Variant report

Variant	nsv519657
Chromosome Location	chr12:120533696-120676090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7361)
CpG islands
(count:4581)
Chromatin interactive
region (count:399)
LncRNA
region (count:4)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:7361 , 50 per page) page: 1 2 3 4 5 6 7 ... 148

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120665634-120665890	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:120637616-120637919	K562	blood:	n/a	n/a
3	ARID3A	chr12:120669142-120669343	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:120632573-120632922	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:120666756-120667299	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:120633121-120633895	K562	blood:	n/a	n/a
7	ARID3A	chr12:120638855-120639272	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:120619852-120620358	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:120668429-120668758	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:120557461-120557743	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:120668153-120669417	K562	blood:	n/a	n/a
12	ARID3A	chr12:120559605-120559943	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:120598179-120598320	K562	blood:	n/a	n/a
14	ARID3A	chr12:120666854-120667539	K562	blood:	n/a	n/a
15	ARID3A	chr12:120672528-120672813	K562	blood:	n/a	n/a
16	ARID3A	chr12:120666297-120666367	K562	blood:	n/a	n/a
17	ARID3A	chr12:120638369-120639164	K562	blood:	n/a	n/a
18	ARID3A	chr12:120672453-120672821	HepG2	liver:	n/a	n/a
19	ARID3A	chr12:120656549-120656953	HepG2	liver:	n/a	n/a
20	ARID3A	chr12:120632422-120632557	K562	blood:	n/a	n/a
21	ATF1	chr12:120668369-120668766	K562	blood:	n/a	n/a
22	ATF1	chr12:120672441-120672935	K562	blood:	n/a	n/a
23	ATF1	chr12:120638745-120639265	K562	blood:	n/a	n/a
24	ATF1	chr12:120669069-120669515	K562	blood:	n/a	n/a
25	ATF2	chr12:120668243-120668715	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr12:120635149-120635617	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr12:120594673-120595164	GM12878	blood:	n/a	n/a
28	ATF2	chr12:120633541-120634103	GM12878	blood:	n/a	n/a
29	ATF2	chr12:120555196-120555664	GM12878	blood:	n/a	n/a
30	ATF2	chr12:120666023-120667163	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr12:120570443-120571328	GM12878	blood:	n/a	n/a
32	ATF2	chr12:120554588-120555633	GM12878	blood:	n/a	n/a
33	ATF2	chr12:120548165-120548824	GM12878	blood:	n/a	n/a
34	ATF2	chr12:120668129-120668714	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr12:120561390-120562171	GM12878	blood:	n/a	n/a
36	ATF2	chr12:120638640-120639170	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr12:120634692-120635137	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr12:120632604-120633273	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr12:120559256-120560108	GM12878	blood:	n/a	n/a
40	ATF2	chr12:120632630-120633088	GM12878	blood:	n/a	n/a
41	ATF2	chr12:120637564-120637992	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr12:120665683-120667184	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr12:120633777-120634339	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr12:120638658-120639432	GM12878	blood:	n/a	n/a
45	ATF2	chr12:120638325-120639471	GM12878	blood:	n/a	n/a
46	ATF2	chr12:120632270-120633382	GM12878	blood:	n/a	n/a
47	ATF2	chr12:120634618-120635012	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr12:120557029-120557951	GM12878	blood:	n/a	n/a
49	ATF2	chr12:120557068-120557800	GM12878	blood:	n/a	n/a
50	ATF2	chr12:120638218-120639348	H1-hESC	embryonic stem cell:	n/a	n/a

(count:4581 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120666924-120666974	GM19239	blood:	n/a
2	chr12:120541737-120541787	Hepatocyte	liver:	n/a
3	chr12:120652844-120652894	BJ	skin:	n/a
4	chr12:120663812-120663862	GM19239	blood:	n/a
5	chr12:120637158-120637208	SKMC	muscle:	n/a
6	chr12:120652604-120652654	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:120666924-120666974	GM19239	blood:	n/a
8	chr12:120541737-120541787	Hepatocyte	liver:	n/a
9	chr12:120652844-120652894	BJ	skin:	n/a
10	chr12:120663812-120663862	GM19239	blood:	n/a
11	chr12:120637158-120637208	SKMC	muscle:	n/a
12	chr12:120652604-120652654	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:120632772-120632822	ECC-1	luminal epithelium:	n/a
14	chr12:120541617-120541667	BE2_C	brain:	n/a
15	chr12:120632364-120632414	PANC-1	pancreas:	n/a
16	chr12:120638514-120638564	PANC-1	pancreas:	n/a
17	chr12:120637158-120637208	HCF	heart:	n/a
18	chr12:120663812-120663862	HRPEpiC	eye:	n/a
19	chr12:120536939-120536989	NHBE	bronchial:	n/a
20	chr12:120541617-120541667	GM12892	blood:	n/a
21	chr12:120650392-120650442	RPTEC	kidney:	n/a
22	chr12:120639051-120639101	HCT-116	colon:	n/a
23	chr12:120639051-120639101	HCPEpiC	choroid plexus:	n/a
24	chr12:120663824-120663874	HepG2	liver:	n/a
25	chr12:120554472-120554522	T-47D	breast:	n/a
26	chr12:120534798-120534848	PFSK-1	brain:	n/a
27	chr12:120639115-120639165	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:120638514-120638564	BE2_C	brain:	n/a
29	chr12:120635258-120635308	CMK	blood:	n/a
30	chr12:120633054-120633104	HL-60	blood:	n/a
31	chr12:120541617-120541667	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:120551806-120551856	SAEC	small airway:	n/a
33	chr12:120628882-120628932	AG09319	gingival:	n/a
34	chr12:120638514-120638564	HCM	heart:	n/a
35	chr12:120553302-120553352	NH-A	brain:	n/a
36	chr12:120632649-120632699	HRPEpiC	eye:	n/a
37	chr12:120673235-120673285	PFSK-1	brain:	n/a
38	chr12:120538681-120538731	HCF	heart:	n/a
39	chr12:120652844-120652894	GM12891	blood:	n/a
40	chr12:120539137-120539187	HL-60	blood:	n/a
41	chr12:120632649-120632699	BJ	skin:	n/a
42	chr12:120541617-120541667	GM19239	blood:	n/a
43	chr12:120638514-120638564	SKMC	muscle:	n/a
44	chr12:120541737-120541787	Hela-S3	cervix:	n/a
45	chr12:120652714-120652764	GM12878	blood:	n/a
46	chr12:120633054-120633104	HAEpiC	amniotic membrane:	n/a
47	chr12:120536939-120536989	GM19239	blood:	n/a
48	chr12:120578192-120578242	Hela-S3	cervix:	n/a
49	chr12:120621244-120621294	HAEpiC	amniotic membrane:	n/a
50	chr12:120555201-120555251	HRE	kidney:	n/a

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr12:120583085..120585428-chr12:120589677..120591389,2	MCF-7	breast:
2	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:
3	chr12:120528996..120531217-chr12:120552975..120554934,2	MCF-7	breast:
4	chr12:120637262..120638804-chr19:58898635..58900812,2	MCF-7	breast:
5	chr12:120580898..120582942-chr12:120588270..120591019,2	MCF-7	breast:
6	chr12:120632252..120633121-chr19:39897386..39898105,2	Hela-S3	cervix:
7	chr12:120554002..120554524-chr2:21022330..21023236,2	Hela-S3	cervix:
8	chr12:120576095..120579770-chr12:120584354..120586008,3	K562	blood:
9	chr12:120575018..120577152-chr12:120580218..120582213,2	MCF-7	breast:
10	chr12:120554072..120556853-chr12:120607712..120610177,2	K562	blood:
11	chr12:120632678..120633360-chrX:133930768..133931430,2	HCT-116	colon:
12	chr11:62435015..62436981-chr12:120666928..120669201,2	MCF-7	breast:
13	chr12:120638843..120641556-chr17:57912792..57915356,2	MCF-7	breast:
14	chr10:134144847..134145349-chr12:120638383..120639335,2	Hela-S3	cervix:
15	chr12:120553299..120556376-chr12:120632430..120634315,3	MCF-7	breast:
16	chr12:120562054..120563752-chr12:120583178..120584938,2	K562	blood:
17	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:
18	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
19	chr12:120632625..120633570-chr15:23033849..23034537,2	NB4	blood:
20	chr12:120577095..120579573-chr12:120622728..120624803,2	K562	blood:
21	chr12:120604047..120606522-chr12:120634932..120636493,2	MCF-7	breast:
22	chr12:120552392..120555226-chr12:120651661..120653636,3	K562	blood:
23	chr12:120638567..120639072-chrX:117479733..117480618,2	Hela-S3	cervix:
24	chr12:120665847..120666930-chr12:120754843..120755708,4	MCF-7	breast:
25	chr12:120575987..120578062-chr12:120634816..120636487,2	K562	blood:
26	chr12:120551430..120553069-chr12:120632996..120634781,2	MCF-7	breast:
27	chr12:120673268..120675203-chr12:120695406..120697160,2	K562	blood:
28	chr12:120577537..120579959-chr12:120630858..120632870,2	MCF-7	breast:
29	chr12:88973936..88974897-chr12:120638397..120639020,2	Hela-S3	cervix:
30	chr12:120595336..120597283-chr12:120628290..120631093,2	K562	blood:
31	chr12:120587776..120590251-chr12:120726393..120729476,3	MCF-7	breast:
32	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
33	chr12:120665811..120666331-chr12:120728849..120729433,2	MCF-7	breast:
34	chr12:120569171..120570951-chr12:120586181..120588091,2	MCF-7	breast:
35	chr12:120516359..120519600-chr12:120552938..120556302,7	MCF-7	breast:
36	chr12:120599855..120602447-chr12:120604599..120606959,2	MCF-7	breast:
37	chr12:120604267..120605924-chr12:120728512..120730416,2	MCF-7	breast:
38	chr12:120520820..120522899-chr12:120549617..120551295,2	K562	blood:
39	chr12:120563247..120566138-chr12:120667553..120669800,2	MCF-7	breast:
40	chr12:120554472..120557367-chr12:120570703..120573027,2	K562	blood:
41	chr12:120587276..120588807-chr12:120602039..120603973,2	K562	blood:
42	chr12:120556435..120559071-chr12:120718655..120721387,2	MCF-7	breast:
43	chr12:120589050..120592801-chr12:120631386..120634506,4	K562	blood:
44	chr12:120559688..120561260-chr12:120583869..120585789,2	K562	blood:
45	chr12:120568741..120569300-chr17:25571514..25572114,2	NB4	blood:
46	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
47	chr12:120665789..120666781-chr12:120703249..120703858,2	MCF-7	breast:
48	chr12:120565131..120567860-chr12:120728248..120730165,2	K562	blood:
49	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
50	chr12:120638455..120639032-chr18:32923907..32924893,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC64-1	chr12:120554711-120556800	NONHSAT031106
2	lnc-RPLP0-4	chr12:120664409-120664920	NONHSAT031126
3	lnc-GCN1L1-3	chr12:120532903-120534645	NONHSAT031105
4	lnc-RPLP0-4	chr12:120664458-120664920	NONHSAT031127

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
RAB35	TF binding region
PXN-AS1	TF binding region
ENSG00000263913	TF binding region
MIR4498	TF binding region
PXN	TF binding region
GCN1L1	TF binding region
RPLP0	TF binding region
RAB35	CpG island
PXN-AS1	CpG island
ENSG00000263913	CpG island
MIR4498	CpG island
PXN	CpG island
GCN1L1	CpG island
RPLP0	CpG island
ENSG00000071539	chromatin interactions
ENSG00000196449	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000064961	chromatin interactions
ENSG00000196366	chromatin interactions
ENSG00000159199	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000263913	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000181904	chromatin interactions
ENSG00000028310	chromatin interactions
ENSG00000118961	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000156500	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000100714	chromatin interactions
ENSG00000085491	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000156504	chromatin interactions
ENSG00000186517	chromatin interactions
ENSG00000260879	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000172466	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000105011	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000197982	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000049130	chromatin interactions
ENSG00000264364	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000034677	chromatin interactions
ENSG00000100162	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000173137	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000123009	chromatin interactions
ENSG00000170890	chromatin interactions
ENSG00000002834	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000117614	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000188672	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000237489	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000219545	chromatin interactions
ENSG00000143479	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000089163	chromatin interactions
ENSG00000266290	chromatin interactions
ENSG00000144655	chromatin interactions
ENSG00000131725	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000266704	chromatin interactions
ENSG00000237605	chromatin interactions
ENSG00000075461	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000122966	chromatin interactions
ENSG00000146247	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000120705	chromatin interactions
ENSG00000141447	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000140157	chromatin interactions
ENSG00000111780	chromatin interactions

Extended variants
information (count: 5783 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:5783 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1057686	chr12:120533696-120533697	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151295649	chr12:120533701-120533702	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs181793031	chr12:120533798-120533799	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs374073600	chr12:120533813-120533814	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs558180851	chr12:120533818-120533819	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs571988654	chr12:120533834-120533835	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs76321011	chr12:120533839-120533840	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs561051801	chr12:120533846-120533847	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs140505094	chr12:120533852-120533853	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs543244932	chr12:120533856-120533857	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs539769851	chr12:120533860-120533861	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs71454625	chr12:120533868-120533869	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs563029612	chr12:120533954-120533955	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs2240311	chr12:120533965-120533966	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545713512	chr12:120533980-120533981	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs376551951	chr12:120534035-120534036	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs565307845	chr12:120534054-120534055	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs527700553	chr12:120534073-120534074	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs547448862	chr12:120534108-120534109	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs7312244	chr12:120534147-120534148	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376860268	chr12:120534167-120534168	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs530100193	chr12:120534276-120534277	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs549607970	chr12:120534284-120534285	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs569514529	chr12:120534314-120534315	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs185179033	chr12:120534418-120534419	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs188990842	chr12:120534446-120534447	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs548226397	chr12:120534469-120534470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs1054631	chr12:120534471-120534472	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138216244	chr12:120534503-120534504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs374910847	chr12:120534507-120534508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs141261867	chr12:120534564-120534565	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs574483515	chr12:120534606-120534607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs543534052	chr12:120534609-120534610	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs556842637	chr12:120534667-120534668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs117978621	chr12:120534673-120534674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181386973	chr12:120534682-120534683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138775890	chr12:120534727-120534728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs149320559	chr12:120534741-120534742	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs376818740	chr12:120534752-120534753	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs185668348	chr12:120534756-120534757	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs561118334	chr12:120534759-120534760	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs144556851	chr12:120534775-120534776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs148026831	chr12:120534786-120534787	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs141684788	chr12:120534788-120534789	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs532188840	chr12:120534789-120534790	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs551922792	chr12:120534792-120534793	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs560719353	chr12:120534804-120534805	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs190030934	chr12:120534826-120534827	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs534572274	chr12:120534850-120534851	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs180681655	chr12:120534854-120534855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:6402 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525400-120534200	Weak transcription	Right Atrium	heart
2	chr12:120525600-120533800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:120525600-120536000	Weak transcription	NHDF-Ad	bronchial
4	chr12:120525600-120539200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:120525800-120533800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:120525800-120536200	Weak transcription	Hela-S3	cervix
8	chr12:120525800-120539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
11	chr12:120527600-120537600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:120527600-120538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:120527600-120539200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:120527600-120539800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:120528400-120536800	Strong transcription	Esophagus	oesophagus
18	chr12:120528400-120537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:120528600-120537400	Strong transcription	Gastric	stomach
20	chr12:120528600-120537800	Strong transcription	Pancreas	Pancrea
21	chr12:120528600-120538400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:120528600-120538800	Strong transcription	NHEK	skin
23	chr12:120529000-120540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:120529000-120546800	Strong transcription	Dnd41	blood
25	chr12:120529200-120537800	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr12:120529400-120535200	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr12:120529400-120538400	Strong transcription	Lung	lung
28	chr12:120529400-120538400	Strong transcription	NHLF	lung
29	chr12:120529600-120533800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:120529600-120538200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:120529600-120538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:120529600-120538200	Weak transcription	Psoas Muscle	Psoas
33	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:120529800-120539200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
36	chr12:120530000-120539200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:120530200-120533800	Strong transcription	Right Ventricle	heart
38	chr12:120530200-120534400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:120530200-120535400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:120530200-120536000	Weak transcription	HSMM	muscle
41	chr12:120530400-120537200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:120530400-120538400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:120530600-120533800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:120530600-120534000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:120530600-120534200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:120530800-120534800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:120530800-120540400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:120531000-120535200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:120531200-120533800	Weak transcription	Colonic Mucosa	Colon
50	chr12:120531200-120534600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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