Variant report

Variant	rs2148856
Chromosome Location	chr9:72811439-72811440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10868610	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10868623	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10868798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11141936	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142019	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11142346	0.93[AMR][1000 genomes]
rs11142355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11791792	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11794396	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs1180090	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1180093	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1180095	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1180109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1180116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1180131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12005243	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12338030	0.87[AMR][1000 genomes]
rs12341341	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12341763	0.80[ASN][1000 genomes]
rs12343885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12346675	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12352944	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12684881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4507832	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4744983	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59836712	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62570296	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62570306	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62570318	0.93[AMR][1000 genomes]
rs7023586	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72712267	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72712271	0.93[AMR][1000 genomes]
rs7849942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7873075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72793000-72842600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72800800-72811600	Weak transcription	Esophagus	oesophagus
3	chr9:72802000-72827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:72802200-72820000	Weak transcription	Fetal Lung	lung
5	chr9:72804600-72816200	Weak transcription	Adipose Nuclei	Adipose
6	chr9:72805200-72820200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:72806400-72819600	Weak transcription	Liver	Liver
8	chr9:72807600-72813800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:72807800-72812000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr9:72808000-72819600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:72808000-72819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:72808000-72820000	Weak transcription	HMEC	breast
13	chr9:72808000-72820400	Weak transcription	Left Ventricle	heart
14	chr9:72808200-72812200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:72808200-72813000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:72808200-72820000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:72809000-72813000	Strong transcription	HSMMtube	muscle
18	chr9:72809400-72820400	Weak transcription	HSMM	muscle
19	chr9:72809600-72837800	Weak transcription	NH-A	brain
20	chr9:72810200-72811800	Strong transcription	Ovary	ovary
21	chr9:72810800-72812400	Weak transcription	NHDF-Ad	bronchial
22	chr9:72810800-72827800	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:72811400-72820400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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