Variant report

Variant	rs28701703
Chromosome Location	chr7:13870949-13870950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10234662	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10251265	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10256591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256596	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10265181	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10281229	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13437998	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1476661	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17677337	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4719381	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60050007	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7799675	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7800028	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7800240	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9886277	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9986808	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9986876	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking 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	6 gene(s)	inside rSNPs	diseases
2	nsv433032	chr7:13792450-13911001	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv887697	chr7:13841798-13899446	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2761122	chr7:13864009-13873812	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv13083	chr7:13866579-13871138	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv887699	chr7:13868601-13899446	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13862600-13871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:13868600-13871000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:13868800-13871000	Enhancers	NHDF-Ad	bronchial
4	chr7:13868800-13871400	Enhancers	Fetal Heart	heart
5	chr7:13868800-13873200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:13869600-13871000	Enhancers	Fetal Lung	lung
7	chr7:13869800-13871000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:13870200-13871000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:13870200-13871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:13870200-13873800	Weak transcription	HSMM	muscle
11	chr7:13870400-13871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:13870400-13873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:13870400-13873800	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:13870400-13874000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:13870600-13873600	Weak transcription	HSMMtube	muscle
16	chr7:13870800-13873400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:13870800-13873800	Weak transcription	Osteobl	bone

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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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