Variant report

Variant	rs34177389
Chromosome Location	chr1:76308097-76308098
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:76307960-76308110	HCT-116	colon:	n/a	n/a
2	CTCF	chr1:76307980-76308130	HCM	heart:	n/a	n/a
3	CTCF	chr1:76308000-76308150	RPTEC	kidney:	n/a	n/a
4	CTCF	chr1:76307960-76308110	GM12875	blood:	n/a	n/a
5	CTCF	chr1:76308000-76308150	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000266832	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10782556	0.82[ASN][1000 genomes]
rs10873724	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873727	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873728	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873735	0.82[ASN][1000 genomes]
rs10873738	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161602	0.81[ASN][1000 genomes]
rs11161688	0.80[AFR][1000 genomes]
rs11161700	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161704	0.95[ASN][1000 genomes]
rs11161718	0.82[AFR][1000 genomes]
rs11161790	0.90[ASN][1000 genomes]
rs11161795	0.90[ASN][1000 genomes]
rs1144328	0.94[ASN][1000 genomes]
rs1144331	0.95[ASN][1000 genomes]
rs1144333	0.95[ASN][1000 genomes]
rs1144337	0.95[ASN][1000 genomes]
rs1144338	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1144339	0.95[ASN][1000 genomes]
rs1144341	0.95[ASN][1000 genomes]
rs1144342	0.95[ASN][1000 genomes]
rs1146592	0.83[ASN][1000 genomes]
rs1146593	0.84[ASN][1000 genomes]
rs1146602	0.88[ASN][1000 genomes]
rs1146613	0.82[ASN][1000 genomes]
rs1146616	0.89[ASN][1000 genomes]
rs1146625	0.85[ASN][1000 genomes]
rs1146645	0.94[ASN][1000 genomes]
rs1146647	0.94[ASN][1000 genomes]
rs1146648	0.98[ASN][1000 genomes]
rs1146649	0.93[ASN][1000 genomes]
rs1146651	0.95[ASN][1000 genomes]
rs1146652	0.95[ASN][1000 genomes]
rs1146656	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11579355	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021750	0.82[ASN][1000 genomes]
rs12024086	0.90[ASN][1000 genomes]
rs12024645	0.82[ASN][1000 genomes]
rs12033058	0.82[ASN][1000 genomes]
rs12033059	0.82[ASN][1000 genomes]
rs12045363	0.82[ASN][1000 genomes]
rs12076093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12078151	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12081710	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12385715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12401729	0.91[ASN][1000 genomes]
rs12403889	0.91[ASN][1000 genomes]
rs12405178	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12407107	0.82[ASN][1000 genomes]
rs1250881	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250882	0.95[ASN][1000 genomes]
rs1251270	0.95[ASN][1000 genomes]
rs1251272	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1251273	0.95[ASN][1000 genomes]
rs1251274	0.95[ASN][1000 genomes]
rs1251275	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12564772	0.82[ASN][1000 genomes]
rs12703	0.94[ASN][1000 genomes]
rs12748900	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17097634	0.82[ASN][1000 genomes]
rs1767459	0.81[ASN][1000 genomes]
rs1770513	0.82[ASN][1000 genomes]
rs1812589	0.98[ASN][1000 genomes]
rs2012536	0.94[ASN][1000 genomes]
rs2131558	0.82[ASN][1000 genomes]
rs34045364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34486572	0.82[ASN][1000 genomes]
rs35591768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36054685	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737574	0.81[ASN][1000 genomes]
rs4347163	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4949884	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019550	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56350137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5745314	0.81[ASN][1000 genomes]
rs5745327	0.94[ASN][1000 genomes]
rs5745334	0.82[ASN][1000 genomes]
rs5745343	0.95[ASN][1000 genomes]
rs5745354	0.95[ASN][1000 genomes]
rs5745392	0.95[ASN][1000 genomes]
rs58552356	0.81[ASN][1000 genomes]
rs61676733	0.91[ASN][1000 genomes]
rs699683	0.80[ASN][1000 genomes]
rs7514912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525919	0.82[ASN][1000 genomes]
rs7548391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815309	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1004669	chr1:76301198-76409451	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv871671	chr1:76304215-76391646	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76306600-76308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76307000-76308800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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