Variant report

Variant	rs17035324
Chromosome Location	chr12:104617845-104617846
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	BATF	chr12:104617653-104617923	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
2	chr12:104617645..104619997-chr12:104678987..104680569,2	K562	blood:
3	chr12:104617675..104620122-chr12:104673280..104676243,2	K562	blood:
4	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000257732	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10400561	0.81[ASN][1000 genomes]
rs10507174	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs10507175	0.85[CHB][hapmap]
rs10745995	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10745996	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10778311	0.81[JPT][hapmap]
rs10778316	0.88[JPT][hapmap]
rs10778318	0.81[JPT][hapmap]
rs10861169	1.00[JPT][hapmap]
rs10861180	0.90[JPT][hapmap]
rs11111898	0.85[CHB][hapmap]
rs11111943	0.92[ASN][1000 genomes]
rs11111955	0.87[ASN][1000 genomes]
rs11111960	0.81[JPT][hapmap]
rs11111963	0.81[JPT][hapmap]
rs12422505	0.85[CHB][hapmap]
rs12423844	0.85[CHB][hapmap]
rs12424869	0.88[JPT][hapmap]
rs12424943	0.85[CHB][hapmap]
rs12426862	0.85[CHB][hapmap]
rs12427339	0.80[CHD][hapmap]
rs12582033	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12582966	0.85[CHB][hapmap]
rs12825521	0.85[CHB][hapmap]
rs17192854	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs17805748	0.85[CHB][hapmap]
rs17805766	0.85[CHB][hapmap]
rs4129598	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4131750	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs4131752	0.85[CHB][hapmap]
rs4246264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4388968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4406890	1.00[JPT][hapmap]
rs4475991	0.89[JPT][hapmap]
rs4545635	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4614534	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4964257	0.92[ASN][1000 genomes]
rs4964260	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4964270	0.87[ASN][1000 genomes]
rs4964271	0.91[ASN][1000 genomes]
rs4964627	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4964632	0.81[ASN][1000 genomes]
rs4964728	0.90[JPT][hapmap]
rs4964735	0.81[JPT][hapmap]
rs4964752	0.81[JPT][hapmap]
rs4964761	0.81[JPT][hapmap]
rs61939221	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61939222	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6419386	0.84[ASN][1000 genomes]
rs6539128	1.00[ASN][1000 genomes]
rs7132418	0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7138317	0.87[ASN][1000 genomes]
rs7138523	0.81[JPT][hapmap]
rs7295413	0.84[ASN][1000 genomes]
rs7299866	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs7305872	0.98[ASN][1000 genomes]
rs7310505	0.90[JPT][hapmap]
rs7313063	0.89[JPT][hapmap]
rs7314893	0.84[JPT][hapmap]
rs7342395	0.81[JPT][hapmap]
rs7958851	0.92[ASN][1000 genomes]
rs7975161	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7978101	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104614000-104619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:104614000-104623400	Weak transcription	Right Atrium	heart
3	chr12:104614200-104619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104615000-104620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:104615000-104625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104616600-104618000	Enhancers	Fetal Lung	lung
7	chr12:104617200-104618000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:104617400-104618000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr12:104617400-104618000	Enhancers	Fetal Stomach	stomach
10	chr12:104617400-104618000	Enhancers	GM12878-XiMat	blood
11	chr12:104617400-104618000	Enhancers	HMEC	breast
12	chr12:104617400-104618800	Enhancers	Placenta	Placenta
13	chr12:104617400-104619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:104617800-104618000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:104617800-104618800	Enhancers	A549	lung
16	chr12:104617800-104620200	Weak transcription	Muscle Satellite Cultured Cells	--

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