Variant report

Variant	rs34750756
Chromosome Location	chr15:40837872-40837873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40837388..40839805-chr15:40855951..40859514,3	K562	blood:
2	chr15:40819960..40822875-chr15:40836988..40838852,2	K562	blood:
3	chr15:40837677..40839661-chr15:40843684..40846554,2	K562	blood:

Variant related genes	Relation type
ENSG00000223313	Chromatin interaction
ENSG00000128891	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1051482	0.82[EUR][1000 genomes]
rs10851396	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11070279	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070280	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11852479	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11852527	0.83[AMR][1000 genomes]
rs11855517	0.81[EUR][1000 genomes]
rs11857247	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12148185	0.85[EUR][1000 genomes]
rs12899408	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12906755	0.84[EUR][1000 genomes]
rs12907448	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12907984	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12908114	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12908443	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12908867	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12914501	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12915563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12916323	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1453183	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17746659	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17747399	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1901774	0.83[AMR][1000 genomes]
rs2123534	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412524	0.83[AMR][1000 genomes]
rs28798094	0.81[EUR][1000 genomes]
rs3213999	0.82[AMR][1000 genomes]
rs34303240	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35030447	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35884042	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36094699	0.81[EUR][1000 genomes]
rs36122190	0.86[AMR][1000 genomes]
rs3743146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3803353	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4457966	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55954396	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56384845	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61048252	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62018030	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62018046	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62018048	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62018051	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62019866	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62019883	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019934	0.81[EUR][1000 genomes]
rs7162749	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164385	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165054	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7181909	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733469	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs731640	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8025458	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028910	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8036938	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038396	0.85[EUR][1000 genomes]
rs8042733	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9806410	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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:21)

SNP	Gene	Cis/trans	Tissue	Source
rs34750756	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs34750756	RP11-111A22.1	cis	lung	GTEx
rs34750756	C15orf57	cis	Esophagus Mucosa	GTEx
rs34750756	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs34750756	CCDC32	cis	multi-tissue	Pritchard
rs34750756	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs34750756	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs34750756	C15orf57	cis	lung	GTEx
rs34750756	C15orf57	cis	Muscle Skeletal	GTEx
rs34750756	C15orf57	cis	Adipose Subcutaneous	GTEx
rs34750756	RP11-111A22.1	cis	Stomach	GTEx
rs34750756	C15orf57	cis	Nerve Tibial	GTEx
rs34750756	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs34750756	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs34750756	RP11-111A22.1	cis	Artery Aorta	GTEx
rs34750756	C15orf57	cis	Stomach	GTEx
rs34750756	C15orf57	cis	Esophagus Muscularis	GTEx
rs34750756	C15orf57	cis	Artery Aorta	GTEx
rs34750756	C15orf57	cis	Artery Tibial	GTEx
rs34750756	RP11-111A22.1	cis	Artery Tibial	GTEx
rs34750756	ZFYVE19	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40812600-40840600	Weak transcription	Hela-S3	cervix
2	chr15:40816800-40845600	Weak transcription	Ovary	ovary
3	chr15:40819600-40845000	Weak transcription	Pancreas	Pancrea
4	chr15:40821400-40848000	Weak transcription	Brain Anterior Caudate	brain
5	chr15:40821800-40840400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
8	chr15:40823200-40839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:40823800-40841800	Weak transcription	Brain Substantia Nigra	brain
10	chr15:40824800-40842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:40825600-40839400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:40825600-40840000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:40825800-40839200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:40825800-40839600	Weak transcription	NHEK	skin
15	chr15:40827600-40842000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:40827800-40839200	Weak transcription	Fetal Thymus	thymus
17	chr15:40828000-40856600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:40828400-40839200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:40828600-40839400	Weak transcription	HMEC	breast
20	chr15:40828600-40841600	Weak transcription	Colonic Mucosa	Colon
21	chr15:40828800-40839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:40828800-40839200	Weak transcription	Liver	Liver
23	chr15:40828800-40839200	Weak transcription	Esophagus	oesophagus
24	chr15:40828800-40839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:40829000-40841400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:40829200-40845200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:40829400-40839200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:40829400-40839600	Weak transcription	Fetal Brain Female	brain
29	chr15:40829400-40840800	Weak transcription	Fetal Lung	lung
30	chr15:40829400-40845000	Weak transcription	NHLF	lung
31	chr15:40829600-40839200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:40829600-40839600	Weak transcription	Right Atrium	heart
33	chr15:40829600-40840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:40829600-40840800	Weak transcription	Osteobl	bone
35	chr15:40829600-40845000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:40829600-40845200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:40829800-40839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:40829800-40839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:40829800-40839200	Weak transcription	Psoas Muscle	Psoas
40	chr15:40829800-40840800	Weak transcription	HSMMtube	muscle
41	chr15:40829800-40845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:40829800-40846000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:40830400-40839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:40830800-40839000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:40831600-40856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:40831800-40839200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:40831800-40839200	Weak transcription	Left Ventricle	heart
48	chr15:40831800-40839200	Weak transcription	Thymus	Thymus
49	chr15:40831800-40839400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:40831800-40843600	Weak transcription	Brain Inferior Temporal Lobe	brain

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