Variant report

Variant	rs61303774
Chromosome Location	chr3:46471979-46471980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2073493	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213480	0.99[ASN][1000 genomes]
rs34390431	0.81[ASN][1000 genomes]
rs7650157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46460200-46477000	Weak transcription	Pancreas	Pancrea
4	chr3:46461800-46477000	Weak transcription	Gastric	stomach
5	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
6	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart
7	chr3:46467200-46474600	Weak transcription	Spleen	Spleen
8	chr3:46467400-46472200	Enhancers	NHEK	skin
9	chr3:46468000-46472200	Enhancers	Fetal Intestine Large	intestine
10	chr3:46468600-46472200	Enhancers	Fetal Intestine Small	intestine
11	chr3:46469000-46474400	Weak transcription	Primary T cells from cord blood	blood
12	chr3:46469600-46472200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:46469800-46477200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:46470000-46472000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:46470600-46472000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:46470600-46472200	Enhancers	HMEC	breast
17	chr3:46471000-46472800	Weak transcription	Placenta	Placenta
18	chr3:46471400-46472600	Weak transcription	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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