Variant report

Variant	rs10836317
Chromosome Location	chr11:34885522-34885523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34878119..34880348-chr11:34884856..34886591,2	K562	blood:
2	chr11:34880661..34882510-chr11:34884203..34886582,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10488802	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10836316	0.86[EUR][1000 genomes]
rs11032891	0.81[EUR][1000 genomes]
rs11032894	0.81[EUR][1000 genomes]
rs11032895	0.81[EUR][1000 genomes]
rs11032898	0.85[EUR][1000 genomes]
rs11032899	0.85[EUR][1000 genomes]
rs11032903	0.86[EUR][1000 genomes]
rs1117050	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11601737	0.81[EUR][1000 genomes]
rs11602364	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11602584	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11605600	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11605972	0.81[EUR][1000 genomes]
rs11605993	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs11606871	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11607986	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11608116	0.81[EUR][1000 genomes]
rs12278318	0.86[EUR][1000 genomes]
rs12280958	0.85[EUR][1000 genomes]
rs12294339	0.81[EUR][1000 genomes]
rs1409718	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1509659	0.81[EUR][1000 genomes]
rs1509660	0.81[EUR][1000 genomes]
rs1509661	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17347979	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17348697	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17348711	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17349298	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17432226	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17433496	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17434808	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs17434946	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs17711539	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17783998	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17784324	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1828299	0.85[EUR][1000 genomes]
rs2217479	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2421744	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3852515	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs3852516	0.81[AMR][1000 genomes]
rs3852517	0.87[CEU][hapmap]
rs4534556	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55672020	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55796371	0.85[EUR][1000 genomes]
rs55868872	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55911702	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55929026	0.81[AMR][1000 genomes]
rs55957800	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61734605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6484738	0.81[EUR][1000 genomes]
rs7106831	0.85[EUR][1000 genomes]
rs7110461	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7111695	0.84[EUR][1000 genomes]
rs7115749	0.81[EUR][1000 genomes]
rs7122048	0.85[EUR][1000 genomes]
rs7123029	0.86[EUR][1000 genomes]
rs7129517	0.85[EUR][1000 genomes]
rs7129533	0.85[EUR][1000 genomes]
rs7130678	0.85[EUR][1000 genomes]
rs7130774	0.85[EUR][1000 genomes]
rs7131229	0.85[EUR][1000 genomes]
rs7131272	0.85[EUR][1000 genomes]
rs72912924	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72912934	0.81[AMR][1000 genomes]
rs72922479	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72922482	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72924508	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72924541	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72924562	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72926580	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72928507	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72930433	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72930443	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72930458	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72930462	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72930468	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72930480	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7479823	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7937316	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7947848	0.85[EUR][1000 genomes]
rs7948977	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7950996	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10836317	APIP	cis	Esophagus Muscularis	GTEx
rs10836317	APIP	cis	Nerve Tibial	GTEx
rs10836317	APIP	cis	Adipose Subcutaneous	GTEx
rs10836317	APIP	cis	Heart Left Ventricle	GTEx
rs10836317	APIP	cis	Thyroid	GTEx
rs10836317	APIP	cis	Artery Aorta	GTEx
rs10836317	APIP	cis	Artery Tibial	GTEx
rs10836317	APIP	cis	lung	GTEx
rs10836317	APIP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34872200-34886600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34876600-34896000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:34877400-34886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:34878200-34891400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:34880200-34898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
9	chr11:34882400-34886600	Weak transcription	Esophagus	oesophagus
10	chr11:34882400-34886800	Weak transcription	Adipose Nuclei	Adipose
11	chr11:34885000-34896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:34885400-34888600	Enhancers	Primary monocytes fromperipheralblood	blood

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