Variant report

Variant	rs61377059
Chromosome Location	chr2:40578440-40578441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55773267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56281318	1.00[AFR][1000 genomes]
rs72939995	0.85[AMR][1000 genomes]
rs72941959	0.87[AMR][1000 genomes]
rs72943169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926619	0.84[AFR][1000 genomes];1.00[AMR][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873914	chr2:40573350-40586022	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv516330	chr2:40576347-40579948	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:40574000-40579600	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:40574600-40579400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:40574600-40579600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40574600-40580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:40574600-40580000	Weak transcription	Left Ventricle	heart
10	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
12	chr2:40574800-40579600	Weak transcription	Dnd41	blood
13	chr2:40576000-40579800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:40576000-40579800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:40576200-40578800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:40576400-40578800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:40576400-40579800	Weak transcription	Right Ventricle	heart
18	chr2:40576600-40578800	Weak transcription	HSMMtube	muscle
19	chr2:40576600-40579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:40576800-40578600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:40576800-40578600	Weak transcription	Fetal Heart	heart
22	chr2:40576800-40578600	Weak transcription	Osteobl	bone
23	chr2:40576800-40578800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:40576800-40578800	Weak transcription	HMEC	breast
25	chr2:40576800-40579200	Weak transcription	NHLF	lung
26	chr2:40576800-40579800	Weak transcription	Right Atrium	heart
27	chr2:40576800-40587600	Weak transcription	NH-A	brain
28	chr2:40577600-40579800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:40578200-40581200	Enhancers	HSMM	muscle
30	chr2:40578400-40579800	Enhancers	Hela-S3	cervix
31	chr2:40578400-40580600	Enhancers	NHDF-Ad	bronchial
32	chr2:40578400-40581000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:40578400-40582000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:40578400-40583400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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