389-66504439	ProgFib	skin:	n/a
8	chr18:66465334-66465384	ProgFib	skin:	n/a
9	chr18:66382559-66382609	NH-A	brain:	n/a
10	chr18:66471057-66471107	T-47D	breast:	n/a
11	chr18:66382465-66382515	SK-N-SH_RA	brain:	n/a
12	chr18:66382077-66382127	SK-N-SH_RA	brain:	n/a
13	chr18:66471057-66471107	HCM	heart:	n/a
14	chr18:66389420-66389470	ovcar-3	ovarian:	n/a
15	chr18:66382439-66382489	HUVEC	blood vessel:	n/a
16	chr18:66382471-66382521	NH-A	brain:	n/a
17	chr18:66382226-66382276	H1-hESC	embryonic stem cell:	embryo
18	chr18:66382471-66382521	NHBE	bronchial:	n/a
19	chr18:66504389-66504439	T-47D	breast:	n/a
20	chr18:66385707-66385757	H1-hESC	embryonic stem cell:	embryo
21	chr18:66343052-66343102	PANC-1	pancreas:	n/a
22	chr18:66382421-66382471	SK-N-SH_RA	brain:	n/a
23	chr18:66382559-66382609	RPTEC	kidney:	n/a
24	chr18:66382496-66382546	PrEC	prostate:	n/a
25	chr18:66382465-66382515	Hepatocyte	liver:	n/a
26	chr18:66382465-66382515	HCT-116	colon:	n/a
27	chr18:66382439-66382489	AG09319	gingival:	n/a
28	chr18:66504226-66504276	AG09319	gingival:	n/a
29	chr18:66464360-66464410	HUVEC	blood vessel:	n/a
30	chr18:66383305-66383355	GM12878	blood:	n/a
31	chr18:66385707-66385757	PFSK-1	brain:	n/a
32	chr18:66382421-66382471	SAEC	small airway:	n/a
33	chr18:66382077-66382127	AoSMC	blood vessel:	n/a
34	chr18:66504389-66504439	AG04449	skin:	fetal
35	chr18:66381343-66381393	ovcar-3	ovarian:	n/a
36	chr18:66385707-66385757	HEEpiC	esophagus:	n/a
37	chr18:66382427-66382477	HepG2	liver:	n/a
38	chr18:66385707-66385757	SKMC	muscle:	n/a
39	chr18:66382439-66382489	RPTEC	kidney:	n/a
40	chr18:66381506-66381556	HIPEpiC	eye:	n/a
41	chr18:66382551-66382601	HMEC	breast:	n/a
42	chr18:66381343-66381393	HEEpiC	esophagus:	n/a
43	chr18:66382496-66382546	ProgFib	skin:	n/a
44	chr18:66504226-66504276	ProgFib	skin:	n/a
45	chr18:66382465-66382515	RPTEC	kidney:	n/a
46	chr18:66382559-66382609	HRCEpiC	kidney:	n/a
47	chr18:66385707-66385757	Jurkat	blood:	n/a
48	chr18:66382496-66382546	HRCEpiC	kidney:	n/a
49	chr18:66382427-66382477	Caco-2	colon:	n/a
50	chr18:66383213-66383263	GM19239	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:66073832..66075932-chr18:66079153..66081553,2	K562	blood:
2	chr18:66382125..66383769-chr18:66394441..66397209,2	K562	blood:
3	chr18:66369591..66372400-chr18:66374483..66376015,2	K562	blood:
4	chr18:66105628..66106128-chr2:128568441..128568985,2	HCT-116	colon:
5	chr18:66523217..66524059-chr18:67151781..67152512,2	MCF-7	breast:
6	chr18:65182620..65183460-chr18:66290374..66290968,3	MCF-7	breast:
7	chr18:66339818..66342739-chr18:66344325..66346493,2	K562	blood:
8	chr18:66382018..66383705-chr18:66384620..66386564,2	K562	blood:
9	chr11:65657672..65659534-chr18:66383439..66385093,2	K562	blood:
10	chr18:66386926..66389249-chr18:66399374..66401429,2	K562	blood:
11	chr18:66386926..66389249-chr18:66399374..66401429,2	K562	blood:
12	chr18:65829262..65829762-chrX:11551081..11551794,2	MCF-7	breast:
13	chr18:66327781..66328412-chr18:66402680..66403212,2	MCF-7	breast:
14	chr18:65182846..65183589-chr18:66327251..66328313,4	MCF-7	breast:
15	chr1:114400021..114400870-chr18:66488575..66489219,2	MCF-7	breast:
16	chr18:64884564..64885500-chr18:66402760..66403613,4	K562	blood:
17	chr18:66339818..66342739-chr18:66344325..66346493,2	K562	blood:
18	chr18:66514431..66515424-chr18:67739789..67740602,2	MCF-7	breast:
19	chr18:66431373..66433505-chr18:66435847..66438585,2	MCF-7	breast:
20	chr18:66073832..66075932-chr18:66079153..66081553,2	K562	blood:
21	chr18:66369591..66372400-chr18:66374483..66376015,2	K562	blood:
22	chr18:64884729..64885392-chr18:66327674..66328214,2	MCF-7	breast:
23	chr18:66431373..66433505-chr18:66435847..66438585,2	MCF-7	breast:
24	chr18:65183072..65183789-chr18:65819833..65820407,2	MCF-7	breast:
25	chr18:66382743..66385032-chr18:66401830..66404688,2	MCF-7	breast:
26	chr18:66327781..66328412-chr18:66402680..66403212,2	MCF-7	breast:

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC102B-9	chr18:66153730-66154431	l_1598_chr18:66153301-66154431_liver
2	lnc-TMX3-2	chr18:65927518-65927611	ENSG00000264699.1
3	lnc-CCDC102B-1	chr18:66401969-66402003	ENSG00000249983
4	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059730
5	lnc-CD226-6	chr18:66367642-66367660	NONHSAT059739
6	lnc-CCDC102B-4	chr18:66103807-66104155	ENSG00000265425.1
7	lnc-CCDC102B-5	chr18:65780867-65780920	ENSG00000264869.1
8	lnc-CCDC102B-5	chr18:65769353-65769392	ENSG00000264869.1
9	lnc-CD226-6	chr18:66364613-66365268	NONHSAT059739
10	lnc-CCDC102B-1	chr18:66382550-66382598	NONHSAT059741
11	lnc-TMX3-3	chr18:66468826-66469118	l_1601_chr18:66460825-66469118_lymphNode
12	lnc-CCDC102B-5	chr18:65773447-65773611	ENSG00000264869.1
13	lnc-CCDC102B-4	chr18:66103648-66103698	ENSG00000265425.1
14	lnc-CCDC102B-9	chr18:66154538-66154720	l_1598_chr18:66153301-66154431_liver
15	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059732
16	lnc-DOK6-6	chr18:66513632-66513658	NONHSAT059743
17	lnc-TMX3-2	chr18:65928862-65928907	NONHSAT059730
18	lnc-CCDC102B-1	chr18:66382446-66382848	NONHSAT059740
19	lnc-CCDC102B-9	chr18:66170195-66170662	l_1598_chr18:66153301-66154431_liver
20	lnc-CCDC102B-5	chr18:65781528-65781614	ENSG00000264869.1
21	lnc-CCDC102B-1	chr18:66383765-66383831	NONHSAT059741
22	lnc-CCDC102B-1	chr18:66401971-66402003	NONHSAT059741
23	lnc-TMX3-5	chr18:66155430-66155525	l_1599_chr18:66153729-66155496_liver
24	lnc-TMX3-3	chr18:66460826-66460939	l_1601_chr18:66460825-66469118_lymphNode
25	lnc-CCDC102B-1	chr18:66420533-66422236	NONHSAT059741
26	lnc-CCDC102B-9	chr18:66158016-66158098	l_1598_chr18:66153301-66154431_liver
27	lnc-TMX3-2	chr18:65927519-65927611	NONHSAT059732
28	lnc-TMX3-5	chr18:66153730-66154431	l_1599_chr18:66153729-66155496_liver
29	lnc-TMX3-1	chr18:66421737-66421820	ENSG00000263637.1
30	lnc-TMX3-2	chr18:65928862-65928907	ENSG00000264699.1
31	lnc-CCDC102B-1	chr18:66420533-66422236	ENSG00000249983
32	lnc-CCDC102B-9	chr18:66153302-66153722	l_1598_chr18:66153301-66154431_liver
33	lnc-TMX3-2	chr18:65930736-65930840	ENSG00000264699.1
34	lnc-TMX3-2	chr18:65907358-65907379	NONHSAT059730
35	lnc-TMX3-2	chr18:65932041-65932064	ENSG00000264699.1
36	lnc-CCDC102B-1	chr18:66383765-66383831	NONHSAT059740
37	lnc-CCDC102B-4	chr18:66100194-66100251	ENSG00000265425.1
38	lnc-CCDC102B-4	chr18:66094267-66094563	ENSG00000265425.1
39	lnc-CCDC102B-1	chr18:66385241-66385367	NONHSAT059740
40	lnc-TMX3-1	chr18:66420416-66420633	ENSG00000263637.1
41	lnc-TMX3-2	chr18:65928862-65928907	NONHSAT059732
42	lnc-TMX3-2	chr18:65925576-65925802	ENSG00000264699.1

No data

(count:11 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TMX3	hsa-miR-590-3p	chr18:66341912-66341931
2	TMX3	hsa-miR-93-5p	chr18:66343720-66343713
3	TMX3	hsa-miR-590-3p	chr18:66358455-66358476
4	TMX3	hsa-miR-590-3p	chr18:66341658-66341681
5	TMX3	hsa-miR-590-3p	chr18:66341918-66341912
6	TMX3	hsa-miR-590-3p	chr18:66343561-66343581
7	TMX3	hsa-miR-590-3p	chr18:66343730-66343724
8	TMX3	hsa-miR-590-3p	chr18:66341983-66342002
9	TMX3	hsa-miR-590-3p	chr18:66343724-66343746
10	TMX3	hsa-miR-93-5p	chr18:66343714-66343736
11	TMX3	hsa-miR-375	chr18:66343916-66343938

Variant related genes	Relation type
CCDC102B	TF binding region
ENSG00000260747	TF binding region
ENSG00000264697	TF binding region
ENSG00000264699	TF binding region
ENSG00000265425	TF binding region
SDHCP1	TF binding region
ENSG00000263637	TF binding region
ENSG00000264869	TF binding region
AKR1B10P2	TF binding region
TMX3	TF binding region
RNU6-39P	TF binding region
CCDC102B	CpG island
ENSG00000260747	CpG island
ENSG00000264697	CpG island
ENSG00000264699	CpG island
ENSG00000265425	CpG island
SDHCP1	CpG island
ENSG00000263637	CpG island
ENSG00000264869	CpG island
AKR1B10P2	CpG island
TMX3	CpG island
RNU6-39P	CpG island
ENSG00000150636	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000265533	chromatin interactions
ENSG00000136709	chromatin interactions
ENSG00000166479	chromatin interactions
MTMR14	miRNA target sites
PFAS	miRNA target sites

Extended variants
information (count: 24193 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:24193 , 50 per page) page: 1 2 3 4 5 6 7 ... 484

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534327058	chr18:65691216-65691217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531914250	chr18:65691222-65691223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372036259	chr18:65691223-65691224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201727457	chr18:65691238-65691239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536957712	chr18:65691240-65691241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111456305	chr18:65691249-65691250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143652529	chr18:65691255-65691256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201264582	chr18:65691256-65691257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199928860	chr18:65691257-65691258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs68035648	chr18:65691258-65691259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71172948	chr18:65691281-65691282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377686865	chr18:65691305-65691306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7232579	chr18:65691318-65691319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538347586	chr18:65691415-65691416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116286981	chr18:65691448-65691449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17078451	chr18:65691479-65691480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181204762	chr18:65691497-65691498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537816107	chr18:65691537-65691538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186225990	chr18:65691553-65691554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143722242	chr18:65691555-65691556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189696753	chr18:65691601-65691602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577307164	chr18:65691602-65691603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541518336	chr18:65691628-65691629	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560413249	chr18:65691661-65691662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555011906	chr18:65691708-65691709	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12104053	chr18:65691711-65691712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535051979	chr18:65691721-65691722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375207082	chr18:65691841-65691842	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148101232	chr18:65691845-65691846	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561120007	chr18:65691863-65691864	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553381294	chr18:65691867-65691868	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76145601	chr18:65691926-65691927	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141844715	chr18:65691962-65691963	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115626800	chr18:65691964-65691965	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575032537	chr18:65691974-65691975	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147243750	chr18:65692005-65692006	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367658077	chr18:65692013-65692014	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182047638	chr18:65692040-65692041	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139817087	chr18:65692053-65692054	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548473945	chr18:65692134-65692135	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34578102	chr18:65692156-65692157	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187792316	chr18:65692208-65692209	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570371252	chr18:65692229-65692230	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190755022	chr18:65692239-65692240	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558939575	chr18:65692240-65692241	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570731271	chr18:65692242-65692243	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535141981	chr18:65692246-65692247	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553466925	chr18:65692248-65692249	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367911162	chr18:65692272-65692273	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4583369	chr18:65692295-65692296	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:98)

Disease	PMID	Source
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Burkitt''s lymphoma	18698080	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Testicular germ cell tumor	18059402	CNVD
Glioblastoma	21080181	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Colorectal cancer	16912164	CNVD
Intracranial aneurysm	16715129	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Gastric cancer	22539939	CNVD
Ovarian cancer	20844748	CNVD
Squamous cell cancer	20885788	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	21811587	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:3767 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:65691200-65691600	Enhancers	Fetal Brain Male	brain
2	chr18:65691400-65691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:65691400-65691800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:65691400-65691800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:65691600-65692000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:65691600-65692000	Enhancers	HSMM	muscle
7	chr18:65691600-65692400	Enhancers	Adipose Nuclei	Adipose
8	chr18:65691800-65692200	Enhancers	Osteobl	bone
9	chr18:65691800-65692400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:65691800-65692400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr18:65692000-65692200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:65698600-65698800	Enhancers	NHDF-Ad	bronchial
13	chr18:65698800-65700200	Weak transcription	NHDF-Ad	bronchial
14	chr18:65700200-65701000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:65700200-65701400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:65700200-65701600	Enhancers	NHEK	skin
17	chr18:65700200-65702600	Enhancers	NHDF-Ad	bronchial
18	chr18:65700400-65700600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:65700400-65701000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:65700400-65701400	Enhancers	HMEC	breast
21	chr18:65700400-65702400	Enhancers	NHLF	lung
22	chr18:65700600-65700800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:65700600-65701600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:65700800-65701000	Enhancers	Aorta	Aorta
25	chr18:65700800-65701200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:65700800-65701400	Enhancers	Fetal Lung	lung
27	chr18:65700800-65701800	Enhancers	Fetal Stomach	stomach
28	chr18:65701000-65701600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:65701200-65701600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:65701400-65701600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:65701400-65703000	Weak transcription	Fetal Lung	lung
32	chr18:65701600-65703200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:65701600-65703400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:65701800-65702200	Weak transcription	Fetal Stomach	stomach
35	chr18:65701800-65703000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:65702200-65704800	Enhancers	Fetal Stomach	stomach
37	chr18:65702400-65703600	Weak transcription	NHLF	lung
38	chr18:65703000-65703600	Enhancers	Ovary	ovary
39	chr18:65703000-65703800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:65703000-65703800	Enhancers	Fetal Lung	lung
41	chr18:65703600-65703800	Enhancers	NHLF	lung
42	chr18:65704000-65708200	Weak transcription	Aorta	Aorta
43	chr18:65708000-65708400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:65708000-65709400	Enhancers	HSMM	muscle
45	chr18:65708200-65708400	ZNF genes & repeats	Aorta	Aorta
46	chr18:65718000-65719400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr18:65718200-65718400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr18:65718400-65718800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr18:65718400-65719000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr18:65718400-65719200	Enhancers	HUES6 Cell Line	embryonic stem cell

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