Variant report

Variant	rs136233
Chromosome Location	chr22:31212410-31212411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31212198..31213119-chr22:31286438..31287297,2	K562	blood:
2	chr22:31212147..31213102-chr22:31315948..31316544,4	K562	blood:
3	chr22:31212161..31213181-chr22:31315599..31316668,3	MCF-7	breast:
4	chr22:31212121..31212703-chr22:31480909..31481445,2	K562	blood:
5	chr22:31211911..31214800-chr22:31262284..31264572,2	MCF-7	breast:
6	chr22:31212073..31213088-chr22:31286382..31287174,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs136232	0.80[CEU][hapmap];0.93[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136238	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs136241	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136252	0.89[CEU][hapmap];0.93[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136257	0.89[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs136260	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136261	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136266	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136268	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136269	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136270	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136271	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136273	0.80[CEU][hapmap];0.82[CHD][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs136274	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs136279	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs136280	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs136281	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs136283	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136284	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136286	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136287	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136293	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs136299	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs136300	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749167	0.93[ASN][1000 genomes]
rs5749169	0.83[ASN][1000 genomes]
rs5749171	0.81[ASN][1000 genomes]
rs5749173	0.80[ASN][1000 genomes]
rs5753318	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753327	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5753334	0.83[ASN][1000 genomes]
rs5753335	0.81[ASN][1000 genomes]
rs5753337	0.80[ASN][1000 genomes]
rs5753341	0.80[ASN][1000 genomes]
rs62235916	0.90[ASN][1000 genomes]
rs62235942	0.81[ASN][1000 genomes]
rs742205	0.80[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs136233	RASL10A	cis	parietal	SCAN
rs136233	NF2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31199400-31213000	Weak transcription	Fetal Heart	heart
2	chr22:31199800-31218000	Weak transcription	Gastric	stomach
3	chr22:31201600-31217000	Weak transcription	Brain Anterior Caudate	brain
4	chr22:31202800-31213200	Weak transcription	HSMMtube	muscle
5	chr22:31203000-31217800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:31203600-31217800	Weak transcription	Brain Hippocampus Middle	brain
7	chr22:31204000-31213400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:31205600-31217000	Weak transcription	Brain Angular Gyrus	brain
9	chr22:31206400-31217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:31206800-31218000	Weak transcription	HSMM	muscle
11	chr22:31207000-31218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:31207200-31213600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:31209000-31213200	Weak transcription	Hela-S3	cervix
14	chr22:31209000-31218000	Weak transcription	A549	lung
15	chr22:31209600-31216000	Strong transcription	NHEK	skin
16	chr22:31211000-31217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:31212400-31212600	Enhancers	Right Atrium	heart

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