Variant report

Variant	rs12903586
Chromosome Location	chr15:77168240-77168241
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	chr15:77164850..77168974-chr15:77171197..77173807,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10851892	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072636	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072637	0.89[ASN][1000 genomes]
rs11635584	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11637296	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12050866	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12903331	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909065	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1567671	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280194	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2404600	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34450864	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35940181	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812908	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3812909	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886506	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886840	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886842	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55817928	0.83[ASN][1000 genomes]
rs56275930	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495224	0.86[ASN][1000 genomes]
rs907593	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs907594	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9707794	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1803942	chr15:77151005-77210457	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs12903586	SCAPER	cis	Nerve Tibial	GTEx
rs12903586	SCAPER	cis	Esophagus Mucosa	GTEx
rs12903586	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs12903586	SCAPER	cis	Artery Tibial	GTEx
rs12903586	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs12903586	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs12903586	SCAPER	cis	Stomach	GTEx
rs12903586	SCAPER	cis	Thyroid	GTEx
rs12903586	SCAPER	cis	Adipose Subcutaneous	GTEx
rs12903586	SCAPER	cis	lung	GTEx
rs12903586	SCAPER	cis	Whole Blood	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77111600-77174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:77125800-77175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:77133200-77196800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:77140800-77195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:77141400-77171600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:77142000-77175800	Weak transcription	Fetal Brain Male	brain
8	chr15:77142000-77195800	Weak transcription	Right Ventricle	heart
9	chr15:77144800-77179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:77146200-77175400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:77146400-77196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:77147800-77173800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:77147800-77177200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:77148200-77169200	Weak transcription	Primary B cells from cord blood	blood
15	chr15:77148200-77175200	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:77148400-77174800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:77148600-77195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:77148800-77181000	Weak transcription	Fetal Kidney	kidney
19	chr15:77148800-77195600	Weak transcription	Dnd41	blood
20	chr15:77151600-77171800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:77153600-77170000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:77154400-77179600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:77156200-77171000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:77156400-77176400	Weak transcription	Psoas Muscle	Psoas
25	chr15:77158200-77174000	Weak transcription	Brain Anterior Caudate	brain
26	chr15:77158600-77175400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:77158600-77179800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:77158600-77180600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:77158600-77190800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:77158800-77175400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:77158800-77177800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:77158800-77195600	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:77158800-77195600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:77159400-77176800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:77161400-77188800	Weak transcription	Fetal Heart	heart
36	chr15:77161800-77174400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:77163600-77173400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:77164400-77173400	Weak transcription	Fetal Thymus	thymus
39	chr15:77164800-77172400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:77164800-77173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr15:77166000-77168600	Strong transcription	Fetal Intestine Large	intestine
42	chr15:77166000-77169600	Strong transcription	Fetal Intestine Small	intestine
43	chr15:77166200-77168600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:77166200-77168800	Strong transcription	Fetal Stomach	stomach
45	chr15:77166200-77175400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:77166400-77168600	Strong transcription	Thymus	Thymus
47	chr15:77166800-77168600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:77166800-77169000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:77166800-77171400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr15:77166800-77177800	Weak transcription	Placenta Amnion	Placenta Amnion

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