Variant report

Variant	nsv870342
Chromosome Location	chr18:12270808-12295798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1331)
CpG islands
(count:733)
Chromatin interactive
region (count:52)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1331 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

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	ATF1	chr18:12283761-12284023	K562	blood:	n/a	n/a
3	ATF3	chr18:12271946-12272136	K562	blood:	n/a	n/a
4	ATF3	chr18:12271664-12271907	K562	blood:	n/a	n/a
5	ATF3	chr18:12289135-12289361	K562	blood:	n/a	n/a
6	BACH1	chr18:12287996-12288224	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr18:12271462-12271884	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr18:12271834-12272054	K562	blood:	n/a	n/a
9	BACH1	chr18:12288917-12289182	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr18:12289198-12289279	K562	blood:	n/a	n/a
11	BHLHE40	chr18:12271762-12272153	GM12878	blood:	n/a	chr18:12271872-12271888 chr18:12271886-12271902
12	BHLHE40	chr18:12283235-12283404	K562	blood:	n/a	n/a
13	BHLHE40	chr18:12271514-12272112	K562	blood:	n/a	chr18:12271872-12271888 chr18:12271886-12271902
14	BHLHE40	chr18:12287822-12288595	K562	blood:	n/a	chr18:12287853-12287869 chr18:12287850-12287866
15	BRCA1	chr18:12271824-12271846	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr18:12271673-12272115	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr18:12288027-12288340	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr18:12278210-12278728	HCT-116	colon:	n/a	n/a
19	CBX3	chr18:12271581-12272001	K562	blood:	n/a	n/a
20	CBX3	chr18:12278105-12278711	HCT-116	colon:	n/a	n/a
21	CBX3	chr18:12271877-12272117	K562	blood:	n/a	n/a
22	CCNT2	chr18:12271589-12272038	K562	blood:	n/a	n/a
23	CCNT2	chr18:12287927-12288392	K562	blood:	n/a	n/a
24	CEBPB	chr18:12279124-12279537	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr18:12271658-12271838	HepG2	liver:	n/a	n/a
26	CEBPB	chr18:12289121-12289443	IMR90	lung:	n/a	chr18:12289289-12289300
27	CEBPB	chr18:12293253-12293324	HepG2	liver:	n/a	chr18:12293269-12293280
28	CEBPB	chr18:12290211-12290411	HepG2	liver:	n/a	n/a
29	CEBPB	chr18:12288125-12288386	Hela-S3	cervix:	n/a	chr18:12288287-12288299
30	CEBPB	chr18:12289193-12289376	K562	blood:	n/a	chr18:12289289-12289300
31	CEBPB	chr18:12289139-12289442	H1-hESC	embryonic stem cell:	n/a	chr18:12289289-12289300
32	CEBPB	chr18:12279075-12279632	IMR90	lung:	n/a	n/a
33	CEBPB	chr18:12289105-12289479	K562	blood:	n/a	chr18:12289289-12289300
34	CEBPB	chr18:12279105-12279511	HepG2	liver:	n/a	n/a
35	CEBPB	chr18:12279164-12279506	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr18:12279134-12279486	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr18:12294485-12294537	IMR90	lung:	n/a	n/a
38	CEBPB	chr18:12288339-12288479	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr18:12271607-12272132	Hela-S3	cervix:	n/a	chr18:12272053-12272065
40	CEBPB	chr18:12282399-12282768	IMR90	lung:	n/a	n/a
41	CEBPB	chr18:12279218-12279368	HepG2	liver:	n/a	n/a
42	CEBPB	chr18:12279259-12279405	K562	blood:	n/a	n/a
43	CEBPB	chr18:12289135-12289436	HepG2	liver:	n/a	chr18:12289289-12289300
44	CEBPB	chr18:12279151-12279515	HepG2	liver:	n/a	n/a
45	CEBPB	chr18:12288100-12288244	K562	blood:	n/a	n/a
46	CEBPB	chr18:12289029-12289433	K562	blood:	n/a	chr18:12289289-12289300
47	CEBPB	chr18:12271554-12272056	K562	blood:	n/a	n/a
48	CEBPD	chr18:12289039-12289459	K562	blood:	n/a	n/a
49	CEBPD	chr18:12283734-12284211	K562	blood:	n/a	n/a
50	CEBPD	chr18:12289202-12289467	K562	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12287561-12287611	HEEpiC	esophagus:	n/a
2	chr18:12287561-12287611	HEEpiC	esophagus:	n/a
3	chr18:12271803-12271853	Hepatocyte	liver:	n/a
4	chr18:12271697-12271747	SK-N-MC	brain:	n/a
5	chr18:12271803-12271853	U87	brain:	n/a
6	chr18:12287173-12287223	NHDF-neo	bronchial:	n/a
7	chr18:12277384-12277434	HPAEpiC	pulmonary alveolar:	n/a
8	chr18:12288264-12288314	GM12892	blood:	n/a
9	chr18:12287173-12287223	HUVEC	blood vessel:	n/a
10	chr18:12277384-12277434	IMR90	lung:	fetal
11	chr18:12291249-12291299	NHDF-neo	bronchial:	n/a
12	chr18:12274252-12274302	NT2-D1	testis:	n/a
13	chr18:12271697-12271747	BE2_C	brain:	n/a
14	chr18:12291249-12291299	AG04449	skin:	fetal
15	chr18:12291249-12291299	HAEpiC	amniotic membrane:	n/a
16	chr18:12287275-12287325	BJ	skin:	n/a
17	chr18:12287561-12287611	SKMC	muscle:	n/a
18	chr18:12271803-12271853	HCT-116	colon:	n/a
19	chr18:12271834-12271884	ECC-1	luminal epithelium:	n/a
20	chr18:12287275-12287325	ProgFib	skin:	n/a
21	chr18:12283427-12283477	PrEC	prostate:	n/a
22	chr18:12283427-12283477	HEEpiC	esophagus:	n/a
23	chr18:12274252-12274302	AG09319	gingival:	n/a
24	chr18:12271834-12271884	SAEC	small airway:	n/a
25	chr18:12271697-12271747	HPAEpiC	pulmonary alveolar:	n/a
26	chr18:12271834-12271884	PANC-1	pancreas:	n/a
27	chr18:12288264-12288314	NHBE	bronchial:	n/a
28	chr18:12287275-12287325	HMEC	breast:	n/a
29	chr18:12287275-12287325	K562	blood:	n/a
30	chr18:12288264-12288314	HUVEC	blood vessel:	n/a
31	chr18:12277384-12277434	ovcar-3	ovarian:	n/a
32	chr18:12287385-12287435	MCF-7	breast:	n/a
33	chr18:12271803-12271853	HRCEpiC	kidney:	n/a
34	chr18:12283427-12283477	HMEC	breast:	n/a
35	chr18:12287385-12287435	T-47D	breast:	n/a
36	chr18:12277384-12277434	K562	blood:	n/a
37	chr18:12291249-12291299	HCT-116	colon:	n/a
38	chr18:12271803-12271853	HCPEpiC	choroid plexus:	n/a
39	chr18:12287561-12287611	AG10803	skin:	n/a
40	chr18:12271803-12271853	ovcar-3	ovarian:	n/a
41	chr18:12271834-12271884	IMR90	lung:	fetal
42	chr18:12287385-12287435	BE2_C	brain:	n/a
43	chr18:12287173-12287223	ovcar-3	ovarian:	n/a
44	chr18:12271803-12271853	T-47D	breast:	n/a
45	chr18:12288264-12288314	HRE	kidney:	n/a
46	chr18:12283427-12283477	AG09319	gingival:	n/a
47	chr18:12287275-12287325	GM12878	blood:	n/a
48	chr18:12288264-12288314	AG04450	lung:	fetal
49	chr18:12291249-12291299	T-47D	breast:	n/a
50	chr18:12274252-12274302	SKMC	muscle:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:12281440..12284374-chr18:12307536..12311164,3	K562	blood:
2	chr18:12270534..12272784-chr18:12301768..12304074,2	K562	blood:
3	chr18:12284886..12287018-chr18:12289577..12291293,2	MCF-7	breast:
4	chr18:12280564..12282806-chr18:12308373..12310089,2	MCF-7	breast:
5	chr18:12270328..12273534-chr18:12306877..12309950,3	K562	blood:
6	chr18:12271756..12273282-chr18:13725344..13726895,2	K562	blood:
7	chr18:12284795..12287188-chr18:12289941..12291759,2	K562	blood:
8	chr18:12271566..12272281-chr18:12659989..12660492,2	K562	blood:
9	chr18:12276259..12278951-chr18:12284988..12286490,2	K562	blood:
10	chr18:12274281..12279698-chr18:12305807..12311128,5	K562	blood:
11	chr18:12252606..12254730-chr18:12275388..12277320,2	K562	blood:
12	chr18:12275134..12277766-chr18:12328525..12330528,2	K562	blood:
13	chr18:12271551..12272301-chr18:12308095..12308990,3	MCF-7	breast:
14	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
15	chr18:12270340..12273321-chr18:12306765..12308912,3	MCF-7	breast:
16	chr18:12291981..12293994-chr18:12306663..12308783,2	MCF-7	breast:
17	chr18:12282475..12288140-chr18:12305542..12311210,9	K562	blood:
18	chr18:12282293..12284100-chr18:12288664..12290381,2	MCF-7	breast:
19	chr18:12282293..12284100-chr18:12288664..12290381,2	MCF-7	breast:
20	chr18:12283381..12284992-chr18:12702355..12703907,2	K562	blood:
21	chr18:12265032..12267003-chr18:12270238..12271793,2	K562	blood:
22	chr18:12271753..12272332-chr20:52195070..52195888,2	MCF-7	breast:
23	chr18:12279096..12281383-chr18:12306708..12308820,2	MCF-7	breast:
24	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
25	chr18:12274350..12275873-chr18:12371406..12373710,2	K562	blood:
26	chr18:12285413..12287780-chr18:12306956..12309734,2	K562	blood:
27	chr18:12265032..12267863-chr18:12270238..12271917,4	K562	blood:
28	chr18:12277461..12279428-chr18:12655672..12658036,2	K562	blood:
29	chr18:12289075..12291340-chr18:12294128..12296061,2	MCF-7	breast:
30	chr18:12271750..12274682-chr18:12275072..12276921,2	K562	blood:
31	chr18:12295731..12298495-chr18:12304376..12306859,2	MCF-7	breast:
32	chr18:12269280..12271260-chr18:12375609..12378046,3	K562	blood:
33	chr18:12270234..12271756-chr18:12327004..12329574,2	MCF-7	breast:
34	chr18:12274162..12275837-chr18:12279387..12281024,2	MCF-7	breast:
35	chr18:12284886..12287018-chr18:12289577..12291293,2	MCF-7	breast:
36	chr18:12271750..12274682-chr18:12275072..12276921,2	K562	blood:
37	chr18:12276259..12278951-chr18:12284988..12286490,2	K562	blood:
38	chr18:12289075..12291340-chr18:12294128..12296061,2	MCF-7	breast:
39	chr18:12281847..12285413-chr18:12286066..12289370,4	MCF-7	breast:
40	chr18:12278124..12280961-chr18:12313263..12315293,2	K562	blood:
41	chr18:12269344..12271800-chr18:12376297..12378247,3	K562	blood:
42	chr17:7387282..7388176-chr18:12271509..12272128,2	Hela-S3	cervix:
43	chr18:12293630..12298544-chr18:12303108..12309947,8	K562	blood:
44	chr18:12284795..12287188-chr18:12289941..12291759,2	K562	blood:
45	chr18:12283750..12286656-chr18:12370266..12373091,2	K562	blood:
46	chr18:12271574..12273371-chr18:12275461..12278516,4	MCF-7	breast:
47	chr18:12273069..12275301-chr18:12303503..12305182,2	K562	blood:
48	chr18:12285640..12287691-chr18:12304617..12306840,2	MCF-7	breast:
49	chr18:12271574..12273371-chr18:12275461..12278516,4	MCF-7	breast:
50	chr18:12273083..12277145-chr18:12307082..12311128,4	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIDEA-1	chr18:12288322-12288653	XLOC_012631
2	lnc-CIDEA-1	chr18:12291102-12291290	XLOC_012631
3	lnc-CIDEA-1	chr18:12291102-12291487	ENSG00000267069.1
4	lnc-CIDEA-4	chr18:12281102-12281507	l_1533_chr18:12278494-12281507_breast
5	lnc-CIDEA-4	chr18:12279426-12282738	NONHSAT058361
6	lnc-CIDEA-1	chr18:12288307-12288653	ENSG00000267069.1
7	lnc-CIDEA-4	chr18:12278495-12278653	l_1533_chr18:12278494-12281507_breast

No data

Variant related genes	Relation type
ENSG00000267069	TF binding region
ENSG00000267069	CpG island
ENSG00000199702	chromatin interactions
ENSG00000177150	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000176014	chromatin interactions
ENSG00000255112	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000267069	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000101654	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000176194	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000267165	chromatin interactions
ABCB7	miRNA target sites
ABCC1	miRNA target sites

Extended variants
information (count: 1113 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552435232	chr18:12270832-12270833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs371055075	chr18:12270866-12270867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375386640	chr18:12270871-12270872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367787260	chr18:12270876-12270877	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370279537	chr18:12270882-12270883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs386801347	chr18:12270887-12270888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374080255	chr18:12270888-12270889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs79565063	chr18:12270893-12270894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10673524	chr18:12270905-12270906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565619939	chr18:12270922-12270923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141114403	chr18:12270923-12270924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374042530	chr18:12270929-12270930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs8083762	chr18:12270934-12270935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs9966377	chr18:12270959-12270960	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538598516	chr18:12270966-12270967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138913360	chr18:12270971-12270972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575254498	chr18:12271006-12271007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34828179	chr18:12271016-12271017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377468543	chr18:12271021-12271022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186077404	chr18:12271031-12271032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561308020	chr18:12271057-12271058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531465865	chr18:12271107-12271108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543517868	chr18:12271126-12271127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs72870156	chr18:12271211-12271212	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs116096640	chr18:12271224-12271225	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547072156	chr18:12271266-12271267	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191745104	chr18:12271345-12271346	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529927608	chr18:12271403-12271404	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548393675	chr18:12271427-12271428	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561503055	chr18:12271444-12271445	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573061958	chr18:12271460-12271461	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184290761	chr18:12271471-12271472	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368134994	chr18:12271489-12271490	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372037226	chr18:12271503-12271504	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571313121	chr18:12271521-12271522	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs11080563	chr18:12271539-12271540	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189901456	chr18:12271542-12271543	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs530256480	chr18:12271559-12271560	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs572733365	chr18:12271611-12271612	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs542932869	chr18:12271623-12271624	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs149393481	chr18:12271700-12271701	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs576678133	chr18:12271701-12271702	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs543554143	chr18:12271725-12271726	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs35460481	chr18:12271732-12271733	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532234016	chr18:12271764-12271765	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs541053808	chr18:12271765-12271766	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs62097515	chr18:12271828-12271829	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530023630	chr18:12271865-12271866	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs548149906	chr18:12271887-12271888	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs569522925	chr18:12271891-12271892	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12254600-12271600	Weak transcription	Right Atrium	heart
2	chr18:12264400-12271400	Weak transcription	K562	blood
3	chr18:12266400-12271400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:12269400-12271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:12270000-12271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12270000-12271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:12270600-12271200	Weak transcription	Adipose Nuclei	Adipose
8	chr18:12271000-12271400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12271200-12271400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:12271200-12271400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:12271200-12271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:12271200-12271400	Active TSS	HepG2	liver
13	chr18:12271200-12271600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:12271200-12271600	Enhancers	Adipose Nuclei	Adipose
15	chr18:12271200-12271600	Enhancers	Fetal Muscle Leg	muscle
16	chr18:12271200-12272200	Active TSS	Hela-S3	cervix
17	chr18:12271400-12271600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr18:12271400-12271600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:12271400-12271600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:12271400-12271600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:12271400-12271600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:12271400-12271600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:12271400-12271600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr18:12271400-12271600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:12271400-12271600	Bivalent Enhancer	Esophagus	oesophagus
26	chr18:12271400-12271600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr18:12271400-12271600	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr18:12271400-12271600	Enhancers	Fetal Thymus	thymus
29	chr18:12271400-12271600	Enhancers	Pancreas	Pancrea
30	chr18:12271400-12271600	Enhancers	Rectal Smooth Muscle	rectum
31	chr18:12271400-12271600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr18:12271400-12271600	Flanking Active TSS	A549	lung
33	chr18:12271400-12271600	Enhancers	Dnd41	blood
34	chr18:12271400-12271600	Enhancers	HMEC	breast
35	chr18:12271400-12271600	Enhancers	HUVEC	blood vessel
36	chr18:12271400-12271600	Flanking Active TSS	K562	blood
37	chr18:12271400-12271600	Enhancers	NHEK	skin
38	chr18:12271400-12271600	Enhancers	Osteobl	bone
39	chr18:12271400-12271800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr18:12271400-12271800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:12271400-12271800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:12271400-12271800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:12271400-12271800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:12271400-12271800	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr18:12271400-12271800	Flanking Active TSS	HepG2	liver
46	chr18:12271400-12272000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:12271400-12272000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:12271400-12272200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr18:12271400-12272200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr18:12271400-12272200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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