Variant report

Variant	rs56743403
Chromosome Location	chr3:53913205-53913206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1020082	0.92[EUR][1000 genomes]
rs1134091	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12632292	0.93[EUR][1000 genomes]
rs17053568	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17053590	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1982171	0.92[EUR][1000 genomes]
rs2241806	0.93[EUR][1000 genomes]
rs2276840	0.81[EUR][1000 genomes]
rs2276843	0.92[EUR][1000 genomes]
rs2276844	0.92[EUR][1000 genomes]
rs2276845	0.92[EUR][1000 genomes]
rs2289203	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304575	0.89[EUR][1000 genomes]
rs2304576	0.92[EUR][1000 genomes]
rs2884631	0.82[EUR][1000 genomes]
rs3017	0.82[EUR][1000 genomes]
rs3733075	0.81[EUR][1000 genomes]
rs3733079	0.90[EUR][1000 genomes]
rs3733083	0.91[EUR][1000 genomes]
rs3821868	0.81[EUR][1000 genomes]
rs3821869	0.82[EUR][1000 genomes]
rs41292476	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141606	0.90[EUR][1000 genomes]
rs45511795	0.93[EUR][1000 genomes]
rs4687594	0.93[EUR][1000 genomes]
rs4687753	0.82[EUR][1000 genomes]
rs4687756	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4687758	0.92[EUR][1000 genomes]
rs4687760	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55917919	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57398949	0.91[EUR][1000 genomes]
rs6445612	0.90[EUR][1000 genomes]
rs709324	0.82[EUR][1000 genomes]
rs73078007	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9840445	0.91[EUR][1000 genomes]
rs9849951	0.93[EUR][1000 genomes]
rs9850063	0.93[EUR][1000 genomes]
rs9860367	0.82[EUR][1000 genomes]
rs9880056	0.91[EUR][1000 genomes]
rs999515	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1010575	chr3:53846741-53934781	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv997771	chr3:53852695-53926635	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1002141	chr3:53858541-53934781	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56743403	SELK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53888400-53914600	Weak transcription	Stomach Mucosa	stomach
2	chr3:53889600-53913800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:53890800-53914600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:53891000-53914200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:53891000-53914200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr3:53891400-53914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:53892000-53914400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:53892200-53914000	Strong transcription	Adipose Nuclei	Adipose
9	chr3:53892200-53914400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:53892200-53914600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:53892400-53913800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:53892400-53914200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr3:53892400-53914400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:53892600-53914200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:53892600-53914400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:53892600-53914400	Strong transcription	Fetal Muscle Leg	muscle
17	chr3:53892800-53914200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:53892800-53914200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr3:53892800-53914200	Strong transcription	Thymus	Thymus
20	chr3:53892800-53914400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:53892800-53914600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:53893000-53914000	Strong transcription	Placenta	Placenta
23	chr3:53893000-53914400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:53893200-53914000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:53893200-53914200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:53893200-53914200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:53893200-53914200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:53893200-53914600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:53893400-53914200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:53894200-53914400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:53894400-53914000	Strong transcription	Primary T cells from cord blood	blood
32	chr3:53894400-53914400	Strong transcription	Fetal Thymus	thymus
33	chr3:53894800-53914200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr3:53894800-53914200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:53895000-53914000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr3:53895000-53914200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr3:53895000-53914400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:53895200-53914200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr3:53895200-53914200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:53895200-53914200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:53895400-53913800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:53895600-53914200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:53895800-53913800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:53896800-53914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:53897200-53914200	Strong transcription	Osteobl	bone
46	chr3:53897800-53914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:53898400-53914000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:53898600-53914200	Strong transcription	HMEC	breast
49	chr3:53898600-53914400	Strong transcription	Dnd41	blood
50	chr3:53898800-53914200	Strong transcription	Primary B cells from peripheral blood	blood

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