Variant report

Variant	rs12157518
Chromosome Location	chr22:28754042-28754043
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	chr22:28746054..28748860-chr22:28753895..28756337,2	K562	blood:
2	chr22:28745543..28747734-chr22:28752651..28754673,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12159502	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16986103	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16986290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16986377	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16986462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16986548	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2345714	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28462248	0.88[ASN][1000 genomes]
rs35731009	0.82[ASN][1000 genomes]
rs55961693	0.88[ASN][1000 genomes]
rs5762534	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap]
rs58427200	0.95[ASN][1000 genomes]
rs5997341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5997355	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5997363	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[ASN][1000 genomes]
rs5997365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5997372	0.90[ASN][1000 genomes]
rs6005724	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005726	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005733	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs6005751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005757	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs6005758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005765	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6005783	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6005789	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6005793	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73427747	0.95[ASN][1000 genomes]
rs73428082	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73428096	0.95[ASN][1000 genomes]
rs73430108	0.95[ASN][1000 genomes]
rs7510988	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
2	chr22:28742800-28759600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:28743000-28759000	Weak transcription	Dnd41	blood
4	chr22:28745200-28754400	Weak transcription	Brain Anterior Caudate	brain
5	chr22:28746200-28754200	Weak transcription	Fetal Heart	heart
6	chr22:28748000-28755800	Weak transcription	Fetal Intestine Small	intestine
7	chr22:28748000-28759600	Weak transcription	Fetal Lung	lung
8	chr22:28748200-28754200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:28748800-28754200	Weak transcription	Fetal Brain Male	brain
10	chr22:28752000-28754400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:28752800-28754200	Weak transcription	Right Ventricle	heart
12	chr22:28752800-28759000	Weak transcription	Ovary	ovary
13	chr22:28752800-28768600	Weak transcription	Left Ventricle	heart
14	chr22:28753200-28755000	Enhancers	Brain Germinal Matrix	brain
15	chr22:28753800-28754400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:28753800-28754800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr22:28753800-28754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:28753800-28754800	Enhancers	Fetal Brain Female	brain
19	chr22:28753800-28755000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr22:28754000-28754600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:28754000-28754600	Enhancers	Fetal Kidney	kidney
22	chr22:28754000-28754800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr22:28754000-28754800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr22:28754000-28754800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:28754000-28755000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:28754000-28759400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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