Variant report

Variant	esv3525916
Chromosome Location	chr12:120345352-120665045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8270)
CpG islands
(count:5802)
Chromatin interactive
region (count:550)
LncRNA
region (count:9)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:8270 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120493209-120493847	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:120517219-120517567	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:120378632-120379155	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:120524706-120525170	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:120375926-120376099	K562	blood:	n/a	n/a
6	ARID3A	chr12:120619852-120620358	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:120451657-120451980	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:120656549-120656953	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:120479136-120479526	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:120632573-120632922	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:120637616-120637919	K562	blood:	n/a	n/a
12	ARID3A	chr12:120438265-120438607	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:120632422-120632557	K562	blood:	n/a	n/a
14	ARID3A	chr12:120633121-120633895	K562	blood:	n/a	n/a
15	ARID3A	chr12:120557461-120557743	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:120426272-120426439	K562	blood:	n/a	n/a
17	ARID3A	chr12:120436842-120437081	HepG2	liver:	n/a	n/a
18	ARID3A	chr12:120500834-120501227	HepG2	liver:	n/a	n/a
19	ARID3A	chr12:120426946-120426970	K562	blood:	n/a	n/a
20	ARID3A	chr12:120524773-120524947	K562	blood:	n/a	n/a
21	ARID3A	chr12:120638855-120639272	HepG2	liver:	n/a	n/a
22	ARID3A	chr12:120559605-120559943	HepG2	liver:	n/a	n/a
23	ARID3A	chr12:120598179-120598320	K562	blood:	n/a	n/a
24	ARID3A	chr12:120638369-120639164	K562	blood:	n/a	n/a
25	ATF1	chr12:120372736-120372814	K562	blood:	n/a	n/a
26	ATF1	chr12:120451681-120451957	K562	blood:	n/a	n/a
27	ATF1	chr12:120524684-120525325	K562	blood:	n/a	n/a
28	ATF1	chr12:120638745-120639265	K562	blood:	n/a	n/a
29	ATF1	chr12:120345952-120346114	K562	blood:	n/a	n/a
30	ATF2	chr12:120561390-120562171	GM12878	blood:	n/a	n/a
31	ATF2	chr12:120637564-120637992	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr12:120633777-120634339	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr12:120634692-120635137	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr12:120548165-120548824	GM12878	blood:	n/a	n/a
35	ATF2	chr12:120449882-120450611	GM12878	blood:	n/a	n/a
36	ATF2	chr12:120555196-120555664	GM12878	blood:	n/a	n/a
37	ATF2	chr12:120635149-120635617	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr12:120524609-120525108	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr12:120632285-120634454	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr12:120594673-120595164	GM12878	blood:	n/a	n/a
41	ATF2	chr12:120638325-120639471	GM12878	blood:	n/a	n/a
42	ATF2	chr12:120638658-120639432	GM12878	blood:	n/a	n/a
43	ATF2	chr12:120524615-120525469	GM12878	blood:	n/a	n/a
44	ATF2	chr12:120632270-120633382	GM12878	blood:	n/a	n/a
45	ATF2	chr12:120557029-120557951	GM12878	blood:	n/a	n/a
46	ATF2	chr12:120633541-120634103	GM12878	blood:	n/a	n/a
47	ATF2	chr12:120634618-120635012	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr12:120531727-120532201	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr12:120637385-120638018	GM12878	blood:	n/a	n/a
50	ATF2	chr12:120449794-120450531	GM12878	blood:	n/a	n/a

(count:5802 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120651942-120651992	HCM	heart:	n/a
2	chr12:120426618-120426668	MCF10A-Er-Src	breast:	n/a
3	chr12:120633054-120633104	HEK293	kidney:	embryo
4	chr12:120426618-120426668	HepG2	liver:	n/a
5	chr12:120638762-120638812	HAEpiC	amniotic membrane:	n/a
6	chr12:120426550-120426600	AoSMC	blood vessel:	n/a
7	chr12:120428313-120428363	NT2-D1	testis:	n/a
8	chr12:120651942-120651992	HCM	heart:	n/a
9	chr12:120426618-120426668	MCF10A-Er-Src	breast:	n/a
10	chr12:120633054-120633104	HEK293	kidney:	embryo
11	chr12:120426618-120426668	HepG2	liver:	n/a
12	chr12:120638762-120638812	HAEpiC	amniotic membrane:	n/a
13	chr12:120426550-120426600	AoSMC	blood vessel:	n/a
14	chr12:120428313-120428363	NT2-D1	testis:	n/a
15	chr12:120541737-120541787	MCF-7	breast:	n/a
16	chr12:120524786-120524836	ovcar-3	ovarian:	n/a
17	chr12:120639236-120639286	U87	brain:	n/a
18	chr12:120632649-120632699	H1-hESC	embryonic stem cell:	embryo
19	chr12:120651746-120651796	LNCaP	prostate:	n/a
20	chr12:120428313-120428363	MCF10A-Er-Src	breast:	n/a
21	chr12:120663824-120663874	HCPEpiC	choroid plexus:	n/a
22	chr12:120475264-120475314	HRPEpiC	eye:	n/a
23	chr12:120638927-120638977	T-47D	breast:	n/a
24	chr12:120651746-120651796	BJ	skin:	n/a
25	chr12:120538792-120538842	BJ	skin:	n/a
26	chr12:120541399-120541449	HAEpiC	amniotic membrane:	n/a
27	chr12:120637158-120637208	MCF10A-Er-Src	breast:	n/a
28	chr12:120639115-120639165	HL-60	blood:	n/a
29	chr12:120621244-120621294	AG04449	skin:	fetal
30	chr12:120426618-120426668	CMK	blood:	n/a
31	chr12:120663812-120663862	HCT-116	colon:	n/a
32	chr12:120638514-120638564	SK-N-SH_RA	brain:	n/a
33	chr12:120554537-120554587	PFSK-1	brain:	n/a
34	chr12:120639210-120639260	RPTEC	kidney:	n/a
35	chr12:120650299-120650349	HRPEpiC	eye:	n/a
36	chr12:120631901-120631951	HCT-116	colon:	n/a
37	chr12:120639051-120639101	GM12892	blood:	n/a
38	chr12:120653430-120653480	ProgFib	skin:	n/a
39	chr12:120428313-120428363	AG10803	skin:	n/a
40	chr12:120639069-120639119	SKMC	muscle:	n/a
41	chr12:120525172-120525222	AG09319	gingival:	n/a
42	chr12:120652604-120652654	NT2-D1	testis:	n/a
43	chr12:120651829-120651879	LNCaP	prostate:	n/a
44	chr12:120535099-120535149	HMEC	breast:	n/a
45	chr12:120649661-120649711	NH-A	brain:	n/a
46	chr12:120652778-120652828	PFSK-1	brain:	n/a
47	chr12:120638789-120638839	Hela-S3	cervix:	n/a
48	chr12:120535099-120535149	HAEpiC	amniotic membrane:	n/a
49	chr12:120428313-120428363	HAEpiC	amniotic membrane:	n/a
50	chr12:120532852-120532902	ovcar-3	ovarian:	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr12:120589085..120591419-chr12:120620211..120622247,2	K562	blood:
2	chr12:120638843..120641556-chr17:57912792..57915356,2	MCF-7	breast:
3	chr12:120637393..120639950-chr3:39193278..39195443,2	K562	blood:
4	chr12:120581778..120584149-chr12:120629758..120631422,2	K562	blood:
5	chr12:120565499..120568763-chr12:120630568..120633356,3	MCF-7	breast:
6	chr12:120529758..120533741-chr12:120726351..120730111,5	MCF-7	breast:
7	chr12:120500334..120503561-chr12:120515815..120519326,4	MCF-7	breast:
8	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
9	chr12:120574047..120576744-chr12:120631730..120634976,3	MCF-7	breast:
10	chr12:120574047..120576744-chr12:120631730..120634976,3	MCF-7	breast:
11	chr12:120632974..120634618-chr17:46971835..46974020,2	K562	blood:
12	chr12:120604267..120605924-chr12:120728512..120730416,2	MCF-7	breast:
13	chr12:120632627..120633205-chr6:27114567..27115227,2	Hela-S3	cervix:
14	chr12:120543648..120545256-chr12:120631107..120633184,2	MCF-7	breast:
15	chr12:120638385..120638887-chr3:101568323..101568988,2	Hela-S3	cervix:
16	chr12:120560915..120562885-chr12:120637207..120639199,3	K562	blood:
17	chr12:120567517..120569604-chr12:120728003..120731600,3	MCF-7	breast:
18	chr12:120612951..120614667-chr12:120724932..120726972,2	MCF-7	breast:
19	chr12:120581778..120584149-chr12:120629758..120631422,2	K562	blood:
20	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
21	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:
22	chr12:120375794..120377491-chr12:120554770..120557327,2	MCF-7	breast:
23	chr12:120513658..120516518-chr12:120532561..120535483,2	MCF-7	breast:
24	chr12:120520820..120522899-chr12:120549617..120551295,2	K562	blood:
25	chr12:120554030..120557390-chr12:120602676..120607116,4	MCF-7	breast:
26	chr12:120587276..120588807-chr12:120602039..120603973,2	K562	blood:
27	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
28	chr12:120479228..120480776-chr12:120492305..120495211,2	MCF-7	breast:
29	chr12:120632252..120633121-chr19:39897386..39898105,2	Hela-S3	cervix:
30	chr1:161039605..161040134-chr12:120554428..120555097,2	NB4	blood:
31	chr12:120554667..120555327-chr7:32930978..32931953,2	Hela-S3	cervix:
32	chr12:120087186..120087732-chr12:120375949..120376907,2	K562	blood:
33	chr12:120375923..120377476-chr12:120425555..120428485,2	MCF-7	breast:
34	chr12:120472729..120475362-chr12:120515779..120517962,2	MCF-7	breast:
35	chr12:120569171..120570951-chr12:120586181..120588091,2	MCF-7	breast:
36	chr12:120600039..120601830-chr12:120632774..120634294,2	MCF-7	breast:
37	chr12:120587776..120590251-chr12:120726393..120729476,3	MCF-7	breast:
38	chr12:120414941..120417051-chr12:120419035..120420939,2	MCF-7	breast:
39	chr12:120577301..120580617-chr12:120600923..120603365,3	K562	blood:
40	chr12:120609425..120611927-chr12:120614187..120616646,3	K562	blood:
41	chr12:120638441..120639054-chr12:120728978..120729878,2	Hela-S3	cervix:
42	chr12:120638623..120639619-chr19:14628896..14629643,2	Hela-S3	cervix:
43	chr12:120593461..120596062-chr12:120615949..120618513,2	MCF-7	breast:
44	chr12:120410929..120415600-chr12:120416913..120420697,4	MCF-7	breast:
45	chr12:120556435..120559071-chr12:120718655..120721387,2	MCF-7	breast:
46	chr12:120632678..120633360-chrX:133930768..133931430,2	HCT-116	colon:
47	chr12:120636494..120638550-chr12:120756430..120759190,2	MCF-7	breast:
48	chr12:120414941..120417051-chr12:120419035..120420939,2	MCF-7	breast:
49	chr12:120425138..120431100-chr12:120522252..120526480,6	MCF-7	breast:
50	chr12:120534696..120538363-chr12:120637562..120641387,4	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPLP0-4	chr12:120664458-120664920	NONHSAT031127
2	lnc-CCDC64-2	chr12:120377270-120377404	NONHSAT031098
3	lnc-RP1-127H14.3.1-4	chr12:120437657-120437716	NONHSAT031101
4	lnc-CCDC64-3	chr12:120351754-120351991	expRegAs_chr12_11307_+
5	lnc-GCN1L1-3	chr12:120532903-120534645	NONHSAT031105
6	lnc-CCDC64-2	chr12:120412822-120412950	NONHSAT031098
7	lnc-CCDC64-1	chr12:120554711-120556800	NONHSAT031106
8	lnc-RP1-127H14.3.1-4	chr12:120438074-120438358	NONHSAT031101
9	lnc-RPLP0-4	chr12:120664409-120664920	NONHSAT031126

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4498	chr12:120593277-120593298	MIMAT0019033

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RPLP0	hsa-miR-149-5p	chr12:120634548-120634570

Variant related genes	Relation type
ENSG00000263913	TF binding region
ENSG00000255575	TF binding region
GCN1L1	TF binding region
RPLP0	TF binding region
RAB35	TF binding region
PXN-AS1	TF binding region
MIR4498	TF binding region
ENSG00000272464	TF binding region
PXN	TF binding region
RPL35AP30	TF binding region
CCDC64	TF binding region
ENSG00000263913	CpG island
ENSG00000255575	CpG island
GCN1L1	CpG island
RPLP0	CpG island
RAB35	CpG island
PXN-AS1	CpG island
MIR4498	CpG island
ENSG00000272464	CpG island
PXN	CpG island
RPL35AP30	CpG island
CCDC64	CpG island
ENSG00000164754	chromatin interactions
ENSG00000272464	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000105011	chromatin interactions
ENSG00000100714	chromatin interactions
ENSG00000263913	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000144655	chromatin interactions
ENSG00000117614	chromatin interactions
ENSG00000034677	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000064961	chromatin interactions
ENSG00000002834	chromatin interactions
ENSG00000085491	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000196449	chromatin interactions
ENSG00000172466	chromatin interactions
ENSG00000156500	chromatin interactions
ENSG00000141447	chromatin interactions
ENSG00000100162	chromatin interactions
ENSG00000140157	chromatin interactions
ENSG00000248636	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000173137	chromatin interactions
ENSG00000143479	chromatin interactions
ENSG00000170890	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000146247	chromatin interactions
ENSG00000122966	chromatin interactions
ENSG00000264875	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000255575	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000028310	chromatin interactions
ENSG00000264364	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000071539	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000131725	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000111725	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000186517	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000266704	chromatin interactions
ENSG00000120705	chromatin interactions
ENSG00000197982	chromatin interactions
ENSG00000196366	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000226729	chromatin interactions
ENSG00000237489	chromatin interactions
ENSG00000188672	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000123009	chromatin interactions
ENSG00000132481	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000266290	chromatin interactions
ENSG00000118961	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000075461	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000260879	chromatin interactions
ENSG00000237605	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000156504	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000181904	chromatin interactions
ENSG00000049130	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000159199	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000176915	chromatin interactions

Extended variants
information (count: 10919 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:10919 , 50 per page) page: 1 2 3 4 5 6 7 ... 219

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530686563	chr12:120347400-120347401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs16949789	chr12:120347563-120347564	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564006419	chr12:120347564-120347565	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145202443	chr12:120347596-120347597	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147169405	chr12:120347626-120347627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186723076	chr12:120347628-120347629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528016133	chr12:120347636-120347637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372439550	chr12:120347638-120347639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140354769	chr12:120347658-120347659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549022224	chr12:120347672-120347673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4767858	chr12:120347677-120347678	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
12	rs142113388	chr12:120347702-120347703	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151153983	chr12:120347782-120347783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370461903	chr12:120347785-120347786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571193775	chr12:120347808-120347809	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77964347	chr12:120347825-120347826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10849709	chr12:120347838-120347839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573154197	chr12:120347842-120347843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4767859	chr12:120347850-120347851	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140078039	chr12:120347873-120347874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371070442	chr12:120347896-120347897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs149857526	chr12:120347937-120347938	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371370166	chr12:120347987-120347988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs146867978	chr12:120348009-120348010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189886750	chr12:120348026-120348027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543020796	chr12:120348059-120348060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140668452	chr12:120348068-120348069	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540125599	chr12:120348086-120348087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181102844	chr12:120348143-120348144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186174107	chr12:120348145-120348146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548824796	chr12:120348211-120348212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562566238	chr12:120348236-120348237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531288980	chr12:120348251-120348252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551222074	chr12:120348259-120348260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189849040	chr12:120348261-120348262	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540148510	chr12:120348286-120348287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182125849	chr12:120348287-120348288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186442398	chr12:120348288-120348289	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560828725	chr12:120348300-120348301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367733841	chr12:120348324-120348325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190849999	chr12:120348335-120348336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532105857	chr12:120348340-120348341	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575721687	chr12:120348348-120348349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371940565	chr12:120348349-120348350	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537947012	chr12:120348368-120348369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557571469	chr12:120348426-120348427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577376473	chr12:120348448-120348449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34086971	chr12:120348469-120348470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs398021327	chr12:120348480-120348481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540137841	chr12:120348503-120348504	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20841430	CNVD

Chromatin state (count:7973 , 50 per page) page: 1 2 3 4 5 6 7 ... 160

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120347400-120347600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:120347600-120352200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:120348600-120350600	Enhancers	Osteobl	bone
4	chr12:120349000-120350800	Enhancers	HSMM	muscle
5	chr12:120349200-120349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:120349200-120349600	Enhancers	Hela-S3	cervix
7	chr12:120349400-120349600	Enhancers	NHDF-Ad	bronchial
8	chr12:120349400-120349800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:120349600-120350400	Weak transcription	NHDF-Ad	bronchial
10	chr12:120349600-120351200	Weak transcription	Hela-S3	cervix
11	chr12:120349600-120353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:120349800-120351000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:120350400-120352800	Enhancers	NHDF-Ad	bronchial
14	chr12:120351000-120353000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:120351200-120351400	Enhancers	Hela-S3	cervix
16	chr12:120351200-120351600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:120351200-120352000	Enhancers	HepG2	liver
18	chr12:120351200-120352600	Enhancers	Placenta	Placenta
19	chr12:120351600-120356600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:120352000-120355000	Weak transcription	HepG2	liver
21	chr12:120352200-120352400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:120352400-120352600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:120353800-120354400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:120355000-120355200	Enhancers	HepG2	liver
25	chr12:120355200-120355400	Bivalent Enhancer	HepG2	liver
26	chr12:120355400-120355600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:120355600-120356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:120356400-120356600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:120358400-120359800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:120362800-120363000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:120365200-120365400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:120365600-120365800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:120365600-120365800	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr12:120369000-120369600	Enhancers	Hela-S3	cervix
35	chr12:120369600-120378200	Weak transcription	Hela-S3	cervix
36	chr12:120372200-120372600	Enhancers	K562	blood
37	chr12:120374000-120374600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:120374000-120375200	Enhancers	NHDF-Ad	bronchial
39	chr12:120374600-120375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:120374800-120375600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:120375200-120375400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:120375400-120375800	Enhancers	Lung	lung
43	chr12:120378200-120378400	Enhancers	A549	lung
44	chr12:120378200-120378800	Enhancers	HMEC	breast
45	chr12:120378200-120379000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:120378200-120379000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:120378200-120379000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:120378200-120379000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:120378200-120379200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:120378200-120379200	Enhancers	Hela-S3	cervix

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