Variant report

Variant	rs3136560
Chromosome Location	chr12:9916546-9916547
allele	C/T
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	ZNF384	chr12:9916249-9916757	K562	blood:	n/a	n/a
2	MYC	chr12:9916425-9916767	K562	blood:	n/a	chr12:9916589-9916599
3	MAX	chr12:9916412-9918022	NB4	blood:	n/a	chr12:9916589-9916599
4	STAT3	chr12:9916518-9918102	GM12878	blood:	n/a	chr12:9917753-9917761 chr12:9917226-9917237
5	BATF	chr12:9916388-9916687	GM12878	blood:	n/a	n/a
6	EGR1	chr12:9916414-9916684	K562	blood:	n/a	chr12:9916543-9916553 chr12:9916541-9916554 chr12:9916542-9916553 chr12:9916537-9916559 chr12:9916541-9916555 chr12:9916542-9916553 chr12:9916542-9916556 chr12:9916543-9916553 chr12:9916540-9916555
7	EP300	chr12:9916425-9916719	K562	blood:	n/a	n/a
8	MAX	chr12:9916460-9916698	K562	blood:	n/a	chr12:9916589-9916599
9	MYC	chr12:9916388-9916837	NB4	blood:	n/a	chr12:9916589-9916599
10	POLR2A	chr12:9916528-9918291	PBDE	blood:	n/a	n/a
11	RCOR1	chr12:9916429-9916629	K562	blood:	n/a	n/a
12	TBL1XR1	chr12:9916464-9918325	GM12878	blood:	n/a	n/a
13	EGR1	chr12:9916459-9916655	GM12878	blood:	n/a	chr12:9916543-9916553 chr12:9916541-9916554 chr12:9916542-9916553 chr12:9916537-9916559 chr12:9916541-9916555 chr12:9916542-9916553 chr12:9916542-9916556 chr12:9916543-9916553 chr12:9916540-9916555
14	ZNF143	chr12:9916514-9916714	GM12878	blood:	n/a	n/a
15	EGR1	chr12:9916416-9916694	K562	blood:	n/a	chr12:9916543-9916553 chr12:9916541-9916554 chr12:9916542-9916553 chr12:9916537-9916559 chr12:9916541-9916555 chr12:9916542-9916553 chr12:9916542-9916556 chr12:9916543-9916553 chr12:9916540-9916555
16	WRNIP1	chr12:9916471-9916702	GM12878	blood:	n/a	n/a
17	EGR1	chr12:9916463-9916652	GM12878	blood:	n/a	chr12:9916543-9916553 chr12:9916541-9916554 chr12:9916542-9916553 chr12:9916537-9916559 chr12:9916541-9916555 chr12:9916542-9916553 chr12:9916542-9916556 chr12:9916543-9916553 chr12:9916540-9916555
18	ZNF384	chr12:9916366-9917112	GM12878	blood:	n/a	n/a
19	EP300	chr12:9916500-9918141	GM12878	blood:	n/a	chr12:9917638-9917652 chr12:9917636-9917650
20	MAX	chr12:9916406-9916684	K562	blood:	n/a	chr12:9916589-9916599
21	MYC	chr12:9916415-9917807	K562	blood:	n/a	chr12:9916589-9916599
22	EP300	chr12:9916507-9918107	GM12878	blood:	n/a	chr12:9917638-9917652 chr12:9917636-9917650

No.	Distal block	Cell Line	Cell type
1	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:
2	chr12:9895231..9897767-chr12:9915766..9917544,2	K562	blood:
3	chr12:9916166..9917917-chr12:9948178..9949717,2	K562	blood:

Variant related genes	Relation type
CD69	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12307489	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176778	0.91[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176781	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176788	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176790	0.93[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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9913800-9917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:9914000-9916800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:9914200-9917000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9914200-9917000	Weak transcription	HUVEC	blood vessel
6	chr12:9914200-9917400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr12:9914200-9917800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:9914200-9918600	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:9914400-9917000	Enhancers	Primary B cells from cord blood	blood
10	chr12:9914400-9917400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:9914400-9918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:9914400-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:9914600-9917000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:9914600-9917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9914600-9918400	Enhancers	Fetal Thymus	thymus
16	chr12:9914600-9918600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
18	chr12:9914800-9916600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:9914800-9916600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:9914800-9916800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:9914800-9916800	Enhancers	Thymus	Thymus
22	chr12:9914800-9918600	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:9915000-9916800	Enhancers	Dnd41	blood
24	chr12:9915200-9916600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:9915200-9916800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:9915600-9917200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:9916000-9917000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:9916000-9917800	Enhancers	K562	blood
29	chr12:9916000-9918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:9916200-9916600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:9916200-9917000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:9916200-9918400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:9916400-9917200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:9916400-9917400	Enhancers	Fetal Intestine Small	intestine
35	chr12:9916400-9917400	Flanking Active TSS	GM12878-XiMat	blood

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