Variant report

Variant	rs953673
Chromosome Location	chr12:49149597-49149598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49148849..49150468-chr12:49329197..49331509,2	K562	blood:
2	chr12:49149266..49153100-chr12:49181145..49183886,3	MCF-7	breast:
3	chr12:49147414..49150130-chr12:49207640..49210024,2	MCF-7	breast:
4	chr12:49142607..49145530-chr12:49148630..49150355,2	K562	blood:

Variant related genes	Relation type
ENSG00000174233	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000257660	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10875851	1.00[ASN][1000 genomes]
rs11168659	1.00[ASN][1000 genomes]
rs11168660	1.00[ASN][1000 genomes]
rs11168661	1.00[ASN][1000 genomes]
rs11168664	1.00[ASN][1000 genomes]
rs11168667	1.00[ASN][1000 genomes]
rs11168680	1.00[ASN][1000 genomes]
rs11168690	1.00[ASN][1000 genomes]
rs11168691	1.00[ASN][1000 genomes]
rs11168692	1.00[ASN][1000 genomes]
rs11168693	1.00[ASN][1000 genomes]
rs11168694	1.00[ASN][1000 genomes]
rs11168695	1.00[ASN][1000 genomes]
rs11168699	1.00[ASN][1000 genomes]
rs11168700	1.00[ASN][1000 genomes]
rs11168701	1.00[ASN][1000 genomes]
rs11168708	1.00[ASN][1000 genomes]
rs11168715	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168717	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168718	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168719	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168722	1.00[CEU][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168727	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	1.00[ASN][1000 genomes]
rs12369279	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424638	1.00[CHD][hapmap]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	1.00[ASN][1000 genomes]
rs1895994	1.00[ASN][1000 genomes]
rs2409084	1.00[ASN][1000 genomes]
rs3013	1.00[ASN][1000 genomes]
rs4132370	1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942012	1.00[ASN][1000 genomes]
rs61942013	1.00[ASN][1000 genomes]
rs61942014	1.00[ASN][1000 genomes]
rs61942015	1.00[ASN][1000 genomes]
rs61942016	1.00[ASN][1000 genomes]
rs61942018	1.00[ASN][1000 genomes]
rs61942047	1.00[ASN][1000 genomes]
rs61942048	1.00[ASN][1000 genomes]
rs61942049	1.00[ASN][1000 genomes]
rs61942051	1.00[ASN][1000 genomes]
rs61942058	1.00[ASN][1000 genomes]
rs61942059	1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580694	1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[ASN][1000 genomes]
rs7138342	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294389	1.00[ASN][1000 genomes]
rs7295027	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7295138	1.00[ASN][1000 genomes]
rs7296987	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303113	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	1.00[ASN][1000 genomes]
rs7964801	1.00[ASN][1000 genomes]
rs7966343	1.00[ASN][1000 genomes]
rs7967175	1.00[ASN][1000 genomes]
rs7967542	1.00[ASN][1000 genomes]
rs7973954	1.00[ASN][1000 genomes]
rs7975102	1.00[ASN][1000 genomes]
rs7977935	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979508	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs953673	C12orf41	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49134600-49161800	Weak transcription	A549	lung
2	chr12:49144800-49158400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49144800-49159400	Weak transcription	HSMMtube	muscle
4	chr12:49145400-49152000	Weak transcription	Stomach Mucosa	stomach
5	chr12:49145400-49158400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:49145400-49158600	Weak transcription	Gastric	stomach
7	chr12:49147400-49152200	Weak transcription	Fetal Heart	heart
8	chr12:49147800-49158400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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