Variant report

Variant	rs11684434
Chromosome Location	chr2:187557001-187557002
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	USF1	chr2:187556584-187557005	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187553087..187557592-chr2:187558949..187563450,5	K562	blood:
2	chr2:187551282..187557363-chr2:187557813..187561684,8	MCF-7	breast:

Variant related genes	Relation type
FAM171B	TF binding region
ENSG00000227227	Chromatin interaction
ENSG00000144369	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10931252	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10931254	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1123176	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11678136	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683459	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11684356	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11684626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695399	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11885414	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11885416	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886619	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11891192	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11891461	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902171	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903048	0.86[ASN][1000 genomes]
rs12612335	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12614008	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12619357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12621915	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16828148	0.93[ASN][1000 genomes]
rs16828163	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16828175	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16828182	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16828214	0.90[ASN][1000 genomes]
rs2595389	0.93[ASN][1000 genomes]
rs2887831	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3213963	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs36079004	0.83[ASN][1000 genomes]
rs3738919	0.90[ASN][1000 genomes]
rs3768784	0.88[ASN][1000 genomes]
rs3768787	0.93[ASN][1000 genomes]
rs3795865	0.85[ASN][1000 genomes]
rs3820739	0.85[ASN][1000 genomes]
rs3886170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58757504	0.93[ASN][1000 genomes]
rs61762241	0.85[ASN][1000 genomes]
rs61764186	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61764188	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61764575	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61764576	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61764580	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61765186	0.88[ASN][1000 genomes]
rs72905143	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72905150	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72905152	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72905154	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72905160	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72905169	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584329	0.90[ASN][1000 genomes]
rs7589682	0.90[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
3	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
4	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
6	chr2:187546800-187558000	Weak transcription	A549	lung
7	chr2:187554400-187558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:187556200-187558200	Weak transcription	NH-A	brain
9	chr2:187556400-187558400	Weak transcription	HSMMtube	muscle
10	chr2:187556800-187558000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:187556800-187558000	Weak transcription	Brain Substantia Nigra	brain

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