Variant report

Variant	rs35789417
Chromosome Location	chr4:119112057-119112058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12506555	0.94[EUR][1000 genomes]
rs12509230	0.94[EUR][1000 genomes]
rs17626497	0.94[EUR][1000 genomes]
rs3107483	0.94[EUR][1000 genomes]
rs35159999	0.94[EUR][1000 genomes]
rs55747202	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs609512	0.94[EUR][1000 genomes]
rs611659	0.94[EUR][1000 genomes]
rs615517	0.94[EUR][1000 genomes]
rs617430	0.94[EUR][1000 genomes]
rs623035	0.89[EUR][1000 genomes]
rs631271	0.92[EUR][1000 genomes]
rs633398	0.94[EUR][1000 genomes]
rs640713	0.94[EUR][1000 genomes]
rs658642	0.89[EUR][1000 genomes]
rs662581	0.94[EUR][1000 genomes]
rs673682	0.94[EUR][1000 genomes]
rs687492	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs705837	0.81[EUR][1000 genomes]
rs788646	0.82[EUR][1000 genomes]
rs788663	0.94[EUR][1000 genomes]
rs788666	0.87[EUR][1000 genomes]
rs788667	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv4485	chr4:119103349-119144334	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3524414	chr4:119106398-119131703	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
11	esv3524415	chr4:119106398-119131703	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs35789417	SNHG8	cis	Thyroid	GTEx
rs35789417	SNHG8	cis	Muscle Skeletal	GTEx
rs35789417	SNHG8	cis	Skin Sun Exposed Lower leg	GTEx
rs35789417	SNHG8	cis	Heart Left Ventricle	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119105200-119117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:119110600-119114600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:119111600-119112200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:119111600-119112200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:119111600-119112800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:119111600-119113200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:119111600-119113600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:119111600-119114000	Strong transcription	Dnd41	blood
9	chr4:119111800-119112400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:119111800-119112600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:119111800-119113200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:119111800-119113400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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