Variant report

Variant	esv1826054
Chromosome Location	chr12:105505809-105568176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:105514381-105514669	K562	blood:	n/a	n/a
2	ARID3A	chr12:105514359-105514664	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:105563565-105563865	K562	blood:	n/a	n/a
4	ARID3A	chr12:105536945-105537002	K562	blood:	n/a	n/a
5	ATF1	chr12:105514453-105514652	K562	blood:	n/a	n/a
6	ATF1	chr12:105563849-105564049	K562	blood:	n/a	n/a
7	ATF3	chr12:105514326-105514712	K562	blood:	n/a	n/a
8	BACH1	chr12:105555203-105555238	K562	blood:	n/a	n/a
9	BACH1	chr12:105514438-105514649	K562	blood:	n/a	chr12:105514540-105514554
10	BRCA1	chr12:105511975-105511976	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:105537517-105537618	HepG2	liver:	n/a	chr12:105537556-105537569 chr12:105537556-105537567
12	CEBPB	chr12:105508075-105508315	IMR90	lung:	n/a	chr12:105508176-105508187
13	CEBPB	chr12:105560565-105560867	HepG2	liver:	n/a	chr12:105560732-105560743 chr12:105560697-105560708
14	CEBPB	chr12:105508043-105508474	HepG2	liver:	n/a	chr12:105508176-105508187
15	CEBPB	chr12:105508472-105508477	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr12:105560550-105560913	A549	lung:	n/a	chr12:105560732-105560743 chr12:105560697-105560708
17	CEBPB	chr12:105560521-105560906	IMR90	lung:	n/a	chr12:105560542-105560553 chr12:105560732-105560743 chr12:105560697-105560708
18	CEBPB	chr12:105560586-105560849	Hela-S3	cervix:	n/a	chr12:105560732-105560743 chr12:105560697-105560708
19	CEBPB	chr12:105560603-105560787	K562	blood:	n/a	chr12:105560732-105560743 chr12:105560697-105560708
20	CHD1	chr12:105507363-105507399	GM12878	blood:	n/a	n/a
21	CHD1	chr12:105560355-105560374	GM12878	blood:	n/a	n/a
22	CTCF	chr12:105522320-105522470	HCT-116	colon:	n/a	n/a
23	CTCF	chr12:105539896-105539908	K562	blood:	n/a	n/a
24	CUX1	chr12:105565609-105565869	K562	blood:	n/a	n/a
25	CUX1	chr12:105565017-105565184	K562	blood:	n/a	n/a
26	CUX1	chr12:105514315-105514773	K562	blood:	n/a	n/a
27	E2F4	chr12:105555742-105555874	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr12:105538137-105538337	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr12:105519359-105519795	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr12:105514426-105514738	K562	blood:	n/a	chr12:105514542-105514551 chr12:105514543-105514552
31	EP300	chr12:105536933-105537086	HepG2	liver:	n/a	n/a
32	EP300	chr12:105514361-105514575	HepG2	liver:	n/a	chr12:105514542-105514551 chr12:105514543-105514552
33	EP300	chr12:105563862-105563913	K562	blood:	n/a	n/a
34	EP300	chr12:105514270-105514701	HepG2	liver:	n/a	chr12:105514542-105514551 chr12:105514292-105514301 chr12:105514543-105514552
35	FAM48A	chr12:105511720-105511768	GM12878	blood:	n/a	n/a
36	FAM48A	chr12:105561594-105561625	GM12878	blood:	n/a	n/a
37	FOS	chr12:105514370-105514663	MCF10A-Er-Src	breast:	n/a	chr12:105514543-105514552 chr12:105514541-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514544-105514551
38	FOS	chr12:105560713-105560715	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:105514379-105514696	MCF10A-Er-Src	breast:	n/a	chr12:105514543-105514552 chr12:105514541-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514544-105514551
40	FOS	chr12:105514369-105514671	HUVEC	blood vessel:	n/a	chr12:105514543-105514552 chr12:105514541-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514544-105514551
41	FOS	chr12:105514366-105514710	MCF10A-Er-Src	breast:	n/a	chr12:105514543-105514552 chr12:105514541-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514544-105514551
42	FOS	chr12:105514397-105514718	MCF10A-Er-Src	breast:	n/a	chr12:105514543-105514552 chr12:105514541-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514544-105514551
43	FOSL2	chr12:105514355-105514665	HepG2	liver:	n/a	chr12:105514543-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514540-105514551 chr12:105514544-105514551
44	FOSL2	chr12:105514297-105514745	HepG2	liver:	n/a	chr12:105514543-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514540-105514551 chr12:105514544-105514551
45	FOSL2	chr12:105514249-105514829	A549	lung:	n/a	chr12:105514543-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514540-105514551 chr12:105514544-105514551
46	FOSL2	chr12:105514389-105514810	MCF-7	breast:	n/a	chr12:105514543-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514540-105514551 chr12:105514544-105514551
47	FOSL2	chr12:105514394-105514674	A549	lung:	n/a	chr12:105514543-105514552 chr12:105514542-105514551 chr12:105514543-105514551 chr12:105514540-105514551 chr12:105514544-105514551
48	FOXA1	chr12:105524397-105524809	HepG2	liver:	n/a	n/a
49	FOXA1	chr12:105524501-105524801	HepG2	liver:	n/a	n/a
50	FOXA1	chr12:105514233-105514623	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:105505776-105505826	HCT-116	colon:	n/a
2	chr12:105567515-105567565	SK-N-MC	brain:	n/a
3	chr12:105567515-105567565	NB4	blood:	n/a
4	chr12:105567515-105567565	IMR90	lung:	fetal
5	chr12:105505776-105505826	K562	blood:	n/a
6	chr12:105531460-105531510	SKMC	muscle:	n/a
7	chr12:105567515-105567565	HMEC	breast:	n/a
8	chr12:105531460-105531510	HL-60	blood:	n/a
9	chr12:105505776-105505826	PFSK-1	brain:	n/a
10	chr12:105567515-105567565	SK-N-SH_RA	brain:	n/a
11	chr12:105505776-105505826	BJ	skin:	n/a
12	chr12:105567515-105567565	HRCEpiC	kidney:	n/a
13	chr12:105531460-105531510	MCF-7	breast:	n/a
14	chr12:105507504-105507554	HAEpiC	amniotic membrane:	n/a
15	chr12:105531460-105531510	SAEC	small airway:	n/a
16	chr12:105531460-105531510	HCM	heart:	n/a
17	chr12:105531460-105531510	AG09319	gingival:	n/a
18	chr12:105531460-105531510	K562	blood:	n/a
19	chr12:105531460-105531510	Hepatocyte	liver:	n/a
20	chr12:105567515-105567565	HUVEC	blood vessel:	n/a
21	chr12:105567515-105567565	HCT-116	colon:	n/a
22	chr12:105505776-105505826	LNCaP	prostate:	n/a
23	chr12:105507504-105507554	Jurkat	blood:	n/a
24	chr12:105505776-105505826	PrEC	prostate:	n/a
25	chr12:105531460-105531510	RPTEC	kidney:	n/a
26	chr12:105531460-105531510	AG10803	skin:	n/a
27	chr12:105531460-105531510	NB4	blood:	n/a
28	chr12:105567515-105567565	CMK	blood:	n/a
29	chr12:105505776-105505826	GM12878	blood:	n/a
30	chr12:105567515-105567565	HPAEpiC	pulmonary alveolar:	n/a
31	chr12:105567515-105567565	GM12891	blood:	n/a
32	chr12:105505776-105505826	AG04450	lung:	fetal
33	chr12:105507504-105507554	HNPCEpiC	eye:	n/a
34	chr12:105505776-105505826	AG09319	gingival:	n/a
35	chr12:105567515-105567565	T-47D	breast:	n/a
36	chr12:105505776-105505826	NT2-D1	testis:	n/a
37	chr12:105531460-105531510	AG09309	skin:	n/a
38	chr12:105505776-105505826	SK-N-SH	brain:	n/a
39	chr12:105505776-105505826	GM06990	blood:	n/a
40	chr12:105507504-105507554	K562	blood:	n/a
41	chr12:105505776-105505826	HL-60	blood:	n/a
42	chr12:105505776-105505826	SAEC	small airway:	n/a
43	chr12:105567515-105567565	A549	lung:	n/a
44	chr12:105505776-105505826	AG09309	skin:	n/a
45	chr12:105567515-105567565	HCPEpiC	choroid plexus:	n/a
46	chr12:105507504-105507554	HRE	kidney:	n/a
47	chr12:105567515-105567565	SK-N-SH	brain:	n/a
48	chr12:105531460-105531510	NHBE	bronchial:	n/a
49	chr12:105507504-105507554	HL-60	blood:	n/a
50	chr12:105567515-105567565	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105564992..105569001-chr12:105627432..105630831,3	K562	blood:
2	chr12:105561858..105564430-chr12:105566394..105568503,2	MCF-7	breast:
3	chr12:105526996..105528729-chr12:105529355..105531311,2	K562	blood:
4	chr12:105508775..105512282-chr12:105513307..105515805,3	MCF-7	breast:
5	chr12:105542946..105545712-chr12:105628511..105631314,2	MCF-7	breast:
6	chr12:105520645..105521436-chr12:105528902..105529458,2	MCF-7	breast:
7	chr12:105557729..105562363-chr12:105563109..105566794,6	K562	blood:
8	chr12:105530759..105533680-chr12:105536719..105539215,3	K562	blood:
9	chr12:105502740..105505259-chr12:105518776..105521182,3	K562	blood:
10	chr12:105501163..105503501-chr12:105514761..105516343,2	MCF-7	breast:
11	chr12:105508775..105512282-chr12:105513307..105515805,3	MCF-7	breast:
12	chr12:105557729..105562363-chr12:105563109..105566794,6	K562	blood:
13	chr12:105539501..105541857-chr12:105542488..105545079,2	K562	blood:
14	chr12:105520645..105521436-chr12:105528902..105529458,2	MCF-7	breast:
15	chr12:105502302..105504240-chr12:105518371..105521182,2	K562	blood:
16	chr12:105508971..105510510-chr12:105512045..105514800,2	K562	blood:
17	chr12:105517574..105520454-chr12:105529893..105532329,2	K562	blood:
18	chr12:105546702..105548786-chr12:105550881..105552428,2	K562	blood:
19	chr12:105523431..105527512-chr12:105529193..105532336,3	MCF-7	breast:
20	chr12:105529161..105531125-chr12:105630136..105632646,2	K562	blood:
21	chr12:105558828..105561885-chr12:105562217..105566116,3	MCF-7	breast:
22	chr12:105559645..105562741-chr12:105564536..105567836,4	K562	blood:
23	chr12:105516186..105519030-chr12:105520787..105522474,2	K562	blood:
24	chr12:105534493..105537599-chr12:105538790..105541931,3	K562	blood:
25	chr12:105507638..105509835-chr12:105526539..105528222,2	K562	blood:
26	chr12:105561858..105564430-chr12:105566394..105568503,2	MCF-7	breast:
27	chr12:105533571..105536519-chr12:105568593..105570775,2	K562	blood:
28	chr12:105558800..105560574-chr12:105563274..105565679,2	MCF-7	breast:
29	chr12:105546702..105548786-chr12:105550881..105552428,2	K562	blood:
30	chr12:105500061..105501858-chr12:105520145..105522733,2	K562	blood:
31	chr12:105562609..105564624-chr12:105567516..105570192,2	K562	blood:
32	chr12:105558828..105561885-chr12:105562217..105566116,3	MCF-7	breast:
33	chr12:105508971..105510510-chr12:105512045..105514800,2	K562	blood:
34	chr12:105506299..105509664-chr12:105519012..105521246,3	MCF-7	breast:
35	chr12:105526996..105528729-chr12:105529355..105531311,2	K562	blood:
36	chr12:105500409..105502947-chr12:105543517..105545714,2	MCF-7	breast:
37	chr12:105523431..105527512-chr12:105529193..105532336,3	MCF-7	breast:
38	chr12:105532349..105534370-chr12:105534531..105536816,2	K562	blood:
39	chr12:105558800..105560574-chr12:105563274..105565679,2	MCF-7	breast:
40	chr12:105505719..105508671-chr12:105627315..105629820,2	MCF-7	breast:
41	chr12:105516186..105519030-chr12:105520787..105522474,2	K562	blood:
42	chr12:105520638..105523143-chr12:105531748..105534535,2	K562	blood:
43	chr12:105534493..105537599-chr12:105538790..105541931,3	K562	blood:
44	chr12:105507638..105509835-chr12:105526539..105528222,2	K562	blood:
45	chr12:105517574..105520454-chr12:105529893..105532329,2	K562	blood:
46	chr12:105532349..105534370-chr12:105534531..105536816,2	K562	blood:
47	chr12:105506299..105509664-chr12:105519012..105521246,3	MCF-7	breast:
48	chr12:105520638..105523143-chr12:105531748..105534535,2	K562	blood:
49	chr12:105559645..105562741-chr12:105564536..105567836,4	K562	blood:
50	chr12:105564104..105568210-chr12:105569076..105573485,6	MCF-7	breast:

Variant related genes	Relation type
KIAA1033	TF binding region
ENSG00000257999	TF binding region
KIAA1033	CpG island
ENSG00000257999	CpG island
ENSG00000257999	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000235162	chromatin interactions

Extended variants
information (count: 2420 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2420 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1201658	chr12:105505809-105505810	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536036770	chr12:105505814-105505815	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76114193	chr12:105505837-105505838	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77034378	chr12:105505841-105505842	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs36006666	chr12:105505863-105505864	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs202218028	chr12:105505865-105505866	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534796405	chr12:105505898-105505899	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558104223	chr12:105505929-105505930	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12581968	chr12:105505947-105505948	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572569412	chr12:105505966-105505967	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146255323	chr12:105505967-105505968	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139301450	chr12:105505979-105505980	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557348242	chr12:105505994-105505995	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574430286	chr12:105506049-105506050	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144164478	chr12:105506077-105506078	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs3910855	chr12:105506092-105506093	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79831026	chr12:105506110-105506111	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544793508	chr12:105506155-105506156	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565027918	chr12:105506171-105506172	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143855041	chr12:105506230-105506231	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183271232	chr12:105506288-105506289	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550601189	chr12:105506299-105506300	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560841187	chr12:105506306-105506307	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187208034	chr12:105506318-105506319	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529948269	chr12:105506327-105506328	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546343454	chr12:105506397-105506398	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73395744	chr12:105506467-105506468	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534759055	chr12:105506508-105506509	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576886601	chr12:105506538-105506539	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376292383	chr12:105506575-105506576	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571741818	chr12:105506592-105506593	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537046367	chr12:105506634-105506635	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558423661	chr12:105506636-105506637	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192082419	chr12:105506643-105506644	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183588686	chr12:105506717-105506718	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148512735	chr12:105506791-105506792	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553573596	chr12:105506842-105506843	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573462380	chr12:105506844-105506845	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142770771	chr12:105506846-105506847	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75049625	chr12:105506860-105506861	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537757933	chr12:105506880-105506881	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs151064537	chr12:105506932-105506933	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188192182	chr12:105506942-105506943	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543820497	chr12:105506973-105506974	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560555654	chr12:105507004-105507005	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140967933	chr12:105507038-105507039	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73395745	chr12:105507127-105507128	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs80124346	chr12:105507205-105507206	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532186365	chr12:105507213-105507214	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552395301	chr12:105507236-105507237	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
3	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
4	chr12:105503800-105506200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:105503800-105506400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:105503800-105507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:105503800-105508400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:105503800-105509200	Weak transcription	Colonic Mucosa	Colon
9	chr12:105503800-105509400	Weak transcription	HSMMtube	muscle
10	chr12:105503800-105511600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105503800-105511800	Weak transcription	Left Ventricle	heart
12	chr12:105503800-105512400	Weak transcription	Lung	lung
13	chr12:105503800-105512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:105503800-105512800	Weak transcription	Fetal Stomach	stomach
15	chr12:105503800-105512800	Weak transcription	Pancreas	Pancrea
16	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:105503800-105516600	Weak transcription	Gastric	stomach
18	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
19	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart
20	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
21	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
22	chr12:105504000-105506200	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:105504000-105506600	Enhancers	Fetal Intestine Small	intestine
24	chr12:105504000-105507200	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr12:105504000-105507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:105504000-105507600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:105504000-105507800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:105504000-105509400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:105504000-105510000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:105504000-105510600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:105504000-105511600	Weak transcription	Ovary	ovary
32	chr12:105504000-105511800	Weak transcription	Brain Germinal Matrix	brain
33	chr12:105504000-105512400	Weak transcription	Thymus	Thymus
34	chr12:105504000-105516600	Weak transcription	Psoas Muscle	Psoas
35	chr12:105504000-105517000	Weak transcription	Small Intestine	intestine
36	chr12:105504200-105506200	Weak transcription	Brain Anterior Caudate	brain
37	chr12:105504200-105506400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:105504200-105509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:105504200-105509800	Weak transcription	Fetal Brain Female	brain
40	chr12:105504400-105508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:105504400-105508400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:105504400-105509800	Weak transcription	Fetal Brain Male	brain
43	chr12:105504600-105507200	Genic enhancers	Primary B cells from cord blood	blood
44	chr12:105504600-105507600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:105504600-105509800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:105504800-105509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:105505000-105506000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:105505000-105507000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:105505000-105507000	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:105505000-105507400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links