Variant report

Variant	rs1922514
Chromosome Location	chr7:70812941-70812942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10249102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10269114	1.00[AMR][1000 genomes]
rs10273950	1.00[AMR][1000 genomes]
rs10950256	1.00[AMR][1000 genomes]
rs13236986	1.00[AMR][1000 genomes]
rs1882570	1.00[AMR][1000 genomes]
rs2707424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7787249	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7791172	1.00[AMR][1000 genomes]
rs7807116	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9638623	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70805000-70813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:70805200-70813400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:70805600-70813200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:70805600-70813200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:70808200-70813400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:70808600-70813800	Weak transcription	Fetal Brain Male	brain
7	chr7:70809400-70813200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:70810600-70813800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70810600-70813800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:70810800-70813600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:70812400-70815400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:70812600-70814200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:70812600-70814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:70812600-70814600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70812600-70814800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:70812800-70813200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:70812800-70813400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:70812800-70813800	Weak transcription	Pancreas	Pancrea
19	chr7:70812800-70814400	Enhancers	HUES6 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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