Variant report

Variant	rs13270960
Chromosome Location	chr8:102719150-102719151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1075791	0.86[CHB][hapmap]
rs11782150	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs11787002	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11787378	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs12681368	0.83[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs13272106	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13281022	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2387620	0.86[GIH][hapmap]
rs2387621	0.80[EUR][1000 genomes]
rs3735715	0.82[GIH][hapmap];0.82[TSI][hapmap]
rs3735717	0.82[GIH][hapmap];0.82[TSI][hapmap]
rs4256562	0.88[EUR][1000 genomes]
rs4734584	0.84[GIH][hapmap]
rs56306107	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468787	0.89[GIH][hapmap]
rs6468791	0.82[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs7828300	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7829690	0.91[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7843836	0.81[CHB][hapmap]
rs7844804	0.81[EUR][1000 genomes]
rs9297308	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9694455	0.83[LWK][hapmap]
rs9987401	1.00[CEU][hapmap]

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	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13270960	RIMS2	cis	parietal	SCAN
rs13270960	ODF1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102700000-102730600	Weak transcription	Aorta	Aorta
2	chr8:102708800-102729000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:102713800-102723200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:102713800-102768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:102714600-102719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:102714600-102740800	Weak transcription	Primary T cells from cord blood	blood
7	chr8:102714800-102721600	Weak transcription	Fetal Thymus	thymus
8	chr8:102714800-102722400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:102716000-102721400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:102716000-102733000	Weak transcription	Fetal Heart	heart
11	chr8:102716200-102734000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:102716400-102719200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:102716400-102720200	Weak transcription	Psoas Muscle	Psoas
14	chr8:102716400-102720600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:102716400-102722200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:102716400-102728800	Weak transcription	Fetal Stomach	stomach
17	chr8:102716600-102719400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:102716600-102731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:102716800-102719200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:102716800-102722600	Weak transcription	Ovary	ovary
21	chr8:102716800-102730600	Weak transcription	Left Ventricle	heart
22	chr8:102718000-102720000	Enhancers	NHDF-Ad	bronchial
23	chr8:102718000-102722400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:102718400-102719400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:102718800-102719200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:102718800-102719200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:102719000-102719200	Enhancers	Fetal Kidney	kidney
28	chr8:102719000-102719600	Enhancers	GM12878-XiMat	blood
29	chr8:102719000-102719800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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