Variant report

Variant	rs7129533
Chromosome Location	chr11:34872292-34872293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34870702..34874791-chr11:34878120..34882301,4	K562	blood:
2	chr11:34846502..34848843-chr11:34871445..34873663,2	K562	blood:
3	chr11:34870750..34872354-chr11:34883543..34885420,2	K562	blood:
4	chr11:34870702..34872577-chr11:34878120..34880872,2	K562	blood:
5	chr11:34865938..34868708-chr11:34870452..34873276,2	K562	blood:
6	chr11:34863977..34866462-chr11:34870377..34873238,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10488805	1.00[ASN][1000 genomes]
rs1049333	0.90[ASN][1000 genomes]
rs10836316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836317	0.85[EUR][1000 genomes]
rs11032891	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032894	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032895	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032907	0.83[ASN][1000 genomes]
rs11032939	1.00[ASN][1000 genomes]
rs11032956	1.00[ASN][1000 genomes]
rs11032958	1.00[ASN][1000 genomes]
rs11032959	1.00[ASN][1000 genomes]
rs11032960	1.00[ASN][1000 genomes]
rs11032961	1.00[ASN][1000 genomes]
rs11032963	1.00[ASN][1000 genomes]
rs11032970	1.00[ASN][1000 genomes]
rs11602364	0.83[EUR][1000 genomes]
rs11607986	0.86[EUR][1000 genomes]
rs12271867	1.00[ASN][1000 genomes]
rs12272820	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12273167	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12274680	1.00[ASN][1000 genomes]
rs12276679	1.00[ASN][1000 genomes]
rs12278318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279952	1.00[ASN][1000 genomes]
rs12280958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284844	1.00[ASN][1000 genomes]
rs12290759	1.00[ASN][1000 genomes]
rs12291039	1.00[ASN][1000 genomes]
rs12292931	1.00[ASN][1000 genomes]
rs12292993	1.00[ASN][1000 genomes]
rs12294339	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294397	1.00[ASN][1000 genomes]
rs1509659	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509660	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926365	1.00[ASN][1000 genomes]
rs16926479	1.00[ASN][1000 genomes]
rs16926673	0.90[ASN][1000 genomes]
rs17362114	1.00[ASN][1000 genomes]
rs17364197	0.90[ASN][1000 genomes]
rs17436343	0.90[ASN][1000 genomes]
rs17711539	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17712273	1.00[ASN][1000 genomes]
rs17783998	0.83[EUR][1000 genomes]
rs17784324	0.87[EUR][1000 genomes]
rs1828299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077926	0.83[ASN][1000 genomes]
rs41512444	1.00[ASN][1000 genomes]
rs4534556	0.87[EUR][1000 genomes]
rs55796371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55911702	0.87[EUR][1000 genomes]
rs56061305	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56922113	1.00[ASN][1000 genomes]
rs57611620	1.00[ASN][1000 genomes]
rs58127349	1.00[ASN][1000 genomes]
rs59676516	1.00[ASN][1000 genomes]
rs61760973	1.00[ASN][1000 genomes]
rs61882175	1.00[ASN][1000 genomes]
rs6484738	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114359	1.00[ASN][1000 genomes]
rs7114970	0.91[ASN][1000 genomes]
rs7115217	1.00[ASN][1000 genomes]
rs7115749	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119807	1.00[ASN][1000 genomes]
rs7120509	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7122048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124099	1.00[ASN][1000 genomes]
rs7124428	1.00[ASN][1000 genomes]
rs7129517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72922479	0.83[EUR][1000 genomes]
rs72922482	0.83[EUR][1000 genomes]
rs72924508	0.87[EUR][1000 genomes]
rs7924969	1.00[ASN][1000 genomes]
rs7927857	1.00[ASN][1000 genomes]
rs7929287	1.00[ASN][1000 genomes]
rs7932461	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7936426	1.00[ASN][1000 genomes]
rs7936983	1.00[ASN][1000 genomes]
rs7937316	0.83[EUR][1000 genomes]
rs7941937	1.00[ASN][1000 genomes]
rs7945524	1.00[ASN][1000 genomes]
rs7947848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7129533	APIP	cis	Thyroid	GTEx
rs7129533	APIP	cis	Nerve Tibial	GTEx
rs7129533	APIP	cis	Esophagus Muscularis	GTEx
rs7129533	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs7129533	APIP	cis	Heart Left Ventricle	GTEx
rs7129533	APIP	cis	Artery Tibial	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	chr11:34871200-34872600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:34871200-34872800	Enhancers	Hela-S3	cervix
4	chr11:34871200-34873200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:34871600-34872400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:34871600-34872400	Enhancers	Stomach Mucosa	stomach
7	chr11:34871600-34872600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr11:34871600-34875600	Weak transcription	Small Intestine	intestine
9	chr11:34871800-34872600	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:34872000-34875600	Weak transcription	Fetal Intestine Large	intestine
11	chr11:34872200-34872600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:34872200-34886600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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