Variant report

Variant	rs730956
Chromosome Location	chr7:26574973-26574974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12534452	0.91[GIH][hapmap]
rs17153818	1.00[JPT][hapmap]
rs17153822	0.91[GIH][hapmap]
rs17153830	0.91[GIH][hapmap]
rs17153845	1.00[JPT][hapmap]
rs17153862	1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17154295	1.00[JPT][hapmap]
rs34577165	1.00[ASN][1000 genomes]
rs34784196	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35682591	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740181	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26571000-26578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:26572400-26576200	Enhancers	Fetal Kidney	kidney
3	chr7:26574200-26575000	Enhancers	Fetal Heart	heart
4	chr7:26574200-26575600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr7:26574200-26575800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:26574200-26577600	Enhancers	Fetal Thymus	thymus
7	chr7:26574200-26579000	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:26574200-26579400	Enhancers	Thymus	Thymus
9	chr7:26574400-26575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:26574400-26575800	Enhancers	Brain Germinal Matrix	brain
11	chr7:26574400-26576200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:26574600-26575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:26574600-26576000	Enhancers	Fetal Stomach	stomach
14	chr7:26574800-26575000	Enhancers	Fetal Muscle Leg	muscle
15	chr7:26574800-26575200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:26574800-26575400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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