Variant report

Variant	rs2141284
Chromosome Location	chr4:99704167-99704168
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:7)

rs_ID	r²[population]
rs1813867	1.00[ASN][1000 genomes]
rs1919208	1.00[ASN][1000 genomes]
rs4699663	1.00[ASN][1000 genomes]
rs59258663	1.00[ASN][1000 genomes]
rs62325470	1.00[AMR][1000 genomes]
rs6822225	1.00[ASN][1000 genomes]
rs72908131	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99694000-99710600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99700600-99706000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:99700800-99706200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:99701200-99705400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:99702000-99705400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:99702000-99716200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:99702200-99704600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:99702200-99708200	Weak transcription	K562	blood
9	chr4:99703600-99704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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