Variant report

Variant	nsv832377
Chromosome Location	chr12:40704881-40855223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1152)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:51)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1152 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40840290-40840374	K562	blood:	n/a	n/a
2	ATF2	chr12:40707639-40708167	GM12878	blood:	n/a	n/a
3	ATF2	chr12:40830307-40830707	GM12878	blood:	n/a	n/a
4	ATF2	chr12:40707693-40708075	GM12878	blood:	n/a	n/a
5	BATF	chr12:40707717-40708130	GM12878	blood:	n/a	chr12:40707752-40707761 chr12:40707963-40707974
6	BATF	chr12:40707731-40708124	GM12878	blood:	n/a	chr12:40707752-40707761 chr12:40707963-40707974
7	BCL11A	chr12:40707747-40708026	GM12878	blood:	n/a	n/a
8	BCL11A	chr12:40707762-40708143	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:40706940-40707092	GM12878	blood:	n/a	n/a
10	BHLHE40	chr12:40707654-40708101	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:40832068-40832069	K562	blood:	n/a	n/a
12	CEBPB	chr12:40765667-40765959	HepG2	liver:	n/a	chr12:40765812-40765823
13	CEBPB	chr12:40818440-40818807	HepG2	liver:	n/a	chr12:40818529-40818540 chr12:40818717-40818728
14	CEBPB	chr12:40818440-40818848	A549	lung:	n/a	chr12:40818529-40818540 chr12:40818717-40818728
15	CEBPB	chr12:40767587-40767770	HepG2	liver:	n/a	chr12:40767650-40767661
16	CEBPB	chr12:40719215-40719560	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:40748360-40748390	A549	lung:	n/a	n/a
18	CEBPB	chr12:40765714-40765997	A549	lung:	n/a	chr12:40765812-40765823
19	CEBPB	chr12:40730424-40730627	H1-hESC	embryonic stem cell:	n/a	chr12:40730501-40730514
20	CEBPB	chr12:40755590-40755779	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:40791310-40791585	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:40791302-40791514	A549	lung:	n/a	n/a
23	CEBPB	chr12:40722277-40722522	HepG2	liver:	n/a	chr12:40722377-40722388 chr12:40722378-40722389 chr12:40722377-40722388 chr12:40722377-40722390 chr12:40722377-40722390
24	CEBPB	chr12:40826439-40826590	A549	lung:	n/a	n/a
25	CEBPB	chr12:40837421-40837422	K562	blood:	n/a	n/a
26	CEBPB	chr12:40719210-40719516	A549	lung:	n/a	n/a
27	CEBPB	chr12:40818598-40818846	IMR90	lung:	n/a	chr12:40818717-40818728
28	CEBPB	chr12:40719217-40719570	ECC-1	luminal epithelium:	n/a	n/a
29	CHD1	chr12:40706880-40707047	GM12878	blood:	n/a	n/a
30	CTCF	chr12:40730339-40730742	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:40730447-40730625	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:40840320-40840470	GM12865	blood:	n/a	n/a
33	CTCF	chr12:40769040-40769190	BE2_C	brain:	n/a	n/a
34	CTCF	chr12:40719206-40719410	HepG2	liver:	n/a	n/a
35	CTCF	chr12:40769000-40769150	AG09309	skin:	n/a	n/a
36	CTCF	chr12:40730480-40730630	GM12865	blood:	n/a	n/a
37	CTCF	chr12:40719240-40719390	BE2_C	brain:	n/a	n/a
38	CTCF	chr12:40706920-40707070	AG04450	lung:	n/a	chr12:40706975-40706991 chr12:40706974-40706992 chr12:40706977-40706987 chr12:40706969-40706990
39	CTCF	chr12:40840200-40840350	HAc	cerebellar:	n/a	n/a
40	CTCF	chr12:40840280-40840430	HPF	lung:	n/a	n/a
41	CTCF	chr12:40706900-40707050	SK-N-SH_RA	brain:	n/a	chr12:40706975-40706991 chr12:40706974-40706992 chr12:40706977-40706987 chr12:40706969-40706990
42	CTCF	chr12:40719280-40719430	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr12:40719204-40719461	NHEK	skin:	n/a	n/a
44	CTCF	chr12:40730480-40730630	HVMF	connective:	n/a	n/a
45	CTCF	chr12:40706760-40706910	A549	lung:	n/a	n/a
46	CTCF	chr12:40840320-40840470	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:40730560-40730710	WI-38	lung:	n/a	n/a
48	CTCF	chr12:40706816-40707105	K562	blood:	n/a	chr12:40706975-40706991 chr12:40706974-40706992 chr12:40706977-40706987 chr12:40706969-40706990
49	CTCF	chr12:40719188-40719515	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr12:40840300-40840450	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40747204-40747254	HNPCEpiC	eye:	n/a
2	chr12:40747204-40747254	HCT-116	colon:	n/a
3	chr12:40747204-40747254	RPTEC	kidney:	n/a
4	chr12:40747204-40747254	NB4	blood:	n/a
5	chr12:40747204-40747254	AG09309	skin:	n/a
6	chr12:40747204-40747254	Hela-S3	cervix:	n/a
7	chr12:40747204-40747254	K562	blood:	n/a
8	chr12:40747204-40747254	U87	brain:	n/a
9	chr12:40747204-40747254	CMK	blood:	n/a
10	chr12:40747204-40747254	HCF	heart:	n/a
11	chr12:40747204-40747254	ovcar-3	ovarian:	n/a
12	chr12:40747204-40747254	AG04450	lung:	fetal
13	chr12:40747204-40747254	BE2_C	brain:	n/a
14	chr12:40747204-40747254	SK-N-SH_RA	brain:	n/a
15	chr12:40747204-40747254	HRPEpiC	eye:	n/a
16	chr12:40747204-40747254	T-47D	breast:	n/a
17	chr12:40747204-40747254	HAEpiC	amniotic membrane:	n/a
18	chr12:40747204-40747254	MCF-7	breast:	n/a
19	chr12:40747204-40747254	GM06990	blood:	n/a
20	chr12:40747204-40747254	ProgFib	skin:	n/a
21	chr12:40747204-40747254	HEEpiC	esophagus:	n/a
22	chr12:40747204-40747254	NH-A	brain:	n/a
23	chr12:40747204-40747254	HCM	heart:	n/a
24	chr12:40747204-40747254	SKMC	muscle:	n/a
25	chr12:40747204-40747254	AG10803	skin:	n/a
26	chr12:40747204-40747254	HMEC	breast:	n/a
27	chr12:40747204-40747254	HepG2	liver:	n/a
28	chr12:40747204-40747254	GM12891	blood:	n/a
29	chr12:40747204-40747254	A549	lung:	n/a
30	chr12:40747204-40747254	HRCEpiC	kidney:	n/a
31	chr12:40747204-40747254	HUVEC	blood vessel:	n/a
32	chr12:40747204-40747254	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:40747204-40747254	AG09319	gingival:	n/a
34	chr12:40747204-40747254	AoSMC	blood vessel:	n/a
35	chr12:40747204-40747254	GM12892	blood:	n/a
36	chr12:40747204-40747254	HRE	kidney:	n/a
37	chr12:40747204-40747254	MCF10A-Er-Src	breast:	n/a
38	chr12:40747204-40747254	GM12878	blood:	n/a
39	chr12:40747204-40747254	PANC-1	pancreas:	n/a
40	chr12:40747204-40747254	H1-hESC	embryonic stem cell:	embryo
41	chr12:40747204-40747254	Caco-2	colon:	n/a
42	chr12:40747204-40747254	SK-N-SH	brain:	n/a
43	chr12:40747204-40747254	PrEC	prostate:	n/a
44	chr12:40747204-40747254	LNCaP	prostate:	n/a
45	chr12:40747204-40747254	HL-60	blood:	n/a
46	chr12:40747204-40747254	GM19239	blood:	n/a
47	chr12:40747204-40747254	SK-N-MC	brain:	n/a
48	chr12:40747204-40747254	HCPEpiC	choroid plexus:	n/a
49	chr12:40747204-40747254	Jurkat	blood:	n/a
50	chr12:40747204-40747254	PFSK-1	brain:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40730058..40730795-chr12:40768301..40769589,4	MCF-7	breast:
2	chr12:40802735..40804254-chr12:40811941..40814562,2	K562	blood:
3	chr12:40719199..40719744-chr12:41315365..41315912,2	MCF-7	breast:
4	chr12:40718708..40719694-chr12:40730425..40731019,2	MCF-7	breast:
5	chr12:40719158..40719845-chr12:40839913..40840458,2	MCF-7	breast:
6	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo
7	chr12:40718883..40719693-chr12:40958776..40959283,2	MCF-7	breast:
8	chr12:40768243..40769926-chr12:40782774..40784277,2	K562	blood:
9	chr12:40852289..40854135-chr12:40855976..40858813,2	K562	blood:
10	chr12:40719158..40719845-chr12:40839913..40840458,2	MCF-7	breast:
11	chr12:40730058..40730795-chr12:40768301..40769589,4	MCF-7	breast:
12	chr12:40718708..40719694-chr12:40730425..40731019,2	MCF-7	breast:
13	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo
14	chr12:40768243..40769926-chr12:40782774..40784277,2	K562	blood:
15	chr12:40715339..40716976-chr12:40720060..40722353,2	MCF-7	breast:
16	chr12:40721972..40722829-chr4:110621913..110622453,2	MCF-7	breast:
17	12:40703633-40711447..12:40765226-40767074	GM12878	blood:
18	12:40716064-40722905..12:40793507-40812339	GM12878	blood:
19	chr12:40802843..40805068-chr12:40806902..40808859,2	K562	blood:
20	chr12:40803393..40806032-chr12:40844478..40846629,2	K562	blood:
21	chr12:40842998..40844668-chr12:40844905..40846558,2	K562	blood:
22	chr12:40718929..40719819-chr12:40768166..40769419,3	MCF-7	breast:
23	chr12:40802843..40805068-chr12:40806902..40808859,2	K562	blood:
24	chr12:40718929..40719819-chr12:40768166..40769419,3	MCF-7	breast:
25	chr12:40842998..40844668-chr12:40844905..40846558,2	K562	blood:
26	chr12:40715339..40716976-chr12:40720060..40722353,2	MCF-7	breast:
27	chr12:40730810..40731494-chr12:40768592..40769125,2	MCF-7	breast:
28	chr12:40803393..40806032-chr12:40844478..40846629,2	K562	blood:
29	chr12:40730810..40731494-chr12:40768592..40769125,2	MCF-7	breast:

(count:51 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40826180-40826264	NONHSAT027728
2	lnc-MUC19-1	chr12:40837068-40837262	NONHSAT027728
3	lnc-MUC19-1	chr12:40825428-40825520	NONHSAT027728
4	lnc-MUC19-1	chr12:40827566-40827715	NONHSAT027728
5	lnc-MUC19-1	chr12:40837879-40838118	NONHSAT027728
6	lnc-MUC19-1	chr12:40815906-40816003	NONHSAT027728
7	lnc-SLC2A13-3	chr12:40814022-40814118	XLOC_010054
8	lnc-SLC2A13-3	chr12:40810103-40810240	XLOC_010054
9	lnc-MUC19-1	chr12:40834376-40834428	NONHSAT027728
10	lnc-SLC2A13-3	chr12:40810105-40810240	XLOC_010054
11	lnc-SLC2A13-3	chr12:40789712-40789790	XLOC_010054
12	lnc-SLC2A13-3	chr12:40814022-40814113	XLOC_010054
13	lnc-MUC19-1	chr12:40831930-40832176	NONHSAT027728
14	lnc-SLC2A13-3	chr12:40837625-40837649	ENSG00000258167.1
15	lnc-SLC2A13-3	chr12:40814022-40814113	ENSG00000258167.1
16	lnc-MUC19-1	chr12:40830419-40830545	NONHSAT027728
17	lnc-SLC2A13-3	chr12:40834873-40834900	XLOC_010054
18	lnc-MUC19-1	chr12:40821772-40821895	NONHSAT027728
19	lnc-MUC19-1	chr12:40815642-40815702	NONHSAT027728
20	lnc-MUC19-1	chr12:40835674-40835812	NONHSAT027728
21	lnc-MUC19-1	chr12:40829899-40829993	NONHSAT027728
22	lnc-MUC19-1	chr12:40815015-40815125	NONHSAT027728
23	lnc-MUC19-1	chr12:40852533-40852571	NONHSAT027728
24	lnc-SLC2A13-3	chr12:40792362-40792466	ENSG00000258167.1
25	lnc-SLC2A13-3	chr12:40789655-40789788	ENSG00000258167.1
26	lnc-MUC19-1	chr12:40805835-40805984	NONHSAT027728
27	lnc-MUC19-1	chr12:40823344-40823479	NONHSAT027728
28	lnc-MUC19-1	chr12:40812976-40813035	NONHSAT027728
29	lnc-MUC19-1	chr12:40820209-40820419	NONHSAT027728
30	lnc-MUC19-1	chr12:40811932-40811982	NONHSAT027728
31	lnc-MUC19-1	chr12:40821176-40821298	NONHSAT027728
32	lnc-MUC19-1	chr12:40836878-40836982	NONHSAT027728
33	lnc-MUC19-1	chr12:40844063-40844095	NONHSAT027728
34	lnc-MUC19-1	chr12:40843491-40843532	NONHSAT027728
35	lnc-MUC19-1	chr12:40805409-40805429	NONHSAT027728
36	lnc-SLC2A13-3	chr12:40814022-40814118	XLOC_010054
37	lnc-MUC19-1	chr12:40841968-40841997	NONHSAT027728
38	lnc-MUC19-1	chr12:40854037-40854135	NONHSAT027728
39	lnc-MUC19-1	chr12:40787197-40787301	NONHSAT027728
40	lnc-MUC19-1	chr12:40844474-40844518	NONHSAT027728
41	lnc-MUC19-1	chr12:40838191-40838347	NONHSAT027728
42	lnc-SLC2A13-3	chr12:40810105-40810240	XLOC_010054
43	lnc-MUC19-1	chr12:40814009-40814237	NONHSAT027728
44	lnc-MUC19-1	chr12:40791681-40791713	NONHSAT027728
45	lnc-MUC19-1	chr12:40826429-40826566	NONHSAT027728
46	lnc-MUC19-1	chr12:40840290-40840431	NONHSAT027728
47	lnc-MUC19-1	chr12:40834863-40835014	NONHSAT027728
48	lnc-MUC19-1	chr12:40839321-40839446	NONHSAT027728
49	lnc-MUC19-1	chr12:40841127-40841158	NONHSAT027728
50	lnc-MUC19-1	chr12:40834526-40834626	NONHSAT027728

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LRRK2	hsa-miR-205-5p	chr12:40761670-40761690
2	LRRK2	hsa-miR-205-5p	chr12:40761683-40761690

Variant related genes	Relation type
ENSG00000258167	TF binding region
LRRK2	TF binding region
MUC19	TF binding region
ENSG00000258167	CpG island
LRRK2	CpG island
MUC19	CpG island
ENSG00000258167	chromatin interactions
ENSG00000205592	chromatin interactions
ENSG00000188906	chromatin interactions
MORF4L1	miRNA target sites
BLOC1S3	miRNA target sites
SEC23IP	miRNA target sites
SLC25A37	miRNA target sites
STXBP3	miRNA target sites

Extended variants
information (count: 4904 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:4904 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145753112	chr12:40704917-40704918	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565974156	chr12:40704958-40704959	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532913416	chr12:40705004-40705005	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373350120	chr12:40705059-40705060	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551209400	chr12:40705087-40705088	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550972531	chr12:40705109-40705110	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546201187	chr12:40705120-40705121	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534247869	chr12:40705138-40705139	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537180186	chr12:40705142-40705143	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs200759224	chr12:40705149-40705150	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555708368	chr12:40705151-40705152	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200642191	chr12:40705157-40705158	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2069228	chr12:40705158-40705159	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553346421	chr12:40705233-40705234	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs578262149	chr12:40705241-40705242	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138391446	chr12:40705270-40705271	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557624251	chr12:40705328-40705329	Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs17491145	chr12:40705467-40705468	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs17491152	chr12:40705473-40705474	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149263654	chr12:40705535-40705536	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148239268	chr12:40705555-40705556	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140224502	chr12:40705556-40705557	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543123419	chr12:40705574-40705575	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369413724	chr12:40705594-40705595	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35387566	chr12:40705668-40705669	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561838698	chr12:40705675-40705676	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528843630	chr12:40705687-40705688	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs10784503	chr12:40705700-40705701	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17466241	chr12:40705737-40705738	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559218348	chr12:40705738-40705739	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533097645	chr12:40705760-40705761	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs36111759	chr12:40705766-40705767	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs386376250	chr12:40705770-40705771	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs386376251	chr12:40705771-40705772	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs386376252	chr12:40705773-40705774	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs370305841	chr12:40705776-40705777	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551145550	chr12:40705814-40705815	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11564128	chr12:40705835-40705836	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555319225	chr12:40705850-40705851	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs77551417	chr12:40705853-40705854	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549173532	chr12:40705885-40705886	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs567756280	chr12:40705887-40705888	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370704294	chr12:40705916-40705917	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs575135162	chr12:40705946-40705947	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143499594	chr12:40705947-40705948	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs17520020	chr12:40706069-40706070	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192132657	chr12:40706083-40706084	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571957165	chr12:40706092-40706093	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567444596	chr12:40706113-40706114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7136481	chr12:40706114-40706115	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
2	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
3	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
4	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
6	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:40674400-40760400	Weak transcription	Lung	lung
8	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:40680400-40709000	Weak transcription	Ovary	ovary
10	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:40690400-40709200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:40692400-40711600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:40699600-40721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:40702400-40706800	Strong transcription	Primary B cells from cord blood	blood
20	chr12:40703600-40705600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:40704000-40705200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:40704200-40705000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:40704200-40705000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:40704200-40706800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:40704400-40709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:40704400-40723800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:40704600-40706400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:40704600-40708000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:40704800-40705800	Weak transcription	A549	lung
30	chr12:40704800-40709000	Weak transcription	Liver	Liver
31	chr12:40705000-40705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:40705200-40706800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:40705600-40722400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:40705800-40706800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:40705800-40707000	Enhancers	A549	lung
36	chr12:40706000-40706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:40706000-40706800	Enhancers	HMEC	breast
38	chr12:40706200-40706800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:40706200-40706800	Enhancers	NHEK	skin
40	chr12:40706400-40706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:40706400-40706600	Enhancers	Brain Substantia Nigra	brain
42	chr12:40706400-40706800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:40706800-40707000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:40706800-40707800	Weak transcription	Primary B cells from cord blood	blood
45	chr12:40706800-40709200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:40706800-40722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:40707000-40708200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:40707000-40719000	Weak transcription	A549	lung
49	chr12:40707200-40707600	Enhancers	GM12878-XiMat	blood
50	chr12:40707600-40708600	Flanking Active TSS	GM12878-XiMat	blood

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