Variant report

Variant	rs13086215
Chromosome Location	chr3:150427673-150427674
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1131685	0.97[EUR][1000 genomes]
rs11714948	1.00[ASN][1000 genomes]
rs11719012	0.91[EUR][1000 genomes]
rs13063408	0.98[EUR][1000 genomes]
rs13065451	0.93[EUR][1000 genomes]
rs13068979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074103	0.98[EUR][1000 genomes]
rs13074670	0.98[EUR][1000 genomes]
rs13079739	0.83[EUR][1000 genomes]
rs13079755	0.91[EUR][1000 genomes]
rs13085974	0.94[EUR][1000 genomes]
rs13086267	0.94[EUR][1000 genomes]
rs13086869	0.95[EUR][1000 genomes]
rs13090897	0.98[EUR][1000 genomes]
rs17281287	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs1897494	0.98[EUR][1000 genomes]
rs2869477	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34587198	1.00[ASN][1000 genomes]
rs4571271	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007703	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13086215	FAM194A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150422000-150430400	Weak transcription	Spleen	Spleen
2	chr3:150422200-150428000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:150422200-150428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:150422200-150429800	Weak transcription	Pancreas	Pancrea
5	chr3:150422200-150439400	Weak transcription	Ovary	ovary
6	chr3:150422200-150443200	Weak transcription	Lung	lung
7	chr3:150422400-150428200	Weak transcription	Brain Anterior Caudate	brain
8	chr3:150422400-150428600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:150422400-150429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:150422400-150430000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:150422400-150434800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:150422400-150443000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:150422600-150427800	Weak transcription	Left Ventricle	heart
14	chr3:150422600-150428000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:150422600-150428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:150422600-150428200	Weak transcription	Aorta	Aorta
17	chr3:150422600-150428200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:150422600-150428200	Weak transcription	Osteobl	bone
19	chr3:150422600-150428600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:150422600-150429800	Weak transcription	Placenta	Placenta
21	chr3:150422600-150429800	Weak transcription	Thymus	Thymus
22	chr3:150422600-150431000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:150422600-150439200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:150422600-150439200	Weak transcription	Fetal Intestine Small	intestine
25	chr3:150422600-150439400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:150422600-150439400	Weak transcription	Adipose Nuclei	Adipose
27	chr3:150422600-150441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:150423200-150428200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:150423200-150430000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:150423200-150451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:150423400-150428400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:150423400-150429800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:150423400-150430000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:150423600-150439400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:150423800-150439400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:150425200-150429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:150425200-150429200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:150425200-150430000	Strong transcription	Primary T cells from cord blood	blood
39	chr3:150425600-150428000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:150426000-150429000	Weak transcription	A549	lung
41	chr3:150426000-150429400	Strong transcription	Fetal Thymus	thymus
42	chr3:150426000-150430400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:150426200-150428000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:150426400-150427800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:150426600-150429200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:150426800-150428800	Weak transcription	Gastric	stomach
47	chr3:150426800-150429800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:150427000-150428000	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:150427000-150429000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:150427000-150429200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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