Variant report

Variant	rs62466433
Chromosome Location	chr7:66791598-66791599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12530786	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531602	0.81[ASN][1000 genomes]
rs12532084	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534602	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534872	0.84[EUR][1000 genomes]
rs12535489	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12535715	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537527	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537772	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17140742	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17144955	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17145211	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17786435	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2277021	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41533347	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717368	0.86[EUR][1000 genomes]
rs4717374	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4717380	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718526	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718552	0.83[ASN][1000 genomes]
rs56878889	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58131305	0.82[EUR][1000 genomes]
rs58757717	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60593769	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61657086	0.93[ASN][1000 genomes]
rs62466398	0.81[EUR][1000 genomes]
rs62466401	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62466404	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62466442	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466449	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62466450	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62466451	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62467568	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62467572	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62467573	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62467574	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62467575	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62467578	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62467579	0.86[EUR][1000 genomes];0.83[ASN][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv970873	chr7:66785229-66793852	Weak transcription Strong transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62466433	FLJ13195	Cis_1M	lymphoblastoid	RTeQTL
rs62466433	STAG3L4	cis	Artery Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66775200-66807600	Weak transcription	Colonic Mucosa	Colon
2	chr7:66777200-66805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:66778800-66809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:66779800-66807600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:66780400-66791800	Weak transcription	Fetal Lung	lung
6	chr7:66780400-66804600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:66780400-66808200	Weak transcription	GM12878-XiMat	blood
8	chr7:66780400-66809400	Weak transcription	A549	lung
9	chr7:66781200-66804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:66781400-66792200	Weak transcription	Brain Germinal Matrix	brain
11	chr7:66781400-66810200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:66782600-66804600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:66782800-66791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:66782800-66804400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:66782800-66804400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:66782800-66809400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:66783000-66792000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:66783000-66804400	Weak transcription	Left Ventricle	heart
19	chr7:66783000-66804600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:66784600-66804400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:66784800-66804400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:66785000-66792200	Weak transcription	Fetal Brain Female	brain
23	chr7:66785000-66793200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:66785000-66804400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:66785000-66804400	Weak transcription	Fetal Intestine Small	intestine
26	chr7:66785000-66804400	Weak transcription	Fetal Stomach	stomach
27	chr7:66785200-66793000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:66785200-66804400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:66785200-66804400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:66785400-66792200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:66785400-66804600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:66785400-66804600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:66785400-66804800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:66785600-66804400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:66785600-66804600	Weak transcription	Placenta	Placenta
36	chr7:66785600-66804800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:66785600-66804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:66785600-66804800	Weak transcription	Brain Anterior Caudate	brain
39	chr7:66785800-66808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:66785800-66816200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:66786000-66804400	Weak transcription	Fetal Intestine Large	intestine
42	chr7:66786000-66804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:66786000-66809400	Weak transcription	Dnd41	blood
44	chr7:66786200-66804400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:66786200-66804400	Weak transcription	Adipose Nuclei	Adipose
46	chr7:66786200-66804400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:66786200-66804600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:66786200-66804600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:66786200-66806600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:66786200-66809400	Weak transcription	Monocytes-CD14+_RO01746	blood

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