Variant report

Variant	rs7181909
Chromosome Location	chr15:40835654-40835655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40823724..40825300-chr15:40835394..40836956,2	K562	blood:
2	chr15:40830175..40831767-chr15:40834513..40836446,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10851396	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070279	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070280	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11852479	0.81[EUR][1000 genomes]
rs11852527	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11857247	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899408	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12907448	0.82[EUR][1000 genomes]
rs12907984	0.82[EUR][1000 genomes]
rs12908114	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12908867	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12914501	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12915563	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12916323	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1453183	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17746659	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17747399	0.82[EUR][1000 genomes]
rs1901774	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2123534	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2412524	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3213999	0.88[EUR][1000 genomes]
rs34303240	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34750756	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030447	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35884042	0.81[EUR][1000 genomes]
rs36122190	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3743146	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3803353	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4457966	0.80[EUR][1000 genomes]
rs55954396	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56384845	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61048252	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62018030	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62018046	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62018048	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018051	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62019866	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62019883	0.83[EUR][1000 genomes]
rs7162749	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164385	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165054	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72733469	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs731640	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs733299	0.87[EUR][1000 genomes]
rs8025458	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028910	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8036938	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042733	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9806410	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs999197	0.81[AMR][1000 genomes];0.87[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7181909	C15orf57	cis	lung	GTEx
rs7181909	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs7181909	ZFYVE19	cis	multi-tissue	Pritchard
rs7181909	C15orf57	cis	Artery Tibial	GTEx
rs7181909	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs7181909	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs7181909	CCDC32	cis	multi-tissue	Pritchard
rs7181909	RP11-111A22.1	cis	lung	GTEx
rs7181909	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs7181909	C15orf57	cis	Esophagus Muscularis	GTEx
rs7181909	RP11-111A22.1	cis	Artery Tibial	GTEx
rs7181909	C15orf57	cis	Nerve Tibial	GTEx
rs7181909	C15orf57	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40812400-40837800	Weak transcription	Lung	lung
2	chr15:40812600-40840600	Weak transcription	Hela-S3	cervix
3	chr15:40816800-40845600	Weak transcription	Ovary	ovary
4	chr15:40819600-40845000	Weak transcription	Pancreas	Pancrea
5	chr15:40821400-40836800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:40821400-40848000	Weak transcription	Brain Anterior Caudate	brain
7	chr15:40821800-40840400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
10	chr15:40823200-40839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:40823800-40841800	Weak transcription	Brain Substantia Nigra	brain
12	chr15:40824800-40842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:40825000-40836200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:40825600-40839400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:40825600-40840000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:40825800-40839200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:40825800-40839600	Weak transcription	NHEK	skin
18	chr15:40827600-40842000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:40827800-40839200	Weak transcription	Fetal Thymus	thymus
20	chr15:40828000-40836200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:40828000-40856600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:40828400-40839200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:40828600-40839400	Weak transcription	HMEC	breast
24	chr15:40828600-40841600	Weak transcription	Colonic Mucosa	Colon
25	chr15:40828800-40839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:40828800-40839200	Weak transcription	Liver	Liver
27	chr15:40828800-40839200	Weak transcription	Esophagus	oesophagus
28	chr15:40828800-40839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:40829000-40841400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:40829200-40845200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:40829400-40839200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:40829400-40839600	Weak transcription	Fetal Brain Female	brain
33	chr15:40829400-40840800	Weak transcription	Fetal Lung	lung
34	chr15:40829400-40845000	Weak transcription	NHLF	lung
35	chr15:40829600-40835800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:40829600-40839200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:40829600-40839600	Weak transcription	Right Atrium	heart
38	chr15:40829600-40840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:40829600-40840800	Weak transcription	Osteobl	bone
40	chr15:40829600-40845000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:40829600-40845200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:40829800-40839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:40829800-40839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:40829800-40839200	Weak transcription	Psoas Muscle	Psoas
45	chr15:40829800-40840800	Weak transcription	HSMMtube	muscle
46	chr15:40829800-40845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:40829800-40846000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:40830400-40839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:40830800-40839000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:40831200-40835800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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