Variant report

Variant	esv3437066
Chromosome Location	chr12:124455824-124458572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:736)
CpG islands
(count:610)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124457436-124457478	K562	blood:	n/a	n/a
2	ARID3A	chr12:124456201-124456464	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:124457266-124457559	HepG2	liver:	n/a	n/a
4	ATF2	chr12:124456208-124456743	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:124456182-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr12:124457636-124457891	K562	blood:	n/a	n/a
7	BACH1	chr12:124458481-124458670	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr12:124456382-124456621	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr12:124457128-124457530	GM12878	blood:	n/a	chr12:124457392-124457401 chr12:124457453-124457466 chr12:124457384-124457397
10	BHLHE40	chr12:124457321-124457936	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:124457328-124457920	K562	blood:	n/a	n/a
12	BHLHE40	chr12:124457751-124457861	A549	lung:	n/a	n/a
13	BHLHE40	chr12:124457342-124457972	HepG2	liver:	n/a	n/a
14	BHLHE40	chr12:124458549-124458726	K562	blood:	n/a	chr12:124458574-124458590
15	BRCA1	chr12:124457325-124457396	HepG2	liver:	n/a	n/a
16	BRCA1	chr12:124457402-124457544	Hela-S3	cervix:	n/a	n/a
17	CCNT2	chr12:124456410-124458750	K562	blood:	n/a	chr12:124457953-124457962 chr12:124457619-124457628
18	CEBPB	chr12:124457282-124457522	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr12:124457154-124457926	HepG2	liver:	n/a	n/a
20	CEBPD	chr12:124456930-124458037	HepG2	liver:	n/a	n/a
21	CHD1	chr12:124458249-124458876	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr12:124457754-124457774	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr12:124457386-124457586	K562	blood:	n/a	chr12:124457570-124457580
24	CHD2	chr12:124457534-124457539	HepG2	liver:	n/a	n/a
25	CHD2	chr12:124458429-124458582	GM12878	blood:	n/a	n/a
26	CHD2	chr12:124458489-124458750	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr12:124457264-124457855	GM12878	blood:	n/a	chr12:124457570-124457580
28	CHD2	chr12:124456875-124458256	Hela-S3	cervix:	n/a	chr12:124457570-124457580
29	CREB1	chr12:124456334-124456664	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr12:124456839-124457955	A549	lung:	n/a	n/a
31	CREB1	chr12:124456892-124458105	HepG2	liver:	n/a	n/a
32	CREB1	chr12:124456254-124456651	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTBP2	chr12:124456277-124456852	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr12:124458500-124458650	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr12:124458551-124458605	NHEK	skin:	n/a	n/a
36	CTCF	chr12:124458530-124458603	GM19238	blood:	n/a	n/a
37	CTCF	chr12:124457340-124457490	HVMF	connective:	n/a	chr12:124457429-124457445
38	CTCF	chr12:124457380-124457530	AG09319	gingival:	n/a	chr12:124457429-124457445
39	CTCF	chr12:124457357-124457541	A549	lung:	n/a	chr12:124457429-124457445
40	CTCF	chr12:124457239-124457616	H1-hESC	embryonic stem cell:	n/a	chr12:124457429-124457445
41	CTCF	chr12:124457360-124457510	K562	blood:	n/a	chr12:124457429-124457445
42	CTCF	chr12:124458420-124458570	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr12:124457380-124457530	HEK293	kidney:	n/a	chr12:124457429-124457445
44	CTCF	chr12:124457383-124457547	Kidney_OC	kidney:	n/a	chr12:124457429-124457445
45	CTCF	chr12:124458500-124458650	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr12:124457362-124457555	Fibrobl	skin:	n/a	chr12:124457429-124457445
47	CTCF	chr12:124457360-124457510	HCPEpiC	choroid plexus:	n/a	chr12:124457429-124457445
48	CTCF	chr12:124457360-124457510	NHEK	skin:	n/a	chr12:124457429-124457445
49	CTCF	chr12:124457353-124457539	MCF-7	breast:	n/a	chr12:124457429-124457445
50	CTCF	chr12:124457347-124457350	H1-hESC	embryonic stem cell:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124457941-124457991	HCPEpiC	choroid plexus:	n/a
2	chr12:124457083-124457133	HRE	kidney:	n/a
3	chr12:124457418-124457468	ovcar-3	ovarian:	n/a
4	chr12:124457418-124457468	NB4	blood:	n/a
5	chr12:124456591-124456641	PrEC	prostate:	n/a
6	chr12:124457431-124457481	NHDF-neo	bronchial:	n/a
7	chr12:124457418-124457468	H1-hESC	embryonic stem cell:	embryo
8	chr12:124458211-124458261	SK-N-SH	brain:	n/a
9	chr12:124456591-124456641	AG09319	gingival:	n/a
10	chr12:124457083-124457133	SKMC	muscle:	n/a
11	chr12:124456591-124456641	HCT-116	colon:	n/a
12	chr12:124458211-124458261	AG09319	gingival:	n/a
13	chr12:124458211-124458261	HRPEpiC	eye:	n/a
14	chr12:124457941-124457991	MCF10A-Er-Src	breast:	n/a
15	chr12:124456542-124456592	HEK293	kidney:	embryo
16	chr12:124457669-124457719	ProgFib	skin:	n/a
17	chr12:124457669-124457719	Jurkat	blood:	n/a
18	chr12:124457083-124457133	AG10803	skin:	n/a
19	chr12:124457083-124457133	HPAEpiC	pulmonary alveolar:	n/a
20	chr12:124457418-124457468	SK-N-MC	brain:	n/a
21	chr12:124457669-124457719	NH-A	brain:	n/a
22	chr12:124457418-124457468	Jurkat	blood:	n/a
23	chr12:124457083-124457133	AG09309	skin:	n/a
24	chr12:124456591-124456641	SAEC	small airway:	n/a
25	chr12:124457431-124457481	AG04450	lung:	fetal
26	chr12:124456591-124456641	AG04449	skin:	fetal
27	chr12:124457418-124457468	LNCaP	prostate:	n/a
28	chr12:124457941-124457991	GM12891	blood:	n/a
29	chr12:124458442-124458492	HCM	heart:	n/a
30	chr12:124457083-124457133	HCT-116	colon:	n/a
31	chr12:124456164-124456214	AG09309	skin:	n/a
32	chr12:124458442-124458492	Hela-S3	cervix:	n/a
33	chr12:124458442-124458492	A549	lung:	n/a
34	chr12:124457083-124457133	AG04449	skin:	fetal
35	chr12:124457941-124457991	ProgFib	skin:	n/a
36	chr12:124456164-124456214	HCM	heart:	n/a
37	chr12:124456542-124456592	Hepatocyte	liver:	n/a
38	chr12:124457669-124457719	NHDF-neo	bronchial:	n/a
39	chr12:124458442-124458492	GM12891	blood:	n/a
40	chr12:124456591-124456641	NT2-D1	testis:	n/a
41	chr12:124456591-124456641	HEK293	kidney:	embryo
42	chr12:124456164-124456214	AG04449	skin:	fetal
43	chr12:124456591-124456641	HEEpiC	esophagus:	n/a
44	chr12:124457431-124457481	SAEC	small airway:	n/a
45	chr12:124458211-124458261	HNPCEpiC	eye:	n/a
46	chr12:124456164-124456214	SAEC	small airway:	n/a
47	chr12:124457418-124457468	NHBE	bronchial:	n/a
48	chr12:124456542-124456592	HepG2	liver:	n/a
49	chr12:124457418-124457468	GM12891	blood:	n/a
50	chr12:124457418-124457468	MCF-7	breast:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57081777..57082538-chr12:124457598..124458129,2	HCT-116	colon:
2	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
3	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
4	chr12:124457291..124457854-chr14:70233492..70234347,2	Hela-S3	cervix:
5	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
6	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
7	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
8	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
9	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
10	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
11	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
12	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
13	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
14	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
15	chr12:124457010..124457552-chr3:194353833..194354573,2	Hela-S3	cervix:
16	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
17	chr12:124427289..124429927-chr12:124454570..124456176,2	K562	blood:
18	chr12:124456565..124458963-chr17:72427263..72429561,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH10OS-8	chr12:124456004-124456261	ENSG00000270095.1

No data

Variant related genes	Relation type
FAM101A	TF binding region
ZNF664	TF binding region
ENSG00000270095	TF binding region
CCDC92	TF binding region
ENSG00000269938	TF binding region
ENSG00000269997	TF binding region
ENSG00000270061	TF binding region
FAM101A	CpG island
ZNF664	CpG island
ENSG00000270095	CpG island
CCDC92	CpG island
ENSG00000269938	CpG island
ENSG00000269997	CpG island
ENSG00000270061	CpG island
ENSG00000197653	chromatin interactions
ENSG00000269938	chromatin interactions
ENSG00000145014	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000269997	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000270130	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000139266	chromatin interactions
ENSG00000173838	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000270005	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000270048	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000170412	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536144548	chr12:124455824-124455825	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs184440688	chr12:124455854-124455855	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs540098040	chr12:124455865-124455866	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs565077243	chr12:124455916-124455917	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs76718274	chr12:124455970-124455971	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs59580952	chr12:124455982-124455983	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs532139407	chr12:124455984-124455985	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs544269483	chr12:124455985-124455986	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs562485745	chr12:124456002-124456003	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs114427408	chr12:124456022-124456023	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
11	rs576254645	chr12:124456048-124456049	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
12	rs142692326	chr12:124456076-124456077	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
13	rs527978342	chr12:124456125-124456126	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
14	rs112466187	chr12:124456157-124456158	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
15	rs147364547	chr12:124456172-124456173	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
16	rs542147773	chr12:124456174-124456175	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
17	rs188127807	chr12:124456199-124456200	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
18	rs533186945	chr12:124456231-124456232	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
19	rs370894097	chr12:124456247-124456248	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
20	rs552379640	chr12:124456276-124456277	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs77590030	chr12:124456309-124456310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs537975196	chr12:124456330-124456331	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs556203659	chr12:124456342-124456343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs137988893	chr12:124456344-124456345	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs535410397	chr12:124456376-124456377	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs112526276	chr12:124456407-124456408	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs572838550	chr12:124456417-124456418	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs374552601	chr12:124456424-124456425	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs530600942	chr12:124456428-124456429	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs552002605	chr12:124456438-124456439	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs374749405	chr12:124456440-124456441	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs36037304	chr12:124456441-124456442	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs548619552	chr12:124456455-124456456	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs368336005	chr12:124456458-124456459	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs568742055	chr12:124456496-124456497	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs534477102	chr12:124456537-124456538	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs111345807	chr12:124456585-124456586	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs543982408	chr12:124456587-124456588	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs192774795	chr12:124456617-124456618	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs373685442	chr12:124456651-124456652	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs541888847	chr12:124456662-124456663	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs570949921	chr12:124456691-124456692	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs540074267	chr12:124456695-124456696	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs555385847	chr12:124456730-124456731	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs112377455	chr12:124456747-124456748	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs531889889	chr12:124456771-124456772	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs549863833	chr12:124456772-124456773	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs371309490	chr12:124456834-124456835	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs535543212	chr12:124456923-124456924	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs547417850	chr12:124456940-124456941	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
2	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
4	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
11	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
12	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:124437000-124456200	Weak transcription	Gastric	stomach
14	chr12:124443800-124456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:124443800-124456000	Weak transcription	Fetal Kidney	kidney
16	chr12:124445000-124456000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:124448000-124456200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:124448000-124456200	Weak transcription	Lung	lung
20	chr12:124448400-124456000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:124449600-124456000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:124450200-124456000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:124450400-124456000	Weak transcription	Thymus	Thymus
24	chr12:124450400-124456200	Weak transcription	Ovary	ovary
25	chr12:124450600-124456000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:124450600-124456000	Weak transcription	Fetal Stomach	stomach
27	chr12:124450600-124456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:124451400-124456000	Weak transcription	Aorta	Aorta
29	chr12:124451400-124456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:124451800-124456000	Weak transcription	Right Ventricle	heart
31	chr12:124451800-124456200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:124452000-124456000	Weak transcription	HSMMtube	muscle
33	chr12:124452800-124456000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:124453200-124456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:124453800-124456000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:124454600-124456000	Weak transcription	HSMM	muscle
37	chr12:124454600-124457400	Active TSS	Right Atrium	heart
38	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:124454800-124456000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:124454800-124456000	Enhancers	Dnd41	blood
41	chr12:124455000-124456000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:124455000-124456000	Weak transcription	Left Ventricle	heart
43	chr12:124455000-124456400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:124455200-124456000	Active TSS	Brain Hippocampus Middle	brain
46	chr12:124455200-124456000	Enhancers	Fetal Lung	lung
47	chr12:124455200-124456000	Weak transcription	Psoas Muscle	Psoas
48	chr12:124455200-124456200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:124455200-124456200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:124455200-124456200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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