Variant report

Variant	nsv427913
Chromosome Location	chr12:60462443-60569344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:770)
CpG islands
(count:62)
Chromatin interactive
region (count:54)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:60516253-60516435	K562	blood:	n/a	n/a
2	ARID3A	chr12:60537430-60538660	K562	blood:	n/a	chr12:60537712-60537728
3	ARID3A	chr12:60535077-60535088	K562	blood:	n/a	n/a
4	ARID3A	chr12:60541815-60542438	K562	blood:	n/a	n/a
5	ARID3A	chr12:60562277-60562601	HepG2	liver:	n/a	n/a
6	ATF1	chr12:60538204-60538547	K562	blood:	n/a	n/a
7	ATF1	chr12:60471816-60472199	K562	blood:	n/a	n/a
8	BACH1	chr12:60532359-60532629	K562	blood:	n/a	n/a
9	BACH1	chr12:60531305-60531407	K562	blood:	n/a	n/a
10	BHLHE40	chr12:60562301-60562557	K562	blood:	n/a	n/a
11	BHLHE40	chr12:60471887-60471910	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:60562274-60562618	HepG2	liver:	n/a	n/a
13	BHLHE40	chr12:60538230-60538531	K562	blood:	n/a	n/a
14	BHLHE40	chr12:60513331-60513358	K562	blood:	n/a	n/a
15	BHLHE40	chr12:60541969-60542355	K562	blood:	n/a	n/a
16	CBX3	chr12:60519937-60520277	K562	blood:	n/a	n/a
17	CBX3	chr12:60501770-60502080	K562	blood:	n/a	n/a
18	CCNT2	chr12:60538138-60538631	K562	blood:	n/a	n/a
19	CEBPB	chr12:60505966-60506178	A549	lung:	n/a	n/a
20	CEBPB	chr12:60542628-60542961	IMR90	lung:	n/a	n/a
21	CEBPB	chr12:60567122-60567754	A549	lung:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
22	CEBPB	chr12:60487941-60488315	Hela-S3	cervix:	n/a	chr12:60488086-60488097 chr12:60488086-60488099
23	CEBPB	chr12:60567158-60567749	HepG2	liver:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
24	CEBPB	chr12:60562146-60562730	A549	lung:	n/a	n/a
25	CEBPB	chr12:60562275-60562597	A549	lung:	n/a	n/a
26	CEBPB	chr12:60567280-60567824	HCT-116	colon:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
27	CEBPB	chr12:60505855-60506196	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:60500622-60500773	K562	blood:	n/a	n/a
29	CEBPB	chr12:60505875-60506213	IMR90	lung:	n/a	n/a
30	CEBPB	chr12:60567281-60567816	K562	blood:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
31	CEBPB	chr12:60532310-60532417	HepG2	liver:	n/a	chr12:60532347-60532358
32	CEBPB	chr12:60513111-60513659	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr12:60538132-60538442	K562	blood:	n/a	n/a
34	CEBPB	chr12:60563683-60564061	IMR90	lung:	n/a	n/a
35	CEBPB	chr12:60505837-60506241	K562	blood:	n/a	n/a
36	CEBPB	chr12:60526140-60526175	K562	blood:	n/a	n/a
37	CEBPB	chr12:60567161-60567987	H1-hESC	embryonic stem cell:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
38	CEBPB	chr12:60567441-60567657	HepG2	liver:	n/a	chr12:60567548-60567559
39	CEBPB	chr12:60567302-60567831	MCF-7	breast:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
40	CEBPB	chr12:60517185-60517778	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr12:60567388-60567770	MCF-7	breast:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
42	CEBPB	chr12:60567341-60567768	ECC-1	luminal epithelium:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
43	CEBPB	chr12:60505870-60506180	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr12:60541899-60542220	IMR90	lung:	n/a	n/a
45	CEBPB	chr12:60567359-60567788	A549	lung:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
46	CEBPB	chr12:60567383-60567744	HepG2	liver:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
47	CEBPB	chr12:60562273-60562632	MCF-7	breast:	n/a	n/a
48	CEBPB	chr12:60464408-60464802	MCF-7	breast:	n/a	n/a
49	CEBPB	chr12:60567164-60567746	Hela-S3	cervix:	n/a	chr12:60567548-60567559 chr12:60567423-60567434
50	CEBPB	chr12:60567228-60567819	A549	lung:	n/a	chr12:60567548-60567559 chr12:60567423-60567434

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:60567672-60567722	HRPEpiC	eye:	n/a
2	chr12:60567672-60567722	HRPEpiC	eye:	n/a
3	chr12:60567672-60567722	LNCaP	prostate:	n/a
4	chr12:60567672-60567722	PANC-1	pancreas:	n/a
5	chr12:60567672-60567722	U87	brain:	n/a
6	chr12:60567672-60567722	HL-60	blood:	n/a
7	chr12:60567672-60567722	HCT-116	colon:	n/a
8	chr12:60567672-60567722	AoSMC	blood vessel:	n/a
9	chr12:60567672-60567722	HEEpiC	esophagus:	n/a
10	chr12:60567672-60567722	Hela-S3	cervix:	n/a
11	chr12:60567672-60567722	CMK	blood:	n/a
12	chr12:60567672-60567722	SK-N-SH_RA	brain:	n/a
13	chr12:60567672-60567722	GM12878	blood:	n/a
14	chr12:60567672-60567722	ProgFib	skin:	n/a
15	chr12:60567672-60567722	AG10803	skin:	n/a
16	chr12:60567672-60567722	HEK293	kidney:	embryo
17	chr12:60567672-60567722	Hepatocyte	liver:	n/a
18	chr12:60567672-60567722	GM12891	blood:	n/a
19	chr12:60567672-60567722	NH-A	brain:	n/a
20	chr12:60567672-60567722	HRE	kidney:	n/a
21	chr12:60567672-60567722	SAEC	small airway:	n/a
22	chr12:60567672-60567722	NT2-D1	testis:	n/a
23	chr12:60567672-60567722	GM12892	blood:	n/a
24	chr12:60567672-60567722	HRCEpiC	kidney:	n/a
25	chr12:60567672-60567722	AG04449	skin:	fetal
26	chr12:60567672-60567722	SK-N-SH	brain:	n/a
27	chr12:60567672-60567722	HCPEpiC	choroid plexus:	n/a
28	chr12:60567672-60567722	SK-N-MC	brain:	n/a
29	chr12:60567672-60567722	HCM	heart:	n/a
30	chr12:60567672-60567722	ovcar-3	ovarian:	n/a
31	chr12:60567672-60567722	BJ	skin:	n/a
32	chr12:60567672-60567722	HNPCEpiC	eye:	n/a
33	chr12:60567672-60567722	HAEpiC	amniotic membrane:	n/a
34	chr12:60567672-60567722	ECC-1	luminal epithelium:	n/a
35	chr12:60567672-60567722	SKMC	muscle:	n/a
36	chr12:60567672-60567722	MCF-7	breast:	n/a
37	chr12:60567672-60567722	NB4	blood:	n/a
38	chr12:60567672-60567722	RPTEC	kidney:	n/a
39	chr12:60567672-60567722	Jurkat	blood:	n/a
40	chr12:60567672-60567722	AG09309	skin:	n/a
41	chr12:60567672-60567722	NHDF-neo	bronchial:	n/a
42	chr12:60567672-60567722	PrEC	prostate:	n/a
43	chr12:60567672-60567722	AG09319	gingival:	n/a
44	chr12:60567672-60567722	Caco-2	colon:	n/a
45	chr12:60567672-60567722	HepG2	liver:	n/a
46	chr12:60567672-60567722	GM19239	blood:	n/a
47	chr12:60567672-60567722	GM06990	blood:	n/a
48	chr12:60567672-60567722	PFSK-1	brain:	n/a
49	chr12:60567672-60567722	AG04450	lung:	fetal
50	chr12:60567672-60567722	K562	blood:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:60478315..60480971-chr12:60488037..60490719,3	MCF-7	breast:
2	chr12:60550084..60551908-chr12:60553624..60555521,2	MCF-7	breast:
3	chr12:60473802..60475803-chr12:60480234..60482937,2	MCF-7	breast:
4	chr12:60466814..60469463-chr12:60479017..60481348,2	MCF-7	breast:
5	chr12:60567397..60569705-chr12:60602116..60603911,2	K562	blood:
6	chr12:60483685..60486608-chr12:60491764..60494624,2	MCF-7	breast:
7	chr12:60466885..60469119-chr12:60493136..60496064,3	MCF-7	breast:
8	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
9	chr12:60464696..60468583-chr12:60490353..60494821,4	MCF-7	breast:
10	chr12:60459856..60461380-chr12:60466711..60469397,2	MCF-7	breast:
11	chr12:60485367..60488154-chr12:60489421..60491431,2	MCF-7	breast:
12	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:
13	chr12:60468174..60469728-chr12:60471025..60473459,2	MCF-7	breast:
14	chr12:60567857..60570326-chr12:60575154..60577967,2	K562	blood:
15	chr12:60464696..60468583-chr12:60490353..60494821,4	MCF-7	breast:
16	chr12:60554713..60557488-chr12:60585301..60588073,2	MCF-7	breast:
17	chr12:60466885..60469119-chr12:60493136..60496064,3	MCF-7	breast:
18	chr12:60478315..60480971-chr12:60488037..60490719,3	MCF-7	breast:
19	chr12:60483685..60486608-chr12:60491764..60494624,2	MCF-7	breast:
20	chr12:60545261..60548162-chr12:60566803..60568706,2	K562	blood:
21	chr12:60563916..60564532-chr5:120756222..120756804,2	MCF-7	breast:
22	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
23	chr12:60558094..60560220-chr12:60756513..60758831,2	MCF-7	breast:
24	chr12:60567260..60569470-chr12:60576239..60579233,2	MCF-7	breast:
25	chr12:60535718..60536628-chr12:60888012..60888523,2	MCF-7	breast:
26	chr12:60471895..60473733-chr12:60474074..60477071,2	MCF-7	breast:
27	chr12:60466814..60469463-chr12:60479017..60481348,2	MCF-7	breast:
28	chr12:60465097..60467873-chr12:60470417..60472937,3	MCF-7	breast:
29	chr12:60556765..60558299-chr12:60600713..60603668,2	K562	blood:
30	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
31	chr12:60460447..60462196-chr12:60466989..60469396,2	K562	blood:
32	chr12:60540647..60543131-chr12:62652569..62655278,2	K562	blood:
33	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:
34	chr12:60472741..60475079-chr12:60479250..60481071,2	K562	blood:
35	chr12:60473802..60475803-chr12:60480234..60482937,2	MCF-7	breast:
36	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
37	chr12:60550084..60551908-chr12:60553624..60555521,2	MCF-7	breast:
38	chr12:60493772..60496447-chr12:60496844..60499476,2	K562	blood:
39	chr12:60461970..60464211-chr12:60465232..60466795,2	MCF-7	breast:
40	chr12:60471895..60473733-chr12:60474074..60477071,2	MCF-7	breast:
41	chr12:60499782..60500621-chr12:60887467..60888321,3	MCF-7	breast:
42	chr12:60461970..60464211-chr12:60465232..60466795,2	MCF-7	breast:
43	chr12:60465097..60467873-chr12:60470417..60472937,3	MCF-7	breast:
44	chr12:60545261..60548162-chr12:60566803..60568706,2	K562	blood:
45	chr12:60539977..60540691-chr18:58172003..58172727,2	MCF-7	breast:
46	chr12:60472741..60475079-chr12:60479250..60481071,2	K562	blood:
47	chr12:60481263..60483527-chr12:60485827..60488653,2	K562	blood:
48	chr12:60493772..60496447-chr12:60496844..60499476,2	K562	blood:
49	chr12:60463450..60465824-chr12:60478986..60481258,2	MCF-7	breast:
50	chr12:60468174..60469728-chr12:60471025..60473459,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-2	chr12:60486645-60486690	ENSG00000257294
2	lnc-SLC16A7-2	chr12:60488910-60489632	ENSG00000257294

No data

Variant related genes	Relation type
ENSG00000257294	TF binding region
ENSG00000257294	CpG island
ENSG00000135655	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000251822	chromatin interactions
ENSG00000257294	chromatin interactions

Extended variants
information (count: 3090 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3090 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148104847	chr12:60462465-60462466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577743220	chr12:60462466-60462467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373404029	chr12:60462473-60462474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531945312	chr12:60462591-60462592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534002161	chr12:60462600-60462601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553963823	chr12:60462601-60462602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574140929	chr12:60462678-60462679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56150658	chr12:60462737-60462738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373875569	chr12:60462743-60462744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117508313	chr12:60462750-60462751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11173313	chr12:60462805-60462806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544252201	chr12:60462887-60462888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564039794	chr12:60462905-60462906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373565172	chr12:60462914-60462915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181965411	chr12:60462943-60462944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183689965	chr12:60463009-60463010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546677013	chr12:60463047-60463048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187959822	chr12:60463076-60463077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17123272	chr12:60463090-60463091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548894345	chr12:60463153-60463154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569168008	chr12:60463292-60463293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10877391	chr12:60463297-60463298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551383349	chr12:60463304-60463305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375868573	chr12:60463310-60463311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566484833	chr12:60463325-60463326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534039104	chr12:60463329-60463330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73364852	chr12:60463333-60463334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567654316	chr12:60463342-60463343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536882632	chr12:60463354-60463355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114232832	chr12:60463376-60463377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181227299	chr12:60463397-60463398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534786461	chr12:60463417-60463418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556445071	chr12:60463422-60463423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185623328	chr12:60463443-60463444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17123277	chr12:60463451-60463452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568465694	chr12:60463474-60463475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540229473	chr12:60463527-60463528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141858739	chr12:60463534-60463535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528966978	chr12:60463563-60463564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542836488	chr12:60463601-60463602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562516248	chr12:60463606-60463607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11173314	chr12:60463615-60463616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551223892	chr12:60463644-60463645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571315082	chr12:60463645-60463646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557094069	chr12:60463647-60463648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201245126	chr12:60463653-60463654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372873189	chr12:60463654-60463655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527728533	chr12:60463670-60463671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58939073	chr12:60463672-60463673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150609493	chr12:60463673-60463674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60454400-60464000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60464000-60464200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:60464000-60464200	Enhancers	HMEC	breast
4	chr12:60464000-60464600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:60464000-60467400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:60464000-60467400	Enhancers	NHEK	skin
7	chr12:60464200-60465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:60464200-60465200	Weak transcription	HMEC	breast
9	chr12:60464200-60466800	Enhancers	HUVEC	blood vessel
10	chr12:60464400-60464600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:60464400-60464600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:60464600-60465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:60464600-60465600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:60465000-60466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:60465000-60467400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:60465200-60465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:60465200-60467000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:60465200-60467000	Enhancers	HMEC	breast
19	chr12:60465600-60467000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:60465800-60467600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:60466000-60466400	Enhancers	Aorta	Aorta
22	chr12:60466000-60467400	Enhancers	NH-A	brain
23	chr12:60466200-60467400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:60466200-60467400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:60466400-60467000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:60466400-60467600	Enhancers	Fetal Heart	heart
27	chr12:60466600-60467000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:60466600-60467400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:60466600-60467400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:60466600-60468200	Enhancers	NHDF-Ad	bronchial
31	chr12:60467000-60467400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:60467000-60467400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:60467000-60475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:60467400-60469000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:60467600-60471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:60467800-60468200	Enhancers	Fetal Muscle Leg	muscle
37	chr12:60469000-60469200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:60471400-60471800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:60471400-60473000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:60471600-60473000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:60471800-60472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr12:60471800-60472200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:60472200-60472800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:60475000-60475400	Enhancers	HUVEC	blood vessel
45	chr12:60475000-60476400	Enhancers	NHEK	skin
46	chr12:60475200-60475400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:60475400-60475600	Flanking Active TSS	HUVEC	blood vessel
48	chr12:60475400-60475800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:60475400-60476400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:60475600-60475800	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links