Variant report

Variant	rs2915179
Chromosome Location	chr11:34871943-34871944
allele	A/G
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: 70 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1117051	0.82[JPT][hapmap]
rs1396880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509662	0.82[ASN][1000 genomes]
rs1549789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549791	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553758	0.89[ASN][1000 genomes]
rs1553759	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1553760	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1553761	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1553762	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1828298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858166	0.89[ASN][1000 genomes]
rs1960524	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs1991648	0.83[JPT][hapmap]
rs2031686	0.82[JPT][hapmap]
rs2033355	0.82[ASN][1000 genomes]
rs2116085	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2163374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163375	0.80[ASN][1000 genomes]
rs2421743	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2915177	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2915178	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915180	0.89[ASN][1000 genomes]
rs2915198	0.83[JPT][hapmap]
rs2915214	0.82[JPT][hapmap]
rs2915217	0.82[JPT][hapmap]
rs2915225	0.83[JPT][hapmap]
rs2915237	0.80[ASN][1000 genomes]
rs2915238	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941040	0.92[ASN][1000 genomes]
rs2941041	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941042	0.89[ASN][1000 genomes]
rs2941043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941044	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941045	0.85[ASN][1000 genomes]
rs2941054	0.86[ASN][1000 genomes]
rs2941055	0.85[ASN][1000 genomes]
rs2941056	0.89[ASN][1000 genomes]
rs2941057	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941058	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941059	0.82[ASN][1000 genomes]
rs2941060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2941061	0.86[ASN][1000 genomes]
rs2956074	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956077	0.83[JPT][hapmap]
rs2956078	0.90[ASN][1000 genomes]
rs2956079	0.80[ASN][1000 genomes]
rs2956080	0.86[ASN][1000 genomes]
rs2956086	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2956095	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs2956097	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2956112	0.82[CHB][hapmap]
rs2956116	0.82[JPT][hapmap]
rs2956125	0.83[JPT][hapmap]
rs2985150	0.83[JPT][hapmap]
rs2985382	0.83[JPT][hapmap]
rs2986403	0.83[JPT][hapmap]
rs2986406	0.83[JPT][hapmap]
rs2986408	0.83[JPT][hapmap]
rs2986413	0.83[JPT][hapmap]
rs2986421	0.83[JPT][hapmap]
rs520658	0.83[JPT][hapmap]
rs724714	0.82[JPT][hapmap]
rs7932442	0.85[EUR][1000 genomes]
rs984690	0.82[JPT][hapmap]

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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2915179	PDHX	Cis_1M	lymphoblastoid	RTeQTL
rs2915179	MMRP19	cis	multi-tissue	Pritchard
rs2915179	APIP	cis	Esophagus Muscularis	GTEx
rs2915179	APIP	cis	Thyroid	GTEx
rs2915179	APIP	cis	Artery Aorta	GTEx
rs2915179	APIP	cis	Heart Left Ventricle	GTEx
rs2915179	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs2915179	LOC728766///PRDM15	trans	lymphoblastoid	RTeQTL
rs2915179	APIP	cis	Nerve Tibial	GTEx
rs2915179	APIP	cis	lung	GTEx
rs2915179	APIP	cis	Artery Tibial	GTEx

Chromatin state (count:16 , 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	chr11:34871400-34872000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:34871400-34872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:34871600-34872000	Enhancers	Fetal Intestine Large	intestine
8	chr11:34871600-34872000	Enhancers	NHEK	skin
9	chr11:34871600-34872400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:34871600-34872400	Enhancers	Stomach Mucosa	stomach
11	chr11:34871600-34872600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr11:34871600-34875600	Weak transcription	Small Intestine	intestine
13	chr11:34871800-34872200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:34871800-34872200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:34871800-34872200	Enhancers	K562	blood
16	chr11:34871800-34872600	Enhancers	Duodenum Mucosa	Duodenum

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