Variant report

Variant	rs62178846
Chromosome Location	chr2:181973399-181973400
allele	A/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	POLR2A	chr2:181973285-181973422	MCF10A-Er-Src	breast:	n/a	n/a
2	NFIC	chr2:181972624-181973722	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181839506..181842433-chr2:181971642..181974430,2	K562	blood:

Variant related genes	Relation type
ENSG00000238171	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11891215	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11893821	0.88[EUR][1000 genomes]
rs12999974	0.88[EUR][1000 genomes]
rs13011751	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13012524	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13020845	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13025711	0.86[EUR][1000 genomes]
rs13033467	0.88[EUR][1000 genomes]
rs34601234	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34714467	0.88[EUR][1000 genomes]
rs35049898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35323141	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35543145	0.88[EUR][1000 genomes]
rs55664819	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55900432	0.88[EUR][1000 genomes]
rs55954384	0.88[EUR][1000 genomes]
rs56169464	0.86[EUR][1000 genomes]
rs59395276	0.86[EUR][1000 genomes]
rs6433892	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433895	0.86[EUR][1000 genomes]
rs6706397	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6746347	0.88[EUR][1000 genomes]
rs6759865	0.88[EUR][1000 genomes]
rs7558428	0.88[EUR][1000 genomes]
rs7566146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7566256	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566434	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7580796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592486	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598960	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181969000-181974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:181969200-181973600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:181969200-181974200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:181969400-181973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:181969400-181974000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:181969400-181974200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:181970800-181974000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:181972400-181973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:181972400-181973800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:181972400-181975200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:181972400-181976400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:181973000-181973400	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:181973200-181973400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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