Variant report

Variant	rs2370983
Chromosome Location	chr14:79903376-79903377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10130216	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1865719	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003615	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs2007924	0.80[CHB][hapmap]
rs2011312	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4492980	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899746	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903857	0.85[YRI][hapmap]
rs4903859	0.90[CHB][hapmap];0.81[JPT][hapmap];0.97[ASN][1000 genomes]
rs61295692	0.96[ASN][1000 genomes]
rs6574507	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141420	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs7159565	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003893	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012110	0.85[CHB][hapmap]

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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530072	chr14:79769657-79928269	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity	23563607	GWAS catalog

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79901800-79904800	Enhancers	Stomach Smooth Muscle	stomach
2	chr14:79902200-79903400	Enhancers	Colon Smooth Muscle	Colon
3	chr14:79902400-79903400	Enhancers	Fetal Stomach	stomach
4	chr14:79902400-79903600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:79902800-79904600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:79902800-79906800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:79903000-79903400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr14:79903000-79903400	Enhancers	HSMMtube	muscle
9	chr14:79903000-79904200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:79903000-79904200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:79903000-79904600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:79903200-79903400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:79903200-79903600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:79903200-79904800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:79903200-79905600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:79903200-79906800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:79903200-79908600	Weak transcription	Rectal Smooth Muscle	rectum

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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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