Variant report

Variant	rs35715970
Chromosome Location	chr7:66829729-66829730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66767680..66769369-chr7:66828164..66829951,2	K562	blood:
2	chr7:66827114..66829996-chr7:66851331..66853827,2	K562	blood:

Variant related genes	Relation type
ENSG00000067601	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11760794	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760843	0.95[ASN][1000 genomes]
rs11760899	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762397	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763894	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11768598	0.95[ASN][1000 genomes]
rs11769438	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11770307	0.92[ASN][1000 genomes]
rs11771920	0.94[ASN][1000 genomes]
rs11772041	0.97[ASN][1000 genomes]
rs11772331	0.97[ASN][1000 genomes]
rs11773173	0.97[ASN][1000 genomes]
rs12698575	0.97[ASN][1000 genomes]
rs13226941	0.97[ASN][1000 genomes]
rs13241524	0.97[ASN][1000 genomes]
rs13241865	0.97[ASN][1000 genomes]
rs17137359	0.97[ASN][1000 genomes]
rs1968150	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34037266	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34671876	0.97[ASN][1000 genomes]
rs35307336	0.92[ASN][1000 genomes]
rs35565843	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36146582	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236211	0.93[ASN][1000 genomes]
rs4590320	0.92[ASN][1000 genomes]
rs4717364	0.97[ASN][1000 genomes]
rs4718534	0.97[ASN][1000 genomes]
rs4718536	0.97[ASN][1000 genomes]
rs4718559	0.90[ASN][1000 genomes]
rs4718560	0.84[ASN][1000 genomes]
rs55777645	0.97[ASN][1000 genomes]
rs62466443	0.97[ASN][1000 genomes]
rs62467577	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6956666	0.97[ASN][1000 genomes]
rs6960865	0.97[ASN][1000 genomes]
rs6963583	0.97[ASN][1000 genomes]
rs71565103	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71565104	0.95[ASN][1000 genomes]
rs7341400	0.93[ASN][1000 genomes]
rs7786846	0.95[ASN][1000 genomes]
rs7788177	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7804093	0.95[ASN][1000 genomes]
rs887715	0.95[ASN][1000 genomes]
rs9443	0.97[ASN][1000 genomes]
rs956523	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031560	chr7:66805244-66846663	Enhancers Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022779	chr7:66805244-66849392	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1031147	chr7:66811313-66922350	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv966840	chr7:66821082-66833953	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1025049	chr7:66823977-66906930	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs35715970	STAG3L4	cis	lung	GTEx
rs35715970	STAG3L4	cis	Adipose Subcutaneous	GTEx
rs35715970	RP11-166O4.5	cis	Muscle Skeletal	GTEx
rs35715970	STAG3L4	cis	Muscle Skeletal	GTEx
rs35715970	TYW1	cis	Muscle Skeletal	GTEx
rs35715970	STAG3L4	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66810200-66830400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:66823000-66832200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:66823200-66832000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:66824200-66830000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:66825200-66830600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:66829400-66829800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:66829400-66829800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:66829400-66829800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:66829400-66830000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:66829400-66830000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:66829400-66830000	Enhancers	Placenta	Placenta
12	chr7:66829600-66829800	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:66829600-66829800	Flanking Active TSS	Right Ventricle	heart
14	chr7:66829600-66830000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:66829600-66830000	Active TSS	Left Ventricle	heart
16	chr7:66829600-66830200	Active TSS	HUES6 Cell Line	embryonic stem cell

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