Variant report

Variant	rs2108717
Chromosome Location	chr7:39508061-39508062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10233706	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10261375	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12533673	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2024104	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2052017	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2052018	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2052019	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2282915	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4720324	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723864	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4723865	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6960142	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs763894	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs885689	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39504200-39508400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:39505000-39508400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:39505000-39512800	Weak transcription	Fetal Kidney	kidney
4	chr7:39505200-39508400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:39505800-39508400	Weak transcription	Fetal Thymus	thymus
6	chr7:39507800-39508600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:39507800-39508600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:39507800-39508600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:39507800-39509000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:39507800-39509000	Enhancers	Dnd41	blood
11	chr7:39508000-39508800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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