Variant report

Variant	rs57579941
Chromosome Location	chr2:96336253-96336254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11164049	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164050	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676901	0.89[EUR][1000 genomes]
rs11679899	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680743	0.84[EUR][1000 genomes]
rs11682182	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11688743	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11694151	0.97[EUR][1000 genomes]
rs12478605	0.91[EUR][1000 genomes]
rs1834135	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2320170	0.83[EUR][1000 genomes]
rs3813663	0.89[EUR][1000 genomes]
rs4062891	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4907273	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4907274	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	43 gene(s)	inside rSNPs	diseases
3	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv834301	chr2:96285762-96427246	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv18352	chr2:96291856-96391581	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1002700	chr2:96296630-96422939	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv874661	chr2:96334397-96459313	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv874662	chr2:96334397-96578621	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57579941	AC008268.1	cis	lung	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96328200-96336400	Weak transcription	Right Atrium	heart
2	chr2:96330600-96336600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:96331800-96338800	Enhancers	Fetal Thymus	thymus
4	chr2:96333400-96336800	Enhancers	Dnd41	blood
5	chr2:96333400-96338000	Enhancers	Thymus	Thymus
6	chr2:96334200-96336400	Weak transcription	HMEC	breast
7	chr2:96334600-96336600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:96334600-96336800	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:96334600-96337000	Enhancers	Primary B cells from cord blood	blood
10	chr2:96334600-96337400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:96334600-96338600	Enhancers	NHDF-Ad	bronchial
12	chr2:96335200-96336800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:96335200-96337200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:96335200-96337200	Enhancers	Osteobl	bone
15	chr2:96335200-96337400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:96335200-96338000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:96335400-96336400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:96335400-96336800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:96335400-96336800	Enhancers	HSMM	muscle
20	chr2:96335400-96336800	Enhancers	NH-A	brain
21	chr2:96335400-96337000	Enhancers	NHLF	lung
22	chr2:96335400-96340600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:96335800-96337000	Enhancers	HSMMtube	muscle
24	chr2:96335800-96337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:96335800-96337400	Enhancers	Placenta	Placenta
26	chr2:96335800-96338400	Enhancers	Fetal Lung	lung
27	chr2:96335800-96338800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:96336000-96337000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:96336000-96337000	Enhancers	NHEK	skin
30	chr2:96336000-96337600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:96336200-96336400	Enhancers	Fetal Intestine Small	intestine
32	chr2:96336200-96336800	Enhancers	Adipose Nuclei	Adipose
33	chr2:96336200-96337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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