Variant report

Variant	rs8032449
Chromosome Location	chr15:78408455-78408456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11072727	0.90[ASN][1000 genomes]
rs11072728	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11072729	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12440984	0.83[CEU][hapmap]
rs16969507	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs16969508	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs16969514	0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1971151	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2304828	0.81[ASN][1000 genomes]
rs2304829	0.91[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2867922	0.93[CHB][hapmap]
rs3784328	0.86[CHB][hapmap]
rs3784330	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59999498	0.90[ASN][1000 genomes]
rs62009270	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62009271	0.90[ASN][1000 genomes]
rs6495273	0.91[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161765	0.84[ASN][1000 genomes]
rs7162025	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164338	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs7359294	0.86[CHB][hapmap]
rs8028859	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036417	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs9806257	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8032449	CIB2	cis	Esophagus Mucosa	GTEx
rs8032449	CIB2	cis	Muscle Skeletal	GTEx
rs8032449	CIB2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396200-78421800	Weak transcription	Right Ventricle	heart
2	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:78397600-78421400	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:78398600-78413200	Weak transcription	Spleen	Spleen
6	chr15:78400000-78412800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
8	chr15:78400200-78414600	Weak transcription	Fetal Brain Female	brain
9	chr15:78401400-78413000	Weak transcription	Fetal Stomach	stomach
10	chr15:78401400-78414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:78403800-78412200	Weak transcription	Thymus	Thymus
12	chr15:78405600-78412800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:78405600-78413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:78405600-78421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:78406000-78412200	Weak transcription	Fetal Intestine Small	intestine
16	chr15:78406000-78414200	Weak transcription	Fetal Intestine Large	intestine
17	chr15:78406000-78421600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:78406200-78412800	Weak transcription	Fetal Thymus	thymus
20	chr15:78406400-78409600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:78406400-78410000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:78406400-78412400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:78406400-78412400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:78406400-78412600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:78406400-78420000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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