Variant report

Variant	rs17142812
Chromosome Location	chr7:70651207-70651208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10250868	1.00[EUR][1000 genomes]
rs11980968	1.00[EUR][1000 genomes]
rs12667312	1.00[EUR][1000 genomes]
rs17142642	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17142771	0.86[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17142820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142826	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70642200-70651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:70642800-70651400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:70648000-70651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:70649400-70652200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70649600-70652800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:70650600-70652400	Enhancers	Fetal Lung	lung
7	chr7:70651000-70651600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:70651000-70651600	Enhancers	Fetal Heart	heart
9	chr7:70651000-70651800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:70651200-70651600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:70651200-70651600	Enhancers	Fetal Stomach	stomach
12	chr7:70651200-70651600	Enhancers	Left Ventricle	heart
13	chr7:70651200-70651800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:70651200-70651800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:70651200-70651800	Enhancers	Fetal Muscle Leg	muscle
16	chr7:70651200-70652000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:70651200-70656200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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