Variant report

Variant	rs9282675
Chromosome Location	chr2:128051726-128051727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:406)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:128051408-128052046	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr2:128051468-128052024	HepG2	liver:	n/a	n/a
3	RFX5	chr2:128051655-128051947	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:128051461-128052035	GM10847	blood:	n/a	n/a
5	MAX	chr2:128051487-128052001	K562	blood:	n/a	n/a
6	CHD1	chr2:128051308-128051988	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr2:128050878-128052228	H1-neurons	neurons:	n/a	n/a
8	GTF2F1	chr2:128051606-128052005	Hela-S3	cervix:	n/a	n/a
9	TAF1	chr2:128051493-128051936	GM12892	blood:	n/a	n/a
10	POLR2A	chr2:128051216-128052058	Raji	blood:	n/a	n/a
11	TCF12	chr2:128051314-128052112	ECC-1	luminal epithelium:	n/a	n/a
12	MYC	chr2:128051675-128051947	HepG2	liver:	n/a	n/a
13	SIN3A	chr2:128050834-128052044	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr2:128051469-128051959	A549	lung:	n/a	chr2:128051849-128051861
15	POLR2A	chr2:128051432-128051962	HepG2	liver:	n/a	n/a
16	BACH1	chr2:128051710-128051906	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:128051358-128052354	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr2:128051221-128052187	MCF-7	breast:	n/a	n/a
19	POLR2A	chr2:128051434-128052277	PANC-1	pancreas:	n/a	n/a
20	E2F6	chr2:128051295-128052093	A549	lung:	n/a	n/a
21	POLR2A	chr2:128051361-128052054	GM18526	blood:	n/a	n/a
22	POLR2A	chr2:128051180-128053077	PANC-1	pancreas:	n/a	n/a
23	SP2	chr2:128051486-128052043	HepG2	liver:	n/a	chr2:128051769-128051784
24	POLR2A	chr2:128051003-128052170	GM12892	blood:	n/a	n/a
25	GABPA	chr2:128051045-128052082	SK-N-SH	brain:	n/a	n/a
26	GABPA	chr2:128051357-128051917	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr2:128051582-128051883	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:128051489-128052038	K562	blood:	n/a	n/a
29	CHD2	chr2:128051470-128051909	HepG2	liver:	n/a	n/a
30	REST	chr2:128051633-128051825	Hela-S3	cervix:	n/a	n/a
31	EP300	chr2:128051483-128051839	GM12878	blood:	n/a	n/a
32	YY1	chr2:128051346-128051980	K562	blood:	n/a	n/a
33	ZBTB7A	chr2:128051337-128052045	ECC-1	luminal epithelium:	n/a	n/a
34	EGR1	chr2:128051664-128051936	K562	blood:	n/a	chr2:128051684-128051698
35	POLR2A	chr2:128051256-128052165	GM12892	blood:	n/a	n/a
36	TBL1XR1	chr2:128051459-128052104	GM12878	blood:	n/a	n/a
37	MAX	chr2:128051175-128052094	MCF-7	breast:	n/a	n/a
38	MYC	chr2:128051369-128052090	K562	blood:	n/a	n/a
39	TBP	chr2:128051325-128051994	H1-hESC	embryonic stem cell:	n/a	n/a
40	CCNT2	chr2:128051309-128051875	K562	blood:	n/a	n/a
41	MAZ	chr2:128051404-128052014	K562	blood:	n/a	n/a
42	GABPA	chr2:128050974-128052136	MCF-7	breast:	n/a	n/a
43	PML	chr2:128051138-128052222	GM12878	blood:	n/a	n/a
44	RCOR1	chr2:128051226-128051938	HepG2	liver:	n/a	n/a
45	MTA3	chr2:128051022-128052205	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:128051375-128052132	PFSK-1	brain:	n/a	n/a
47	MAZ	chr2:128051519-128051976	HepG2	liver:	n/a	n/a
48	CEBPD	chr2:128051489-128052092	K562	blood:	n/a	n/a
49	MAX	chr2:128051293-128052064	H1-hESC	embryonic stem cell:	n/a	n/a
50	POU2F2	chr2:128051310-128052037	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128051708-128051758	ECC-1	luminal epithelium:	n/a
2	chr2:128051708-128051758	Caco-2	colon:	n/a
3	chr2:128051708-128051758	GM19239	blood:	n/a
4	chr2:128051708-128051758	AG10803	skin:	n/a
5	chr2:128051708-128051758	HEK293	kidney:	embryo
6	chr2:128051708-128051758	AoSMC	blood vessel:	n/a
7	chr2:128051708-128051758	IMR90	lung:	fetal
8	chr2:128051708-128051758	SK-N-SH_RA	brain:	n/a
9	chr2:128051708-128051758	LNCaP	prostate:	n/a
10	chr2:128051708-128051758	Hela-S3	cervix:	n/a
11	chr2:128051708-128051758	A549	lung:	n/a
12	chr2:128051708-128051758	BE2_C	brain:	n/a
13	chr2:128051708-128051758	H1-hESC	embryonic stem cell:	embryo
14	chr2:128051708-128051758	SKMC	muscle:	n/a
15	chr2:128051708-128051758	PFSK-1	brain:	n/a
16	chr2:128051708-128051758	AG04449	skin:	fetal
17	chr2:128051708-128051758	ProgFib	skin:	n/a
18	chr2:128051708-128051758	HEEpiC	esophagus:	n/a
19	chr2:128051708-128051758	HCM	heart:	n/a
20	chr2:128051708-128051758	NH-A	brain:	n/a
21	chr2:128051708-128051758	HUVEC	blood vessel:	n/a
22	chr2:128051708-128051758	HCT-116	colon:	n/a
23	chr2:128051708-128051758	NHBE	bronchial:	n/a
24	chr2:128051708-128051758	HAEpiC	amniotic membrane:	n/a
25	chr2:128051708-128051758	AG04450	lung:	fetal
26	chr2:128051708-128051758	Hepatocyte	liver:	n/a
27	chr2:128051708-128051758	SAEC	small airway:	n/a
28	chr2:128051708-128051758	GM06990	blood:	n/a
29	chr2:128051708-128051758	GM12892	blood:	n/a
30	chr2:128051708-128051758	HepG2	liver:	n/a
31	chr2:128051708-128051758	CMK	blood:	n/a
32	chr2:128051708-128051758	HRE	kidney:	n/a
33	chr2:128051708-128051758	K562	blood:	n/a
34	chr2:128051708-128051758	HCF	heart:	n/a
35	chr2:128051708-128051758	MCF-7	breast:	n/a
36	chr2:128051708-128051758	ovcar-3	ovarian:	n/a
37	chr2:128051708-128051758	GM12891	blood:	n/a
38	chr2:128051708-128051758	RPTEC	kidney:	n/a
39	chr2:128051708-128051758	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:128051708-128051758	GM12878	blood:	n/a
41	chr2:128051708-128051758	SK-N-MC	brain:	n/a
42	chr2:128051708-128051758	SK-N-SH	brain:	n/a
43	chr2:128051708-128051758	NT2-D1	testis:	n/a
44	chr2:128051708-128051758	HCPEpiC	choroid plexus:	n/a
45	chr2:128051708-128051758	BJ	skin:	n/a
46	chr2:128051708-128051758	AG09319	gingival:	n/a
47	chr2:128051708-128051758	T-47D	breast:	n/a
48	chr2:128051708-128051758	HL-60	blood:	n/a
49	chr2:128051708-128051758	HRPEpiC	eye:	n/a
50	chr2:128051708-128051758	HMEC	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128045827..128047881-chr2:128049026..128051803,2	MCF-7	breast:
2	chr2:128047217..128049031-chr2:128049443..128051921,3	MCF-7	breast:
3	chr1:153507987..153508581-chr2:128051374..128052175,2	HCT-116	colon:
4	chr2:128050445..128053038-chr2:128144842..128147674,3	K562	blood:
5	chr2:128051192..128051755-chr8:119124057..119124776,2	HCT-116	colon:
6	chr17:25621185..25622000-chr2:128051310..128051925,2	Hela-S3	cervix:
7	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:
8	chr2:128019410..128021681-chr2:128050187..128052921,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERCC3	TF binding region
ERCC3	CpG island
ENSG00000197956	Chromatin interaction
ENSG00000109046	Chromatin interaction
ENSG00000163161	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000182197	Chromatin interaction
ENSG00000169967	Chromatin interaction
ENSG00000236682	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs3817088	0.89[ASN][1000 genomes]
rs4150406	0.89[ASN][1000 genomes]
rs4150436	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150452	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150466	0.89[ASN][1000 genomes]
rs4150519	0.89[ASN][1000 genomes]
rs56291216	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57347433	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58965651	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6755652	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953605	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73956517	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956519	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956522	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956525	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73956526	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128050400-128052600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:128050600-128052200	Active TSS	Colon Smooth Muscle	Colon
3	chr2:128050600-128052400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:128050600-128052600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:128050800-128051800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:128050800-128052400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:128050800-128052400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:128050800-128052400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:128050800-128052400	Active TSS	Fetal Kidney	kidney
10	chr2:128050800-128052400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:128050800-128052400	Active TSS	Psoas Muscle	Psoas
12	chr2:128050800-128052800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:128051000-128052000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:128051000-128052000	Bivalent/Poised TSS	HepG2	liver
15	chr2:128051000-128052200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:128051000-128052200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:128051000-128052200	Active TSS	Aorta	Aorta
18	chr2:128051000-128052200	Active TSS	Brain Substantia Nigra	brain
19	chr2:128051000-128052200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr2:128051000-128052200	Active TSS	Small Intestine	intestine
21	chr2:128051000-128052200	Active TSS	HSMMtube	muscle
22	chr2:128051000-128052200	Active TSS	NHDF-Ad	bronchial
23	chr2:128051000-128052400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:128051000-128052400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:128051000-128052400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:128051000-128052600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:128051000-128052600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:128051000-128052800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:128051200-128052000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:128051200-128052000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr2:128051200-128052000	Active TSS	Fetal Heart	heart
32	chr2:128051200-128052000	Active TSS	Fetal Muscle Leg	muscle
33	chr2:128051200-128052000	Active TSS	Placenta	Placenta
34	chr2:128051200-128052000	Active TSS	Fetal Thymus	thymus
35	chr2:128051200-128052000	Active TSS	Spleen	Spleen
36	chr2:128051200-128052200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:128051200-128052200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:128051200-128052200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:128051200-128052200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:128051200-128052200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:128051200-128052200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:128051200-128052200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:128051200-128052200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:128051200-128052200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:128051200-128052200	Active TSS	Brain Hippocampus Middle	brain
46	chr2:128051200-128052200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:128051200-128052200	Active TSS	Left Ventricle	heart
48	chr2:128051200-128052200	Active TSS	Pancreas	Pancrea
49	chr2:128051200-128052200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr2:128051200-128052200	Active TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links