Variant report

Variant	nsv1058661
Chromosome Location	chr18:12280366-12313865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1532)
CpG islands
(count:976)
Chromatin interactive
region (count:62)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1532 , 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	chr18:12283842-12284050	K562	blood:	n/a	n/a
2	ARID3A	chr18:12296190-12296321	K562	blood:	n/a	n/a
3	ARID3A	chr18:12302616-12302941	K562	blood:	n/a	n/a
4	ATF1	chr18:12283761-12284023	K562	blood:	n/a	n/a
5	ATF3	chr18:12289135-12289361	K562	blood:	n/a	n/a
6	ATF3	chr18:12308511-12308958	K562	blood:	n/a	chr18:12308809-12308818
7	ATF3	chr18:12308652-12308918	K562	blood:	n/a	chr18:12308809-12308818
8	BACH1	chr18:12313201-12313203	K562	blood:	n/a	n/a
9	BACH1	chr18:12308723-12309057	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr18:12307314-12307921	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr18:12288917-12289182	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr18:12306350-12306435	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr18:12312503-12312516	K562	blood:	n/a	n/a
14	BACH1	chr18:12308665-12309007	K562	blood:	n/a	n/a
15	BACH1	chr18:12287996-12288224	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr18:12313647-12313685	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr18:12309568-12310047	GM12878	blood:	n/a	n/a
18	BATF	chr18:12308593-12308983	GM12878	blood:	n/a	chr18:12308779-12308790
19	BATF	chr18:12308678-12308952	GM12878	blood:	n/a	chr18:12308779-12308790
20	BATF	chr18:12309577-12310044	GM12878	blood:	n/a	n/a
21	BCL11A	chr18:12308627-12308890	GM12878	blood:	n/a	chr18:12308808-12308817 chr18:12308802-12308815
22	BCL3	chr18:12309697-12309959	GM12878	blood:	n/a	n/a
23	BHLHE40	chr18:12304985-12305198	K562	blood:	n/a	n/a
24	BHLHE40	chr18:12308214-12308412	K562	blood:	n/a	n/a
25	BHLHE40	chr18:12287822-12288595	K562	blood:	n/a	chr18:12287853-12287869 chr18:12287850-12287866
26	BHLHE40	chr18:12308643-12309027	K562	blood:	n/a	n/a
27	BHLHE40	chr18:12297552-12297736	K562	blood:	n/a	n/a
28	BHLHE40	chr18:12308828-12308887	GM12878	blood:	n/a	n/a
29	BHLHE40	chr18:12289198-12289279	K562	blood:	n/a	n/a
30	BHLHE40	chr18:12283235-12283404	K562	blood:	n/a	n/a
31	BHLHE40	chr18:12306223-12306488	K562	blood:	n/a	n/a
32	BHLHE40	chr18:12309768-12310039	GM12878	blood:	n/a	n/a
33	BHLHE40	chr18:12302440-12303122	K562	blood:	n/a	n/a
34	BHLHE40	chr18:12307140-12307571	GM12878	blood:	n/a	chr18:12307319-12307340 chr18:12307323-12307336
35	BHLHE40	chr18:12296050-12296342	K562	blood:	n/a	n/a
36	BHLHE40	chr18:12307999-12308082	GM12878	blood:	n/a	chr18:12308033-12308049
37	BRCA1	chr18:12288027-12288340	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr18:12308587-12309050	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr18:12309639-12309702	GM12878	blood:	n/a	n/a
40	CBX3	chr18:12302355-12302851	K562	blood:	n/a	n/a
41	CBX3	chr18:12308630-12309042	K562	blood:	n/a	n/a
42	CBX3	chr18:12312414-12312677	K562	blood:	n/a	n/a
43	CBX3	chr18:12302484-12302827	K562	blood:	n/a	n/a
44	CBX3	chr18:12312353-12312770	K562	blood:	n/a	n/a
45	CBX3	chr18:12296027-12296400	K562	blood:	n/a	n/a
46	CBX3	chr18:12308571-12309030	K562	blood:	n/a	n/a
47	CCNT2	chr18:12287927-12288392	K562	blood:	n/a	n/a
48	CCNT2	chr18:12307860-12309004	K562	blood:	n/a	chr18:12308540-12308549
49	CCNT2	chr18:12306184-12306645	K562	blood:	n/a	n/a
50	CCNT2	chr18:12302509-12302762	K562	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12308339-12308389	K562	blood:	n/a
2	chr18:12307329-12307379	HepG2	liver:	n/a
3	chr18:12283427-12283477	NHDF-neo	bronchial:	n/a
4	chr18:12307649-12307699	BE2_C	brain:	n/a
5	chr18:12287385-12287435	GM12878	blood:	n/a
6	chr18:12287385-12287435	NHDF-neo	bronchial:	n/a
7	chr18:12283427-12283477	SAEC	small airway:	n/a
8	chr18:12304803-12304853	HCT-116	colon:	n/a
9	chr18:12288264-12288314	NHBE	bronchial:	n/a
10	chr18:12291249-12291299	GM06990	blood:	n/a
11	chr18:12309071-12309121	Caco-2	colon:	n/a
12	chr18:12287173-12287223	HCM	heart:	n/a
13	chr18:12308812-12308862	T-47D	breast:	n/a
14	chr18:12306837-12306887	NB4	blood:	n/a
15	chr18:12307630-12307680	PFSK-1	brain:	n/a
16	chr18:12304803-12304853	GM06990	blood:	n/a
17	chr18:12287385-12287435	ProgFib	skin:	n/a
18	chr18:12306837-12306887	HEK293	kidney:	embryo
19	chr18:12308377-12308427	HCF	heart:	n/a
20	chr18:12308377-12308427	HRPEpiC	eye:	n/a
21	chr18:12307329-12307379	A549	lung:	n/a
22	chr18:12307630-12307680	CMK	blood:	n/a
23	chr18:12288264-12288314	HMEC	breast:	n/a
24	chr18:12283427-12283477	MCF10A-Er-Src	breast:	n/a
25	chr18:12287275-12287325	HepG2	liver:	n/a
26	chr18:12287173-12287223	GM06990	blood:	n/a
27	chr18:12307630-12307680	A549	lung:	n/a
28	chr18:12287173-12287223	SK-N-SH_RA	brain:	n/a
29	chr18:12287561-12287611	SK-N-SH_RA	brain:	n/a
30	chr18:12283427-12283477	H1-hESC	embryonic stem cell:	embryo
31	chr18:12308339-12308389	SKMC	muscle:	n/a
32	chr18:12308339-12308389	AG09319	gingival:	n/a
33	chr18:12308812-12308862	GM06990	blood:	n/a
34	chr18:12307329-12307379	SKMC	muscle:	n/a
35	chr18:12309071-12309121	BJ	skin:	n/a
36	chr18:12288264-12288314	HPAEpiC	pulmonary alveolar:	n/a
37	chr18:12308339-12308389	HEEpiC	esophagus:	n/a
38	chr18:12287173-12287223	HRCEpiC	kidney:	n/a
39	chr18:12291249-12291299	A549	lung:	n/a
40	chr18:12308377-12308427	MCF-7	breast:	n/a
41	chr18:12287385-12287435	ovcar-3	ovarian:	n/a
42	chr18:12307329-12307379	HCM	heart:	n/a
43	chr18:12283427-12283477	NHBE	bronchial:	n/a
44	chr18:12287385-12287435	SKMC	muscle:	n/a
45	chr18:12287173-12287223	NHDF-neo	bronchial:	n/a
46	chr18:12288264-12288314	A549	lung:	n/a
47	chr18:12307630-12307680	PrEC	prostate:	n/a
48	chr18:12309071-12309121	HCF	heart:	n/a
49	chr18:12307649-12307699	HEK293	kidney:	embryo
50	chr18:12288264-12288314	SKMC	muscle:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:11850419..11853228-chr18:12278563..12280532,2	K562	blood:
2	chr18:12306891..12312604-chr18:12376208..12378768,5	K562	blood:
3	chr18:12282293..12284100-chr18:12288664..12290381,2	MCF-7	breast:
4	chr18:12281847..12285413-chr18:12286066..12289370,4	MCF-7	breast:
5	chr18:12279096..12281383-chr18:12306708..12308820,2	MCF-7	breast:
6	chr18:12289075..12291340-chr18:12294128..12296061,2	MCF-7	breast:
7	chr18:12307367..12309512-chr18:12310463..12312362,3	MCF-7	breast:
8	chr18:12276259..12278951-chr18:12284988..12286490,2	K562	blood:
9	chr18:12281440..12284374-chr18:12307536..12311164,3	K562	blood:
10	chr18:12312290..12313035-chr18:12320340..12321330,2	K562	blood:
11	chr18:12308151..12309049-chr7:100025997..100026635,2	Hela-S3	cervix:
12	chr18:12280564..12282806-chr18:12308373..12310089,2	MCF-7	breast:
13	chr18:12307823..12308792-chr7:152160863..152161673,3	Hela-S3	cervix:
14	chr18:12285413..12287780-chr18:12306956..12309734,2	K562	blood:
15	chr16:14726227..14727008-chr18:12308782..12309306,2	Hela-S3	cervix:
16	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:
17	chr18:12284795..12287188-chr18:12289941..12291759,2	K562	blood:
18	chr18:12280564..12282806-chr18:12308373..12310089,2	MCF-7	breast:
19	chr18:12305088..12307512-chr18:12313207..12314857,2	MCF-7	breast:
20	chr18:12295731..12298495-chr18:12304376..12306859,2	MCF-7	breast:
21	chr18:12305088..12307512-chr18:12313207..12314857,2	MCF-7	breast:
22	chr18:12283381..12284992-chr18:12702355..12703907,2	K562	blood:
23	chr18:12300999..12303281-chr18:12308137..12310057,2	MCF-7	breast:
24	chr18:12295731..12298495-chr18:12304376..12306859,2	MCF-7	breast:
25	chr18:12278124..12280961-chr18:12313263..12315293,2	K562	blood:
26	chr18:12300205..12301767-chr18:12360649..12362884,2	K562	blood:
27	chr18:12284795..12287188-chr18:12289941..12291759,2	K562	blood:
28	chr18:12311231..12313531-chr18:12374709..12376964,3	K562	blood:
29	chr18:12305189..12307531-chr18:12348513..12350554,2	K562	blood:
30	chr18:12283750..12286656-chr18:12370266..12373091,2	K562	blood:
31	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:
32	chr18:12308206..12308971-chr2:172016511..172017011,2	Hela-S3	cervix:
33	chr18:12274162..12275837-chr18:12279387..12281024,2	MCF-7	breast:
34	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:
35	chr18:12289075..12291340-chr18:12294128..12296061,2	MCF-7	breast:
36	chr18:12291981..12293994-chr18:12306663..12308783,2	MCF-7	breast:
37	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
38	chr18:12297799..12300084-chr18:12375103..12377083,2	K562	blood:
39	chr18:12307869..12309956-chr18:12375801..12377728,3	MCF-7	breast:
40	chr18:12306558..12308875-chr18:12376128..12379112,4	MCF-7	breast:
41	chr18:12305251..12310573-chr18:12373540..12378768,12	K562	blood:
42	chr18:12313329..12315227-chr18:12335610..12338278,2	K562	blood:
43	chr18:12270534..12272784-chr18:12301768..12304074,2	K562	blood:
44	chr18:12307737..12309568-chr20:45947449..45950208,2	MCF-7	breast:
45	chr18:12300402..12301963-chr18:12307170..12309315,2	MCF-7	breast:
46	chr18:12284886..12287018-chr18:12289577..12291293,2	MCF-7	breast:
47	chr18:12293630..12298544-chr18:12303108..12309947,8	K562	blood:
48	chr18:12305136..12307294-chr18:12373188..12375992,2	K562	blood:
49	chr18:12282475..12288140-chr18:12305542..12311210,9	K562	blood:
50	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIDEA-4	chr18:12281102-12281507	l_1533_chr18:12278494-12281507_breast
2	lnc-CIDEA-1	chr18:12288307-12288653	ENSG00000267069.1
3	lnc-CIDEA-1	chr18:12291102-12291487	ENSG00000267069.1
4	lnc-CIDEA-1	chr18:12288322-12288653	XLOC_012631
5	lnc-CIDEA-1	chr18:12291102-12291290	XLOC_012631
6	lnc-CIDEA-4	chr18:12279426-12282738	NONHSAT058361

No data

Variant related genes	Relation type
ENSG00000267069	TF binding region
RNU6-170P	TF binding region
TUBB6	TF binding region
ENSG00000267069	CpG island
RNU6-170P	CpG island
TUBB6	CpG island
ENSG00000215527	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000267165	chromatin interactions
ENSG00000142230	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000140694	chromatin interactions
ENSG00000198586	chromatin interactions
ENSG00000255112	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000103429	chromatin interactions
ENSG00000176014	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000261455	chromatin interactions
ENSG00000199702	chromatin interactions
ENSG00000130749	chromatin interactions
ENSG00000267069	chromatin interactions
ABCC1	miRNA target sites
ABCB7	miRNA target sites

Extended variants
information (count: 1425 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550922970	chr18:12280375-12280376	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs535679063	chr18:12280406-12280407	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs553672471	chr18:12280475-12280476	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs555614399	chr18:12280492-12280493	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs573839127	chr18:12280527-12280528	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs535956076	chr18:12280542-12280543	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs557476747	chr18:12280558-12280559	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs189328390	chr18:12280566-12280567	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs546214415	chr18:12280567-12280568	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs115659512	chr18:12280570-12280571	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs573224786	chr18:12280581-12280582	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs540493199	chr18:12280597-12280598	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs561957718	chr18:12280602-12280603	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs529402684	chr18:12280637-12280638	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs140728094	chr18:12280648-12280649	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs562634820	chr18:12280667-12280668	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs150097600	chr18:12280711-12280712	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs551376653	chr18:12280769-12280770	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs114183052	chr18:12280813-12280814	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs73415115	chr18:12280822-12280823	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549250590	chr18:12280861-12280862	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs567563482	chr18:12280905-12280906	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs369578461	chr18:12280909-12280910	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs564211213	chr18:12280915-12280916	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs538079676	chr18:12280918-12280919	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs6505744	chr18:12280922-12280923	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs57913719	chr18:12280944-12280945	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs181232536	chr18:12280953-12280954	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs558149489	chr18:12280974-12280975	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs572863153	chr18:12280999-12281000	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs200385879	chr18:12281045-12281046	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs186477614	chr18:12281070-12281071	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs188757902	chr18:12281073-12281074	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs56845585	chr18:12281084-12281085	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs563732288	chr18:12281085-12281086	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs397751229	chr18:12281095-12281096	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs573975847	chr18:12281129-12281130	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs141905081	chr18:12281169-12281170	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs12327155	chr18:12281170-12281171	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs547305025	chr18:12281215-12281216	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs533061737	chr18:12281230-12281231	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs146270631	chr18:12281244-12281245	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs181492507	chr18:12281263-12281264	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs527329312	chr18:12281267-12281268	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs548990593	chr18:12281297-12281298	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs565600834	chr18:12281305-12281306	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs8092997	chr18:12281322-12281323	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549963093	chr18:12281335-12281336	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs571324201	chr18:12281350-12281351	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs75729503	chr18:12281355-12281356	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1625 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12277000-12281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr18:12278200-12280400	Enhancers	Lung	lung
3	chr18:12278200-12280400	Flanking Active TSS	HSMM	muscle
4	chr18:12278200-12284200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr18:12278400-12280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:12278400-12280400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12278400-12280400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr18:12278600-12280400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12278600-12280400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr18:12278600-12280400	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr18:12278800-12281600	Weak transcription	NHEK	skin
12	chr18:12279200-12281000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:12279200-12283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:12279400-12280600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:12279400-12280600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:12279600-12280400	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr18:12279600-12280600	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr18:12279600-12284200	Enhancers	Placenta	Placenta
19	chr18:12279600-12287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12279800-12280400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:12279800-12280400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:12279800-12280400	Enhancers	Adipose Nuclei	Adipose
23	chr18:12279800-12280400	Enhancers	Brain Anterior Caudate	brain
24	chr18:12279800-12280400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr18:12279800-12280400	Enhancers	HMEC	breast
26	chr18:12279800-12280800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr18:12279800-12280800	Flanking Active TSS	Fetal Heart	heart
28	chr18:12279800-12280800	Enhancers	Fetal Lung	lung
29	chr18:12279800-12281000	Enhancers	Fetal Stomach	stomach
30	chr18:12279800-12281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:12279800-12281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:12279800-12281800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:12279800-12282200	Weak transcription	Hela-S3	cervix
34	chr18:12279800-12282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr18:12279800-12282400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:12279800-12283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr18:12279800-12283400	Enhancers	NHLF	lung
38	chr18:12279800-12284200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:12280000-12280400	Enhancers	HUVEC	blood vessel
40	chr18:12280000-12280600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:12280000-12280600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr18:12280000-12280600	Enhancers	NHDF-Ad	bronchial
43	chr18:12280000-12281800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:12280000-12281800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:12280000-12281800	Enhancers	NH-A	brain
46	chr18:12280000-12282000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:12280000-12282000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:12280000-12282200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:12280000-12282400	Weak transcription	HepG2	liver
50	chr18:12280000-12284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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