Variant report

Variant	rs28891195
Chromosome Location	chr15:40971802-40971803
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	chr15:40950840..40952962-chr15:40970003..40972550,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10518697	0.83[AMR][1000 genomes]
rs11070283	0.81[AMR][1000 genomes]
rs12148915	0.85[AMR][1000 genomes]
rs12385982	0.81[AMR][1000 genomes]
rs12441754	0.81[AMR][1000 genomes]
rs12442560	0.84[AMR][1000 genomes]
rs12591044	0.85[AMR][1000 genomes]
rs12592524	0.82[AMR][1000 genomes]
rs12903817	0.93[AMR][1000 genomes]
rs12907442	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12908316	0.85[AMR][1000 genomes]
rs12915636	0.81[AMR][1000 genomes]
rs17674454	0.81[AMR][1000 genomes]
rs17747423	0.81[AMR][1000 genomes]
rs17747633	0.81[AMR][1000 genomes]
rs1801321	0.85[AMR][1000 genomes]
rs2619682	0.82[AMR][1000 genomes]
rs28866515	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34305357	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34739056	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35127391	0.83[AMR][1000 genomes]
rs35684277	0.90[AMR][1000 genomes]
rs4923880	0.85[AMR][1000 genomes]
rs4924486	0.85[AMR][1000 genomes]
rs4924492	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4924496	0.81[AMR][1000 genomes]
rs4924502	0.81[AMR][1000 genomes]
rs5030789	0.84[AMR][1000 genomes]
rs59244061	0.83[AMR][1000 genomes]
rs71471880	0.90[AMR][1000 genomes]
rs7165509	0.90[AMR][1000 genomes]
rs7175747	0.93[AMR][1000 genomes]
rs7176245	0.81[AMR][1000 genomes]
rs7176590	0.86[AMR][1000 genomes]
rs7177265	0.85[AMR][1000 genomes]
rs7180135	0.81[AMR][1000 genomes]
rs7182499	0.82[AMR][1000 genomes]
rs8029530	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8036891	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8037180	0.90[AMR][1000 genomes]
rs8038122	0.85[AMR][1000 genomes]
rs8042386	0.90[AMR][1000 genomes]
rs957603	0.86[AMR][1000 genomes]
rs9920676	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv529030	chr15:40956471-41012695	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv904100	chr15:40959624-40994706	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs28891195	RP11-111A22.1	cis	lung	GTEx
rs28891195	RAD51	Cis_1M	lymphoblastoid	RTeQTL
rs28891195	C15orf57	cis	lung	GTEx
rs28891195	C15orf57	cis	Adipose Subcutaneous	GTEx
rs28891195	C15orf57	cis	Artery Tibial	GTEx
rs28891195	C15orf57	cis	Nerve Tibial	GTEx
rs28891195	RP11-111A22.1	cis	Artery Tibial	GTEx
rs28891195	C15orf57	cis	Artery Aorta	GTEx
rs28891195	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs28891195	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs28891195	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs28891195	C15orf57	cis	Muscle Skeletal	GTEx
rs28891195	C15orf57	cis	Esophagus Muscularis	GTEx
rs28891195	C15orf57	cis	Stomach	GTEx
rs28891195	C15orf57	cis	Esophagus Mucosa	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40913800-40986000	Weak transcription	A549	lung
2	chr15:40945000-40984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40950000-40981200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:40955200-40976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:40955200-40983200	Weak transcription	Fetal Intestine Small	intestine
6	chr15:40955800-40976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:40958600-40981000	Weak transcription	Thymus	Thymus
8	chr15:40960400-40977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:40971200-40973600	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:40971200-40985800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:40971400-40977400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:40971400-40981000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:40971600-40972400	Weak transcription	Primary B cells from cord blood	blood
14	chr15:40971600-40972400	Enhancers	Placenta	Placenta
15	chr15:40971600-40984000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:40971600-40984200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:40971600-40985600	Weak transcription	Dnd41	blood
18	chr15:40971600-40985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:40971800-40972200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:40971800-40972800	Enhancers	HepG2	liver
21	chr15:40971800-40982400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:40971800-40983800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:40971800-40984000	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:40971800-40984200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:40971800-40985800	Weak transcription	Brain Angular Gyrus	brain

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