Variant report

Variant	esv2763006
Chromosome Location	chr12:120731346-120750746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:803)
CpG islands
(count:793)
Chromatin interactive
region (count:124)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120730499-120731658	K562	blood:	n/a	n/a
2	ARID3A	chr12:120739839-120740366	K562	blood:	n/a	n/a
3	ARID3A	chr12:120730653-120731613	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:120739782-120740559	HepG2	liver:	n/a	n/a
5	ATF1	chr12:120735053-120735248	K562	blood:	n/a	n/a
6	ATF1	chr12:120739890-120740328	K562	blood:	n/a	n/a
7	ATF2	chr12:120728999-120731446	H1-hESC	embryonic stem cell:	n/a	chr12:120729939-120729950 chr12:120729937-120729951
8	ATF2	chr12:120730449-120731456	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:120728959-120731503	GM12878	blood:	n/a	chr12:120729939-120729950 chr12:120729937-120729951
10	ATF2	chr12:120730243-120731462	GM12878	blood:	n/a	n/a
11	ATF3	chr12:120739934-120740202	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr12:120739753-120740553	A549	lung:	n/a	n/a
13	ATF3	chr12:120730215-120731403	A549	lung:	n/a	n/a
14	ATF3	chr12:120739852-120740363	A549	lung:	n/a	n/a
15	BACH1	chr12:120740191-120740400	K562	blood:	n/a	n/a
16	BACH1	chr12:120739966-120740474	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr12:120739827-120740591	A549	lung:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
18	BCL3	chr12:120730241-120731458	A549	lung:	n/a	n/a
19	BCL3	chr12:120739841-120740614	A549	lung:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
20	BCL3	chr12:120728374-120731464	A549	lung:	n/a	chr12:120729417-120729426
21	BCLAF1	chr12:120739798-120740489	GM12878	blood:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
22	BCLAF1	chr12:120728884-120731349	GM12878	blood:	n/a	chr12:120729417-120729426
23	BCLAF1	chr12:120730269-120731416	K562	blood:	n/a	n/a
24	BCLAF1	chr12:120728715-120731418	K562	blood:	n/a	chr12:120729417-120729426
25	BHLHE40	chr12:120740214-120740500	HepG2	liver:	n/a	n/a
26	BHLHE40	chr12:120739882-120740676	GM12878	blood:	n/a	n/a
27	BHLHE40	chr12:120739894-120740574	K562	blood:	n/a	n/a
28	BHLHE40	chr12:120739993-120740671	A549	lung:	n/a	n/a
29	BHLHE40	chr12:120739923-120740569	HepG2	liver:	n/a	n/a
30	BRCA1	chr12:120730506-120731485	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr12:120739886-120740435	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr12:120739840-120740473	K562	blood:	n/a	n/a
33	CBX3	chr12:120729013-120731465	HCT-116	colon:	n/a	chr12:120729551-120729562
34	CEBPB	chr12:120734882-120735086	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr12:120730439-120731513	HCT-116	colon:	n/a	n/a
36	CEBPB	chr12:120730422-120731524	K562	blood:	n/a	n/a
37	CEBPB	chr12:120728321-120731645	K562	blood:	n/a	chr12:120728481-120728492
38	CEBPB	chr12:120730622-120731645	IMR90	lung:	n/a	n/a
39	CEBPB	chr12:120730395-120731708	A549	lung:	n/a	n/a
40	CEBPB	chr12:120730665-120731596	MCF-7	breast:	n/a	n/a
41	CEBPB	chr12:120734881-120735082	K562	blood:	n/a	n/a
42	CEBPB	chr12:120739927-120740274	K562	blood:	n/a	n/a
43	CEBPB	chr12:120734882-120735085	IMR90	lung:	n/a	n/a
44	CEBPB	chr12:120739898-120740433	A549	lung:	n/a	n/a
45	CEBPB	chr12:120730260-120731369	GM12878	blood:	n/a	n/a
46	CEBPB	chr12:120739960-120740137	HepG2	liver:	n/a	n/a
47	CEBPB	chr12:120739964-120740272	HepG2	liver:	n/a	n/a
48	CEBPB	chr12:120745617-120745774	IMR90	lung:	n/a	chr12:120745723-120745734 chr12:120745722-120745733
49	CEBPB	chr12:120745636-120745836	K562	blood:	n/a	chr12:120745723-120745734 chr12:120745722-120745733
50	CEBPB	chr12:120728336-120731650	Hela-S3	cervix:	n/a	chr12:120728481-120728492

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120740337-120740387	NHDF-neo	bronchial:	n/a
2	chr12:120740050-120740100	SKMC	muscle:	n/a
3	chr12:120741614-120741664	NHDF-neo	bronchial:	n/a
4	chr12:120741565-120741615	SAEC	small airway:	n/a
5	chr12:120739324-120739374	HepG2	liver:	n/a
6	chr12:120741653-120741703	H1-hESC	embryonic stem cell:	embryo
7	chr12:120739679-120739729	HRE	kidney:	n/a
8	chr12:120740453-120740503	NH-A	brain:	n/a
9	chr12:120740020-120740070	H1-hESC	embryonic stem cell:	embryo
10	chr12:120740337-120740387	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:120740010-120740060	HRCEpiC	kidney:	n/a
12	chr12:120740010-120740060	NHBE	bronchial:	n/a
13	chr12:120739679-120739729	HIPEpiC	eye:	n/a
14	chr12:120741653-120741703	HCF	heart:	n/a
15	chr12:120740050-120740100	GM19239	blood:	n/a
16	chr12:120750311-120750361	HCF	heart:	n/a
17	chr12:120740020-120740070	U87	brain:	n/a
18	chr12:120741565-120741615	HepG2	liver:	n/a
19	chr12:120740337-120740387	BE2_C	brain:	n/a
20	chr12:120750311-120750361	Hela-S3	cervix:	n/a
21	chr12:120741653-120741703	Caco-2	colon:	n/a
22	chr12:120741565-120741615	A549	lung:	n/a
23	chr12:120739324-120739374	IMR90	lung:	fetal
24	chr12:120740453-120740503	GM06990	blood:	n/a
25	chr12:120740057-120740107	ECC-1	luminal epithelium:	n/a
26	chr12:120740010-120740060	AG04449	skin:	fetal
27	chr12:120740020-120740070	HEEpiC	esophagus:	n/a
28	chr12:120740020-120740070	SK-N-SH_RA	brain:	n/a
29	chr12:120740337-120740387	HAEpiC	amniotic membrane:	n/a
30	chr12:120740057-120740107	GM12891	blood:	n/a
31	chr12:120740055-120740105	SK-N-MC	brain:	n/a
32	chr12:120750311-120750361	SAEC	small airway:	n/a
33	chr12:120740010-120740060	K562	blood:	n/a
34	chr12:120740057-120740107	NT2-D1	testis:	n/a
35	chr12:120740020-120740070	Caco-2	colon:	n/a
36	chr12:120740050-120740100	AG04450	lung:	fetal
37	chr12:120740020-120740070	NHDF-neo	bronchial:	n/a
38	chr12:120740057-120740107	T-47D	breast:	n/a
39	chr12:120741614-120741664	PANC-1	pancreas:	n/a
40	chr12:120740057-120740107	HAEpiC	amniotic membrane:	n/a
41	chr12:120740057-120740107	AG09319	gingival:	n/a
42	chr12:120750311-120750361	MCF-7	breast:	n/a
43	chr12:120741653-120741703	MCF10A-Er-Src	breast:	n/a
44	chr12:120740010-120740060	T-47D	breast:	n/a
45	chr12:120740050-120740100	HRE	kidney:	n/a
46	chr12:120750311-120750361	U87	brain:	n/a
47	chr12:120750311-120750361	NB4	blood:	n/a
48	chr12:120741614-120741664	MCF10A-Er-Src	breast:	n/a
49	chr12:120739679-120739729	IMR90	lung:	fetal
50	chr12:120740337-120740387	PrEC	prostate:	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:120729489..120731443-chr16:30087252..30089319,2	MCF-7	breast:
2	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
3	chr12:120740153..120743437-chr12:120746658..120748333,3	K562	blood:
4	chr12:120733219..120735445-chr12:120753704..120755602,2	K562	blood:
5	chr12:120730544..120731623-chrX:153626419..153627097,3	Hela-S3	cervix:
6	chr12:120729609..120731895-chr19:54605213..54606935,2	MCF-7	breast:
7	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:
8	chr12:39835813..39837314-chr12:120729486..120732278,2	MCF-7	breast:
9	chr12:120729375..120731716-chr12:121159185..121161541,3	K562	blood:
10	chr12:118814110..118815934-chr12:120730037..120732286,2	MCF-7	breast:
11	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
12	chr12:120729038..120732035-chr12:120899185..120901880,2	MCF-7	breast:
13	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:
14	chr12:120729899..120731617-chr7:156432484..156434747,2	MCF-7	breast:
15	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
16	chr12:120730583..120731458-chr17:79633579..79634294,2	Hela-S3	cervix:
17	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
18	chr12:120729518..120732043-chr3:101568361..101570106,2	K562	blood:
19	chr1:44508536..44511215-chr12:120729558..120732284,2	MCF-7	breast:
20	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
21	chr12:120729699..120731594-chr8:103249371..103251241,2	MCF-7	breast:
22	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
23	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
24	chr12:120515699..120519633-chr12:120727984..120732928,6	MCF-7	breast:
25	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
26	chr12:120729536..120731633-chr17:57784073..57785981,2	MCF-7	breast:
27	chr12:120743871..120747670-chr12:120748834..120750916,3	MCF-7	breast:
28	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
29	chr12:120743871..120747670-chr12:120748834..120750916,3	MCF-7	breast:
30	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
31	chr11:93472782..93475284-chr12:120730109..120732929,2	MCF-7	breast:
32	chr12:120729633..120731424-chr3:73159961..73161523,2	MCF-7	breast:
33	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
34	chr12:120730813..120731447-chr5:179921399..179922129,2	Hela-S3	cervix:
35	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
36	chr12:120729209..120731364-chr8:145751583..145753528,2	MCF-7	breast:
37	chr12:120731520..120734276-chr17:57914284..57916496,2	MCF-7	breast:
38	chr1:16839434..16842032-chr12:120728753..120731568,4	MCF-7	breast:
39	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
40	chr12:120740147..120741749-chr12:120742037..120744644,2	K562	blood:
41	chr12:120727844..120731559-chr17:57922728..57926313,6	MCF-7	breast:
42	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
43	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
44	chr12:120729544..120731388-chr14:20936431..20938266,2	MCF-7	breast:
45	chr12:120739185..120741546-chr12:120749401..120751491,2	K562	blood:
46	chr12:120729296..120732108-chr20:55839682..55842744,3	MCF-7	breast:
47	chr12:120729642..120731644-chr12:120743079..120744691,3	K562	blood:
48	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
49	chr12:120729387..120731467-chr6:13710748..13713061,2	MCF-7	breast:
50	chr12:120729741..120733145-chr17:56707476..56710505,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-2	chr12:120739773-120739999	expReg_chr12_11414_+

No data

Variant related genes	Relation type
RNU4-1	TF binding region
SIRT4	TF binding region
RNU4-2	TF binding region
RNU4-1	CpG island
SIRT4	CpG island
RNU4-2	CpG island
ENSG00000062716	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000170906	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000180694	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000258056	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000105982	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000170909	chromatin interactions
ENSG00000157837	chromatin interactions
ENSG00000230615	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000141378	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000149923	chromatin interactions
ENSG00000135097	chromatin interactions
ENSG00000252659	chromatin interactions
ENSG00000244291	chromatin interactions
ENSG00000170890	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000213741	chromatin interactions
ENSG00000115970	chromatin interactions
ENSG00000204237	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000089163	chromatin interactions
ENSG00000158486	chromatin interactions
ENSG00000204070	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000253459	chromatin interactions
ENSG00000185298	chromatin interactions
ENSG00000010017	chromatin interactions
ENSG00000240925	chromatin interactions
ENSG00000139116	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000182648	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000163811	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000256569	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000008513	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000254402	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000113300	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000166477	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000265455	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000272160	chromatin interactions
ENSG00000197763	chromatin interactions
ENSG00000135404	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000165501	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000239881	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000254806	chromatin interactions

Extended variants
information (count: 851 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565102291	chr12:120731372-120731373	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	88 gene(s)	Overlapped CNVs	n/a
2	rs527368245	chr12:120731401-120731402	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
3	rs547092080	chr12:120731411-120731412	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
4	rs567063771	chr12:120731446-120731447	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
5	rs537028640	chr12:120731538-120731539	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	72 gene(s)	Overlapped CNVs	n/a
6	rs372337069	chr12:120731578-120731579	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	68 gene(s)	Overlapped CNVs	n/a
7	rs374383753	chr12:120731586-120731587	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	68 gene(s)	Overlapped CNVs	n/a
8	rs569435745	chr12:120731607-120731608	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
9	rs138340289	chr12:120731636-120731637	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
10	rs558044490	chr12:120731638-120731639	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
11	rs10535497	chr12:120731656-120731657	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
12	rs397698808	chr12:120731657-120731658	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
13	rs572472384	chr12:120731666-120731667	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
14	rs190440266	chr12:120731720-120731721	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
15	rs571817560	chr12:120731756-120731757	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
16	rs533993586	chr12:120731777-120731778	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
17	rs554295531	chr12:120731795-120731796	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
18	rs71076604	chr12:120731822-120731823	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
19	rs371991956	chr12:120731823-120731824	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
20	rs374984600	chr12:120731825-120731826	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
21	rs367669219	chr12:120731826-120731827	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
22	rs574230220	chr12:120731837-120731838	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
23	rs543019259	chr12:120731849-120731850	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
24	rs573624405	chr12:120731880-120731881	Weak transcription Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
25	rs536345790	chr12:120731905-120731906	Weak transcription Enhancers	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
26	rs552849876	chr12:120731909-120731910	Weak transcription Enhancers	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
27	rs556628195	chr12:120731924-120731925	Weak transcription Enhancers	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
28	rs182517240	chr12:120731963-120731964	Weak transcription Enhancers	TF binding region Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
29	rs531178316	chr12:120731966-120731967	Weak transcription Enhancers	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
30	rs545309706	chr12:120732052-120732053	Weak transcription Enhancers	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
31	rs564883822	chr12:120732053-120732054	Weak transcription Enhancers	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
32	rs200525811	chr12:120732113-120732114	Weak transcription Enhancers	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
33	rs527472659	chr12:120732145-120732146	Weak transcription Enhancers	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
34	rs149207043	chr12:120732163-120732164	Weak transcription Enhancers	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
35	rs560630143	chr12:120732179-120732180	Weak transcription Enhancers	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
36	rs375702996	chr12:120732198-120732199	Weak transcription Enhancers	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
37	rs542627151	chr12:120732219-120732220	Weak transcription Enhancers	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
38	rs569657540	chr12:120732235-120732236	Weak transcription Enhancers	Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
39	rs7972914	chr12:120732246-120732247	Weak transcription Enhancers	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
40	rs552063286	chr12:120732265-120732266	Weak transcription Enhancers	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
41	rs148923421	chr12:120732334-120732335	Weak transcription Enhancers	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs564823767	chr12:120732339-120732340	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
43	rs138986117	chr12:120732349-120732350	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
44	rs548036727	chr12:120732380-120732381	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
45	rs373459794	chr12:120732383-120732384	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
46	rs536758731	chr12:120732394-120732395	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
47	rs556567456	chr12:120732413-120732414	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs187627989	chr12:120732482-120732483	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
49	rs538515830	chr12:120732553-120732554	Weak transcription Enhancers	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
50	rs533367198	chr12:120732632-120732633	Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
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
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120728400-120731400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:120728400-120731400	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:120728600-120731400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:120728600-120731400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:120728600-120731400	Active TSS	Colonic Mucosa	Colon
6	chr12:120728600-120731400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr12:120728600-120731400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:120728600-120731600	Active TSS	Brain Substantia Nigra	brain
9	chr12:120728800-120731600	Active TSS	Psoas Muscle	Psoas
10	chr12:120729000-120731400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:120729000-120731400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:120729000-120731400	Flanking Active TSS	Fetal Thymus	thymus
13	chr12:120729000-120731600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:120729000-120731600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:120729000-120731800	Active TSS	A549	lung
16	chr12:120729200-120731400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:120729200-120731400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:120729200-120731400	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:120729200-120731400	Active TSS	Fetal Muscle Trunk	muscle
20	chr12:120729400-120731400	Active TSS	Brain Anterior Caudate	brain
21	chr12:120729400-120731400	Active TSS	Fetal Lung	lung
22	chr12:120729400-120731400	Active TSS	Fetal Muscle Leg	muscle
23	chr12:120729400-120731400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:120729600-120731400	Active TSS	NHLF	lung
25	chr12:120729800-120731400	Active TSS	Placenta	Placenta
26	chr12:120729800-120731400	Active TSS	NHDF-Ad	bronchial
27	chr12:120729800-120731600	Flanking Active TSS	Dnd41	blood
28	chr12:120730000-120731400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:120730000-120731400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:120730200-120731400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:120730400-120731600	Flanking Active TSS	Hela-S3	cervix
32	chr12:120730600-120731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120730600-120731600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:120730800-120731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:120730800-120731400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:120730800-120731400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr12:120730800-120731400	Active TSS	Fetal Brain Female	brain
38	chr12:120730800-120731400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:120730800-120731400	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:120730800-120731600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:120730800-120731600	Active TSS	Brain Germinal Matrix	brain
42	chr12:120730800-120731600	Active TSS	Fetal Brain Male	brain
43	chr12:120730800-120731600	Enhancers	Stomach Mucosa	stomach
44	chr12:120731000-120731400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:120731000-120731400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:120731000-120731400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:120731000-120731400	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:120731000-120731400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:120731000-120731400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:120731000-120731400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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