Variant report

Variant	rs8177224
Chromosome Location	chr3:133474003-133474004
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133300041..133302235-chr3:133472033..133474036,2	K562	blood:
2	chr3:133465852..133469783-chr3:133471795..133476120,4	K562	blood:
3	chr3:133425971..133428369-chr3:133473525..133475765,2	MCF-7	breast:
4	chr3:133472488..133475139-chr3:133486239..133489016,2	K562	blood:

Variant related genes	Relation type
ENSG00000091513	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10433417	0.87[EUR][1000 genomes]
rs10935073	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11921527	0.83[EUR][1000 genomes]
rs12490148	0.91[MEX][hapmap]
rs12493887	0.83[EUR][1000 genomes]
rs12639304	0.83[EUR][1000 genomes]
rs12769	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525889	0.95[MEX][hapmap]
rs3811647	0.91[MEX][hapmap];0.80[AMR][1000 genomes]
rs3811658	0.80[CEU][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs4241357	0.84[CEU][hapmap]
rs4459901	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4481157	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs4525863	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4854760	0.82[MEX][hapmap]
rs4854761	0.82[MEX][hapmap]
rs4854762	0.86[MEX][hapmap]
rs6439431	0.87[EUR][1000 genomes]
rs6439435	0.88[EUR][1000 genomes]
rs6774822	0.83[EUR][1000 genomes]
rs6775042	0.83[EUR][1000 genomes]
rs6777860	0.86[EUR][1000 genomes]
rs6780650	0.88[EUR][1000 genomes]
rs6782523	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6787177	0.87[EUR][1000 genomes]
rs6794945	0.91[MEX][hapmap]
rs6797713	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6798547	0.88[EUR][1000 genomes]
rs7638018	0.95[MEX][hapmap]
rs7646118	0.88[EUR][1000 genomes]
rs8177177	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs8177178	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8177197	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177204	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8177248	0.81[CHD][hapmap];0.91[MEX][hapmap]
rs8177253	0.81[CHD][hapmap];0.86[MEX][hapmap]
rs8177256	0.80[AMR][1000 genomes]
rs8177259	0.80[AMR][1000 genomes]
rs8177261	0.80[AMR][1000 genomes]
rs8177262	0.81[CHD][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes]
rs8177272	0.81[CHD][hapmap];0.91[MEX][hapmap]
rs9829019	0.87[EUR][1000 genomes]
rs9831392	0.86[EUR][1000 genomes]
rs9843728	0.87[MEX][hapmap]
rs9869257	0.88[EUR][1000 genomes]
rs9869535	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3380897	chr3:133473262-133477260	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8177224	SRPRB	cis	parietal	SCAN
rs8177224	PCCB	cis	cerebellum	SCAN
rs8177224	TOPBP1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133466800-133476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133469600-133474400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:133469600-133476400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:133471400-133474800	Genic enhancers	Brain Substantia Nigra	brain
6	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:133471800-133477000	Genic enhancers	Brain Cingulate Gyrus	brain
8	chr3:133472000-133474800	Enhancers	K562	blood
9	chr3:133472000-133476400	Enhancers	Esophagus	oesophagus
10	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
11	chr3:133473000-133474200	Enhancers	NHEK	skin
12	chr3:133473000-133476800	Strong transcription	Brain Anterior Caudate	brain
13	chr3:133473200-133475200	Genic enhancers	HepG2	liver
14	chr3:133473200-133476200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:133473400-133476000	Strong transcription	Adipose Nuclei	Adipose
16	chr3:133473400-133480800	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr3:133473600-133474600	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:133473600-133475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:133473800-133475200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:133473800-133476200	Weak transcription	HMEC	breast
21	chr3:133473800-133478200	Strong transcription	Liver	Liver
22	chr3:133474000-133474600	Bivalent Enhancer	HSMMtube	muscle
23	chr3:133474000-133475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:133474000-133480200	Strong transcription	Brain Hippocampus Middle	brain

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