Variant report

Variant	rs4644993
Chromosome Location	chr2:10379267-10379268
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16855971	0.87[ASN][1000 genomes]
rs1985757	0.85[ASN][1000 genomes]
rs2357469	0.86[ASN][1000 genomes]
rs2357471	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55832144	0.87[ASN][1000 genomes]
rs58576249	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60317589	0.86[ASN][1000 genomes]
rs6432077	0.87[ASN][1000 genomes]
rs6432079	0.98[ASN][1000 genomes]
rs7560884	0.88[ASN][1000 genomes]
rs759339	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759340	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7601250	0.88[ASN][1000 genomes]
rs7601679	0.86[ASN][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	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10373800-10380000	Weak transcription	Gastric	stomach
2	chr2:10374400-10380000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr2:10374800-10380400	Enhancers	Right Ventricle	heart
4	chr2:10375600-10381000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:10377000-10380400	Enhancers	Spleen	Spleen
6	chr2:10377400-10380000	Weak transcription	Stomach Mucosa	stomach
7	chr2:10379000-10379400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:10379200-10379600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr2:10379200-10380200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:10379200-10380800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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