Variant report

Variant	rs12233912
Chromosome Location	chr4:127489737-127489738
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127485626..127487285-chr4:127488917..127491013,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12233787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12500193	0.82[EUR][1000 genomes]
rs12504225	0.81[EUR][1000 genomes]
rs12508410	0.81[EUR][1000 genomes]
rs12510569	0.82[EUR][1000 genomes]
rs13123040	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17197887	0.84[EUR][1000 genomes]
rs17257398	0.84[EUR][1000 genomes]
rs1973347	0.80[EUR][1000 genomes]
rs2201054	0.87[EUR][1000 genomes]
rs313086	0.83[ASN][1000 genomes]
rs313094	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401403	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55667586	0.88[EUR][1000 genomes]
rs55940120	0.87[EUR][1000 genomes]
rs56036330	0.89[EUR][1000 genomes]
rs56042812	0.84[EUR][1000 genomes]
rs56118011	0.83[EUR][1000 genomes]
rs56154643	0.87[EUR][1000 genomes]
rs56378408	0.87[EUR][1000 genomes]
rs57096105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58505849	0.87[EUR][1000 genomes]
rs6810452	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72672012	0.84[EUR][1000 genomes]
rs72672013	0.82[EUR][1000 genomes]
rs72672015	0.84[EUR][1000 genomes]
rs72672016	0.84[EUR][1000 genomes]
rs72672017	0.84[EUR][1000 genomes]
rs72672021	0.84[EUR][1000 genomes]
rs72672022	0.84[EUR][1000 genomes]
rs72672023	0.84[EUR][1000 genomes]
rs72672029	0.90[EUR][1000 genomes]
rs72672037	0.89[EUR][1000 genomes]
rs72672041	0.89[EUR][1000 genomes]
rs72672046	0.89[EUR][1000 genomes]
rs72672049	0.89[EUR][1000 genomes]
rs72672058	0.87[EUR][1000 genomes]
rs72672061	0.81[EUR][1000 genomes]
rs72672063	0.81[EUR][1000 genomes]
rs72672064	0.81[EUR][1000 genomes]
rs7438059	0.85[EUR][1000 genomes]
rs7669805	0.89[EUR][1000 genomes]
rs7684632	0.86[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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127474800-127493400	Weak transcription	K562	blood
2	chr4:127485800-127490000	Weak transcription	Brain Substantia Nigra	brain
3	chr4:127489600-127491400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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