Variant report

Variant	esv2761937
Chromosome Location	chr1:152811183-152853760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:152826352-152826584	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:152839054-152839258	K562	blood:	n/a	n/a
3	BHLHE40	chr1:152853385-152853393	GM12878	blood:	n/a	n/a
4	BHLHE40	chr1:152842484-152842545	K562	blood:	n/a	n/a
5	BRCA1	chr1:152821089-152821150	GM12878	blood:	n/a	n/a
6	BRCA1	chr1:152842345-152842530	GM12878	blood:	n/a	n/a
7	CEBPB	chr1:152832720-152832935	HepG2	liver:	n/a	chr1:152832763-152832774
8	CEBPB	chr1:152811752-152811905	A549	lung:	n/a	n/a
9	CEBPB	chr1:152832665-152832924	A549	lung:	n/a	chr1:152832763-152832774
10	CEBPB	chr1:152852083-152852382	K562	blood:	n/a	chr1:152852251-152852262 chr1:152852253-152852264 chr1:152852251-152852264 chr1:152852253-152852262 chr1:152852251-152852264
11	CEBPB	chr1:152852095-152852436	A549	lung:	n/a	chr1:152852251-152852262 chr1:152852253-152852264 chr1:152852251-152852264 chr1:152852253-152852262 chr1:152852251-152852264
12	CEBPB	chr1:152837987-152838162	K562	blood:	n/a	chr1:152838061-152838072
13	CEBPB	chr1:152852079-152852419	IMR90	lung:	n/a	chr1:152852251-152852262 chr1:152852253-152852264 chr1:152852251-152852264 chr1:152852253-152852262 chr1:152852251-152852264
14	CEBPB	chr1:152852078-152852483	MCF-7	breast:	n/a	chr1:152852251-152852262 chr1:152852253-152852264 chr1:152852251-152852264 chr1:152852253-152852262 chr1:152852251-152852264
15	CEBPB	chr1:152838026-152838172	Hela-S3	cervix:	n/a	chr1:152838061-152838072
16	CEBPB	chr1:152840153-152840353	HepG2	liver:	n/a	chr1:152840250-152840261
17	CEBPB	chr1:152815166-152815348	K562	blood:	n/a	chr1:152815219-152815236 chr1:152815220-152815231 chr1:152815221-152815232
18	CEBPB	chr1:152837901-152838102	HepG2	liver:	n/a	chr1:152838061-152838072
19	CEBPB	chr1:152852073-152852435	HepG2	liver:	n/a	chr1:152852251-152852262 chr1:152852253-152852264 chr1:152852251-152852264 chr1:152852253-152852262 chr1:152852251-152852264
20	CEBPB	chr1:152815048-152815364	HepG2	liver:	n/a	chr1:152815219-152815236 chr1:152815220-152815231 chr1:152815221-152815232
21	CEBPB	chr1:152850514-152850761	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:152842416-152842634	GM12878	blood:	n/a	n/a
23	CHD2	chr1:152843573-152843703	K562	blood:	n/a	n/a
24	CREB1	chr1:152842390-152842575	A549	lung:	n/a	n/a
25	CTCF	chr1:152843628-152843823	A549	lung:	n/a	n/a
26	CTCF	chr1:152843861-152844174	ECC-1	luminal epithelium:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
27	CTCF	chr1:152843561-152844205	IMR90	lung:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
28	CTCF	chr1:152850634-152850758	LNCaP	prostate:	n/a	chr1:152850684-152850702
29	CTCF	chr1:152843680-152843830	GM12864	blood:	n/a	n/a
30	CTCF	chr1:152842360-152842607	Pancreas_OC	pancreas:	n/a	chr1:152842479-152842500 chr1:152842477-152842495 chr1:152842478-152842494
31	CTCF	chr1:152850560-152850710	GM12875	blood:	n/a	chr1:152850684-152850702
32	CTCF	chr1:152850660-152850810	GM12865	blood:	n/a	chr1:152850684-152850702
33	CTCF	chr1:152843891-152844132	Hela-S3	cervix:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
34	CTCF	chr1:152842362-152842579	HepG2	liver:	n/a	chr1:152842479-152842500 chr1:152842477-152842495 chr1:152842478-152842494
35	CTCF	chr1:152843940-152844090	HPAF	blood vessel:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
36	CTCF	chr1:152843930-152844111	HepG2	liver:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
37	CTCF	chr1:152850640-152850790	NB4	blood:	n/a	chr1:152850684-152850702
38	CTCF	chr1:152842301-152842599	SK-N-SH_RA	brain:	n/a	chr1:152842479-152842500 chr1:152842477-152842495 chr1:152842478-152842494
39	CTCF	chr1:152843924-152844143	GM19240	blood:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
40	CTCF	chr1:152852680-152852830	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr1:152843900-152844143	GM12892	blood:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
42	CTCF	chr1:152850640-152850790	NHEK	skin:	n/a	chr1:152850684-152850702
43	CTCF	chr1:152843920-152844070	MCF-7	breast:	n/a	chr1:152844020-152844038 chr1:152844025-152844035 chr1:152844022-152844043 chr1:152844023-152844032 chr1:152844023-152844036
44	CTCF	chr1:152843374-152843856	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:152842400-152842550	HPAF	blood vessel:	n/a	chr1:152842479-152842500 chr1:152842477-152842495 chr1:152842478-152842494
46	CTCF	chr1:152843600-152843750	HepG2	liver:	n/a	n/a
47	CTCF	chr1:152843700-152843850	HCT-116	colon:	n/a	n/a
48	CTCF	chr1:152842380-152842530	NB4	blood:	n/a	chr1:152842479-152842500 chr1:152842477-152842495 chr1:152842478-152842494
49	CTCF	chr1:152843660-152843810	GM12873	blood:	n/a	n/a
50	CTCF	chr1:152842400-152842550	HCPEpiC	choroid plexus:	n/a	chr1:152842479-152842500 chr1:152842477-152842495 chr1:152842478-152842494

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152813850-152813900	AG09309	skin:	n/a
2	chr1:152814831-152814881	HUVEC	blood vessel:	n/a
3	chr1:152815459-152815509	NB4	blood:	n/a
4	chr1:152816168-152816218	HUVEC	blood vessel:	n/a
5	chr1:152849783-152849833	Hepatocyte	liver:	n/a
6	chr1:152849738-152849788	HUVEC	blood vessel:	n/a
7	chr1:152814831-152814881	AG04449	skin:	fetal
8	chr1:152814273-152814323	SK-N-MC	brain:	n/a
9	chr1:152813850-152813900	AG09319	gingival:	n/a
10	chr1:152814831-152814881	GM06990	blood:	n/a
11	chr1:152850698-152850748	AG09319	gingival:	n/a
12	chr1:152815068-152815118	SKMC	muscle:	n/a
13	chr1:152849738-152849788	IMR90	lung:	fetal
14	chr1:152815459-152815509	PrEC	prostate:	n/a
15	chr1:152815843-152815893	Hepatocyte	liver:	n/a
16	chr1:152815459-152815509	HEK293	kidney:	embryo
17	chr1:152816168-152816218	GM12891	blood:	n/a
18	chr1:152850698-152850748	NHDF-neo	bronchial:	n/a
19	chr1:152815459-152815509	BE2_C	brain:	n/a
20	chr1:152850992-152851042	SK-N-SH_RA	brain:	n/a
21	chr1:152849738-152849788	NB4	blood:	n/a
22	chr1:152849738-152849788	NHDF-neo	bronchial:	n/a
23	chr1:152815459-152815509	GM06990	blood:	n/a
24	chr1:152849738-152849788	HNPCEpiC	eye:	n/a
25	chr1:152849738-152849788	Caco-2	colon:	n/a
26	chr1:152850992-152851042	BJ	skin:	n/a
27	chr1:152849783-152849833	LNCaP	prostate:	n/a
28	chr1:152813850-152813900	HL-60	blood:	n/a
29	chr1:152814273-152814323	MCF-7	breast:	n/a
30	chr1:152815158-152815208	U87	brain:	n/a
31	chr1:152814273-152814323	Hepatocyte	liver:	n/a
32	chr1:152813850-152813900	GM12892	blood:	n/a
33	chr1:152814273-152814323	BJ	skin:	n/a
34	chr1:152814831-152814881	GM12891	blood:	n/a
35	chr1:152814831-152814881	HL-60	blood:	n/a
36	chr1:152814273-152814323	ProgFib	skin:	n/a
37	chr1:152849738-152849788	K562	blood:	n/a
38	chr1:152853543-152853593	ovcar-3	ovarian:	n/a
39	chr1:152813850-152813900	NH-A	brain:	n/a
40	chr1:152815459-152815509	MCF-7	breast:	n/a
41	chr1:152813850-152813900	RPTEC	kidney:	n/a
42	chr1:152849738-152849788	GM19239	blood:	n/a
43	chr1:152849783-152849833	GM12892	blood:	n/a
44	chr1:152814831-152814881	HNPCEpiC	eye:	n/a
45	chr1:152853543-152853593	BJ	skin:	n/a
46	chr1:152816168-152816218	ProgFib	skin:	n/a
47	chr1:152850698-152850748	BE2_C	brain:	n/a
48	chr1:152813850-152813900	H1-hESC	embryonic stem cell:	embryo
49	chr1:152814273-152814323	T-47D	breast:	n/a
50	chr1:152849738-152849788	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152843390..152844417-chr1:152898307..152899295,4	MCF-7	breast:
2	chr1:152843465..152843985-chr20:45925441..45926105,2	MCF-7	breast:
3	chr1:152842063..152844434-chr1:153164775..153166274,11	MCF-7	breast:
4	chr1:152826667..152828678-chr1:152831968..152833911,2	K562	blood:
5	chr1:152841834..152842463-chr1:153161973..153162679,2	K562	blood:
6	chr1:152843310..152844245-chr1:152890638..152891212,2	MCF-7	breast:
7	chr1:152830924..152833147-chr1:152833603..152835358,2	K562	blood:
8	chr1:152815759..152818741-chr1:152820078..152821865,2	K562	blood:
9	chr1:152841990..152842524-chr1:153163014..153163523,2	K562	blood:
10	chr1:152841334..152844015-chr1:152851385..152853978,2	K562	blood:
11	chr1:152717789..152718414-chr1:152843679..152844506,2	MCF-7	breast:
12	chr1:152843546..152844095-chr1:153194993..153195802,3	MCF-7	breast:
13	chr1:152842250..152842817-chr1:152850235..152850984,2	K562	blood:
14	chr1:152841405..152843459-chr1:152858865..152861299,2	K562	blood:
15	chr1:152843289..152844260-chr1:153005064..153006050,2	MCF-7	breast:
16	chr1:152841998..152842773-chr1:152898298..152899254,2	K562	blood:
17	chr1:152715224..152717554-chr1:152841619..152843723,2	MCF-7	breast:
18	chr1:152845013..152846000-chr1:153162597..153163472,3	MCF-7	breast:
19	chr1:152626130..152627645-chr1:152842015..152844012,15	MCF-7	breast:
20	chr1:152815759..152818741-chr1:152820078..152821865,2	K562	blood:
21	chr1:152843532..152844154-chr1:152896678..152897196,2	MCF-7	breast:
22	chr1:152843263..152844168-chr1:153005237..153006058,6	MCF-7	breast:
23	chr1:152842013..152842592-chr1:152898314..152898993,2	MCF-7	breast:
24	chr1:152843341..152844548-chr1:152897786..152899223,16	MCF-7	breast:
25	chr1:152830924..152833147-chr1:152833603..152835358,2	K562	blood:
26	chr1:152842274..152842902-chr1:153195531..153196166,2	K562	blood:
27	chr1:152841334..152844015-chr1:152851385..152853978,2	K562	blood:
28	chr1:152843630..152844136-chr8:84575861..84576417,2	MCF-7	breast:
29	chr1:152842126..152842930-chr1:153201547..153202193,2	K562	blood:
30	chr1:152841961..152842705-chr1:153201839..153202398,2	MCF-7	breast:
31	chr1:152843206..152844266-chr1:152889921..152890796,3	MCF-7	breast:
32	chr1:152717585..152718578-chr1:152842088..152843110,3	MCF-7	breast:
33	chr1:152843652..152844300-chr1:153003266..153003806,2	MCF-7	breast:
34	chr1:152826667..152828678-chr1:152831968..152833911,2	K562	blood:
35	chr1:152831904..152834777-chr1:152837902..152840166,2	K562	blood:
36	chr1:152831904..152834777-chr1:152837902..152840166,2	K562	blood:
37	chr1:152843080..152844798-chr1:153164828..153166213,18	MCF-7	breast:
38	chr1:152842102..152843011-chr1:153260862..153261761,2	K562	blood:
39	chr1:152842048..152842836-chr1:153162617..153163117,2	MCF-7	breast:
40	chr1:152843518..152844203-chr8:96897506..96898026,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE1C-2	chr1:152839767-152840039	expReg_chr1_15341_-
2	lnc-LCE1C-1	chr1:152838165-152838510	expReg_chr1_15338_-

Variant related genes	Relation type
LCE6A	TF binding region
SMCP	TF binding region
LCE6A	CpG island
SMCP	CpG island
ENSG00000233819	chromatin interactions
ENSG00000169469	chromatin interactions
ENSG00000163206	chromatin interactions

Extended variants
information (count: 1340 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543425136	chr1:152811778-152811779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192004878	chr1:152811783-152811784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57942491	chr1:152811796-152811797	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58862899	chr1:152811826-152811827	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377019831	chr1:152811842-152811843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs116337468	chr1:152811857-152811858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs116587287	chr1:152811877-152811878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs16834596	chr1:152813011-152813012	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116283736	chr1:152813015-152813016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541399434	chr1:152813018-152813019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111246963	chr1:152813026-152813027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566576011	chr1:152813042-152813043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533787551	chr1:152813068-152813069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34215792	chr1:152813077-152813078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187547738	chr1:152813099-152813100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111683955	chr1:152813116-152813117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375958300	chr1:152813121-152813122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73021184	chr1:152813195-152813196	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73021185	chr1:152813205-152813206	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs16834601	chr1:152813853-152813854	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544052234	chr1:152813859-152813860	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs566420385	chr1:152814274-152814275	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs184361613	chr1:152814298-152814299	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs16834602	chr1:152814309-152814310	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112527638	chr1:152814776-152814777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113239964	chr1:152814777-152814778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546637204	chr1:152814831-152814832	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs6673420	chr1:152814859-152814860	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138430037	chr1:152814939-152814940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115295202	chr1:152814960-152814961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548178337	chr1:152814969-152814970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116034807	chr1:152814983-152814984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577479187	chr1:152815067-152815068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147264828	chr1:152815068-152815069	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs12073746	chr1:152815081-152815082	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs566491824	chr1:152815085-152815086	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs573243780	chr1:152815092-152815093	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs542351576	chr1:152815119-152815120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs80140568	chr1:152815159-152815160	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs113788860	chr1:152815187-152815188	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs527624077	chr1:152815191-152815192	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs180726560	chr1:152815233-152815234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7416967	chr1:152815269-152815270	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1411618	chr1:152815273-152815274	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149346453	chr1:152815294-152815295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs57935802	chr1:152815344-152815345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs73023030	chr1:152819606-152819607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189330261	chr1:152819621-152819622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181828516	chr1:152819710-152819711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533573800	chr1:152819735-152819736	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152819600-152820000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:152819600-152820000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152819600-152820000	Enhancers	NHEK	skin
4	chr1:152820000-152828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:152825200-152825400	Weak transcription	HSMMtube	muscle
6	chr1:152825400-152825600	Enhancers	HSMMtube	muscle
7	chr1:152825600-152826600	Weak transcription	HSMMtube	muscle
8	chr1:152826600-152829000	Enhancers	HSMMtube	muscle
9	chr1:152827400-152831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:152827600-152831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:152827800-152828800	Enhancers	HMEC	breast
12	chr1:152828000-152828400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:152828000-152828800	Enhancers	NHDF-Ad	bronchial
14	chr1:152828000-152828800	Enhancers	NHEK	skin
15	chr1:152828000-152829800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:152828800-152830200	Weak transcription	HMEC	breast
17	chr1:152828800-152830200	Weak transcription	NHDF-Ad	bronchial
18	chr1:152828800-152830200	Weak transcription	NHEK	skin
19	chr1:152829000-152830400	Weak transcription	HSMMtube	muscle
20	chr1:152829800-152830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:152830200-152831400	Enhancers	NHEK	skin
22	chr1:152830200-152831600	Enhancers	HMEC	breast
23	chr1:152830200-152831800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:152830400-152830600	Enhancers	NHDF-Ad	bronchial
25	chr1:152830400-152831000	Enhancers	HSMMtube	muscle
26	chr1:152832600-152835200	Enhancers	Fetal Stomach	stomach
27	chr1:152833000-152835400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:152833400-152833600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:152833600-152834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:152834000-152834400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:152834000-152835600	Enhancers	Colon Smooth Muscle	Colon
32	chr1:152834200-152835200	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:152834400-152834600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:152834400-152836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:152834600-152835400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:152835200-152835800	Weak transcription	Fetal Stomach	stomach
37	chr1:152835200-152836000	Enhancers	Fetal Lung	lung
38	chr1:152835800-152836400	Enhancers	Fetal Stomach	stomach
39	chr1:152836000-152836800	Weak transcription	Fetal Lung	lung
40	chr1:152836400-152838000	Weak transcription	Fetal Stomach	stomach
41	chr1:152836800-152837000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:152836800-152838200	Enhancers	Fetal Lung	lung
43	chr1:152837000-152837400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:152837000-152838000	Weak transcription	HMEC	breast
45	chr1:152837400-152838000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:152838000-152838800	Enhancers	Fetal Stomach	stomach
47	chr1:152838000-152838800	Enhancers	HMEC	breast
48	chr1:152838600-152839200	Enhancers	NHEK	skin
49	chr1:152838800-152840400	Weak transcription	Fetal Stomach	stomach
50	chr1:152838800-152846000	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links