Variant report

Variant	rs17375619
Chromosome Location	chr12:25099143-25099144
allele	C/G
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	TBL1XR1	chr12:25098900-25099170	K562	blood:	n/a	n/a
2	POLR2A	chr12:25086081-25102562	K562	blood:	n/a	n/a
3	IRF1	chr12:25098858-25102743	K562	blood:	n/a	chr12:25101613-25101626 chr12:25099901-25099908 chr12:25101550-25101559 chr12:25101614-25101631 chr12:25101093-25101110 chr12:25099160-25099172
4	ARID3A	chr12:25098999-25100771	K562	blood:	n/a	n/a
5	MXI1	chr12:25098837-25104010	SK-N-SH	brain:	n/a	chr12:25102392-25102407
6	RFX5	chr12:25099128-25099598	K562	blood:	n/a	n/a
7	GATA1	chr12:25099033-25104129	PBDE	blood:	n/a	chr12:25100960-25100967 chr12:25099939-25099949 chr12:25102320-25102330 chr12:25103383-25103399 chr12:25100960-25100967 chr12:25103405-25103422 chr12:25103386-25103395 chr12:25099908-25099915 chr12:25101551-25101561 chr12:25100960-25100967
8	IRF1	chr12:25099122-25101197	K562	blood:	n/a	chr12:25099901-25099908 chr12:25101093-25101110 chr12:25099160-25099172

No.	Distal block	Cell Line	Cell type
1	chr12:25007357..25008874-chr12:25098952..25100961,2	K562	blood:
2	chr12:25007357..25009487-chr12:25098229..25100452,2	K562	blood:
3	chr12:25096555..25099417-chr12:25125856..25128677,2	K562	blood:
4	chr12:25098868..25101695-chr12:25348217..25350408,2	K562	blood:
5	chr12:25005509..25007227-chr12:25098773..25101802,3	K562	blood:
6	chr12:24849399..24850947-chr12:25098136..25101105,2	K562	blood:
7	chr12:25098421..25101147-chr12:25131341..25133426,2	K562	blood:

Variant related genes	Relation type
ENSG00000255921	TF binding region
ENSG00000205707	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12580682	0.83[AFR][1000 genomes]
rs12581344	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs12819423	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17316445	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7485780	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1041221	chr12:24880443-25213168	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv541425	chr12:24880443-25213168	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv469170	chr12:24891175-25204353	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv557776	chr12:24891175-25204353	Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv557777	chr12:24891175-25205241	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv469173	chr12:24891175-25207653	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv557778	chr12:24891175-25207653	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1049138	chr12:24921100-25164524	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1051319	chr12:24921100-25238936	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1051968	chr12:24941350-25138118	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv541427	chr12:24941350-25138118	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	nsv1037288	chr12:24941350-25238936	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv541428	chr12:24941350-25238936	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
21	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv832353	chr12:25060820-25119975	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv3378403	chr12:25084023-25181017	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25084800-25099800	Weak transcription	Thymus	Thymus
2	chr12:25086800-25100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:25091400-25099400	Weak transcription	NHEK	skin
4	chr12:25091600-25101000	Weak transcription	Lung	lung
5	chr12:25091800-25099600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:25092000-25099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:25092800-25101400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:25093800-25100400	Weak transcription	Fetal Stomach	stomach
9	chr12:25094800-25099200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:25095000-25099600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:25097000-25099800	Enhancers	HepG2	liver
12	chr12:25097000-25100000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:25097000-25100600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:25097400-25099200	Weak transcription	Fetal Lung	lung
15	chr12:25097600-25099200	Enhancers	HSMMtube	muscle
16	chr12:25097800-25099400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:25098200-25099200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:25098200-25099400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:25098400-25099200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:25098400-25099400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:25098400-25099800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:25098400-25100200	Weak transcription	A549	lung
23	chr12:25098400-25102600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:25098600-25099200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
25	chr12:25098600-25099200	Enhancers	Ovary	ovary
26	chr12:25098600-25099400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:25098600-25099400	Enhancers	Dnd41	blood
28	chr12:25098600-25099600	Enhancers	Osteobl	bone
29	chr12:25098600-25099800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:25098600-25100000	Enhancers	Fetal Thymus	thymus
31	chr12:25098600-25100400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:25098600-25100600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:25098800-25099200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:25098800-25099400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:25098800-25099400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:25098800-25099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:25098800-25099600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:25098800-25099600	Weak transcription	Placenta	Placenta
39	chr12:25098800-25100200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:25098800-25100800	Flanking Active TSS	HUVEC	blood vessel
41	chr12:25098800-25101600	Active TSS	Right Atrium	heart
42	chr12:25098800-25101800	Active TSS	GM12878-XiMat	blood
43	chr12:25099000-25099200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:25099000-25099200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:25099000-25099400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:25099000-25099400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:25099000-25099400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:25099000-25099400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:25099000-25099400	Weak transcription	HSMM	muscle
50	chr12:25099000-25099400	Flanking Active TSS	NH-A	brain

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