Variant report

Variant	rs12617082
Chromosome Location	chr2:40499049-40499050
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12620385	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17025712	0.84[EUR][1000 genomes]
rs72796660	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7571709	0.86[AFR][1000 genomes]
rs7607333	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40478800-40499600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:40487600-40499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40487600-40503200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:40487600-40505600	Weak transcription	HSMM	muscle
5	chr2:40487800-40499800	Weak transcription	Osteobl	bone
6	chr2:40487800-40502600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:40488200-40506200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:40488600-40502800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:40492000-40501600	Enhancers	Fetal Intestine Small	intestine
10	chr2:40492000-40501800	Enhancers	Fetal Intestine Large	intestine
11	chr2:40493800-40499600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:40497600-40500000	Enhancers	Fetal Kidney	kidney
13	chr2:40497600-40505200	Enhancers	Fetal Heart	heart
14	chr2:40498000-40501000	Weak transcription	Aorta	Aorta
15	chr2:40498000-40501000	Weak transcription	Right Atrium	heart
16	chr2:40498200-40499800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:40498200-40501000	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:40498200-40501400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:40498200-40501400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40498400-40509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:40498600-40499600	Weak transcription	Left Ventricle	heart
22	chr2:40498600-40502800	Weak transcription	Right Ventricle	heart

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