Variant report

Variant	rs60306658
Chromosome Location	chr12:10509153-10509154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10436832..10439225-chr12:10509141..10511407,2	K562	blood:
2	chr12:10507526..10509637-chr12:10511583..10513205,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10732559	1.00[AMR][1000 genomes]
rs10734835	1.00[AMR][1000 genomes]
rs10734836	1.00[AMR][1000 genomes]
rs10743900	1.00[AMR][1000 genomes]
rs10743901	1.00[AMR][1000 genomes]
rs10743902	1.00[AMR][1000 genomes]
rs10743906	1.00[AMR][1000 genomes]
rs10743907	1.00[AMR][1000 genomes]
rs10772308	1.00[AMR][1000 genomes]
rs10845133	1.00[AMR][1000 genomes]
rs11053840	1.00[AMR][1000 genomes]
rs11053844	1.00[AMR][1000 genomes]
rs11053845	1.00[AMR][1000 genomes]
rs11831375	1.00[AMR][1000 genomes]
rs1607787	1.00[AMR][1000 genomes]
rs2417736	1.00[AMR][1000 genomes]
rs2417737	1.00[AMR][1000 genomes]
rs2417742	1.00[AMR][1000 genomes]
rs2537780	1.00[AMR][1000 genomes]
rs2927559	1.00[AMR][1000 genomes]
rs36171638	1.00[AMR][1000 genomes]
rs4258459	1.00[AMR][1000 genomes]
rs4316593	1.00[AMR][1000 genomes]
rs4348990	1.00[AMR][1000 genomes]
rs4503631	1.00[AMR][1000 genomes]
rs59357284	1.00[AMR][1000 genomes]
rs7136822	1.00[AMR][1000 genomes]
rs7295368	1.00[AMR][1000 genomes]
rs7960696	1.00[AMR][1000 genomes]
rs7976728	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10507200-10513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:10507400-10510200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10507400-10512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:10507400-10512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:10507400-10513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:10507400-10513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:10507400-10513400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:10507400-10515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:10507600-10513400	Weak transcription	HMEC	breast
10	chr12:10508000-10511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:10508000-10515200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:10508200-10511400	Weak transcription	Hela-S3	cervix
13	chr12:10508400-10509200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:10508800-10511400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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