Variant report

Variant	rs56712156
Chromosome Location	chr15:77127149-77127150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11072614	0.80[ASN][1000 genomes]
rs11072632	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632365	0.97[ASN][1000 genomes]
rs11634428	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11635998	0.84[EUR][1000 genomes]
rs35556030	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4886827	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs56712156	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs56712156	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs56712156	SCAPER	cis	Whole Blood	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77111600-77141200	Weak transcription	Thymus	Thymus
2	chr15:77111600-77144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:77111600-77174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:77111800-77141600	Weak transcription	Fetal Thymus	thymus
5	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:77115400-77144600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:77116800-77141400	Weak transcription	Lung	lung
8	chr15:77116800-77144000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:77120400-77132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:77120400-77158400	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:77120600-77129400	Weak transcription	Brain Substantia Nigra	brain
12	chr15:77120800-77143400	Weak transcription	Adipose Nuclei	Adipose
13	chr15:77122000-77141600	Weak transcription	Gastric	stomach
14	chr15:77123000-77141600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:77123200-77136400	Weak transcription	NHEK	skin
16	chr15:77123200-77144800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:77123200-77153200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:77123600-77127600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:77123600-77141200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:77123800-77141400	Weak transcription	Right Ventricle	heart
21	chr15:77124400-77149600	Weak transcription	HepG2	liver
22	chr15:77125200-77129600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:77125200-77133200	Weak transcription	Fetal Stomach	stomach
24	chr15:77125200-77141400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:77125200-77141400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:77125600-77141400	Weak transcription	Primary T cells from cord blood	blood
27	chr15:77125600-77142600	Weak transcription	Ovary	ovary
28	chr15:77125800-77175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:77126000-77127400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:77126000-77139000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:77126000-77141400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:77126000-77141400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr15:77126000-77141400	Weak transcription	Fetal Intestine Small	intestine
34	chr15:77126000-77141400	Weak transcription	Dnd41	blood
35	chr15:77126000-77142000	Weak transcription	Primary B cells from cord blood	blood
36	chr15:77126000-77145600	Weak transcription	Aorta	Aorta
37	chr15:77126200-77141800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:77126400-77141600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr15:77126400-77143000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:77127000-77127600	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr15:77127000-77142200	Weak transcription	Primary T cells fromperipheralblood	blood

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