Variant report

Variant	rs12311433
Chromosome Location	chr12:51315014-51315015
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	chr12:51293772..51295866-chr12:51313586..51315285,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11169590	0.90[EUR][1000 genomes]
rs11169620	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311437	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312292	0.90[EUR][1000 genomes]
rs12317842	0.90[EUR][1000 genomes]
rs17125002	0.90[EUR][1000 genomes]
rs2579072	0.91[EUR][1000 genomes]
rs59396115	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61305556	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829127	0.91[EUR][1000 genomes]
rs864900	0.91[EUR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51311000-51316000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:51311200-51315600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:51311800-51318000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:51312800-51317400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51313000-51316200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:51313000-51316200	Weak transcription	HepG2	liver
7	chr12:51313000-51316800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:51313600-51318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:51313800-51316200	Weak transcription	GM12878-XiMat	blood
10	chr12:51313800-51316400	Weak transcription	K562	blood
11	chr12:51313800-51317400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:51314000-51316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:51314200-51315200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:51314200-51316000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:51314600-51315600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:51314600-51316200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:51314800-51315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:51314800-51315400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:51315000-51315600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:51315000-51317600	Enhancers	Brain Cingulate Gyrus	brain

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