Variant report

Variant	rs2404346
Chromosome Location	chr12:40387923-40387924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10506145	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10877837	0.82[ASN][1000 genomes]
rs11564133	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11564137	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11564139	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564160	0.92[EUR][1000 genomes]
rs11564223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482282	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17442108	0.91[EUR][1000 genomes]
rs17442304	0.92[EUR][1000 genomes]
rs17442469	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442805	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17458299	0.92[EUR][1000 genomes]
rs17458396	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17458403	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17483628	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046929	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086598	0.92[EUR][1000 genomes]
rs2404574	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28370607	0.82[ASN][1000 genomes]
rs28370611	0.82[ASN][1000 genomes]
rs28370644	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370654	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370656	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28370659	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370681	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28740188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707305	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969495	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:40366400-40390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40380800-40393400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:40384400-40391800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:40384400-40405200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea
7	chr12:40387400-40390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:40387800-40388000	Enhancers	Fetal Brain Male	brain

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