Variant report

Variant	rs35591768
Chromosome Location	chr1:76308257-76308258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:76308251-76308519	Gliobla	brain:	n/a	n/a
2	CTCF	chr1:76308120-76308270	HVMF	connective:	n/a	n/a
3	CTCF	chr1:76308140-76308290	GM12874	blood:	n/a	n/a
4	RAD21	chr1:76308231-76308435	IMR90	lung:	n/a	n/a
5	RAD21	chr1:76308245-76308436	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:76308232-76308456	GM12878	blood:	n/a	n/a
7	CTCF	chr1:76308240-76308390	GM12871	blood:	n/a	n/a
8	RAD21	chr1:76308234-76308589	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:76308257-76308480	K562	blood:	n/a	n/a
10	RAD21	chr1:76308236-76308558	HepG2	liver:	n/a	n/a
11	SMC3	chr1:76308237-76308586	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:76308120-76308270	HCT-116	colon:	n/a	n/a
13	CTCF	chr1:76308120-76308270	GM12865	blood:	n/a	n/a
14	CTCF	chr1:76308120-76308270	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr1:76308120-76308270	NB4	blood:	n/a	n/a
16	RAD21	chr1:76308233-76308569	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr1:76308165-76308490	K562	blood:	n/a	n/a
18	CTCF	chr1:76308120-76308270	HAc	cerebellar:	n/a	n/a
19	RAD21	chr1:76308237-76308448	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:76308120-76308270	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:76308223-76308462	IMR90	lung:	n/a	n/a
22	CTCF	chr1:76308254-76308456	A549	lung:	n/a	n/a
23	CTCF	chr1:76308120-76308270	HCM	heart:	n/a	n/a
24	CTCF	chr1:76308180-76308546	K562	blood:	n/a	n/a
25	CTCF	chr1:76308120-76308270	HFF	foreskin:	n/a	n/a
26	SMC3	chr1:76308248-76308430	K562	blood:	n/a	n/a
27	CTCF	chr1:76308230-76308525	A549	lung:	n/a	n/a
28	CTCF	chr1:76308240-76308390	HPF	lung:	n/a	n/a
29	RAD21	chr1:76308246-76308488	HepG2	liver:	n/a	n/a
30	CTCF	chr1:76308221-76308573	K562	blood:	n/a	n/a
31	ZNF143	chr1:76308251-76308432	K562	blood:	n/a	n/a
32	CTCF	chr1:76308120-76308270	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr1:76308221-76308464	K562	blood:	n/a	n/a
34	RAD21	chr1:76308237-76308457	HepG2	liver:	n/a	n/a
35	CTCF	chr1:76308120-76308270	AG04450	lung:	n/a	n/a
36	CTCF	chr1:76308120-76308270	AG09309	skin:	n/a	n/a
37	ZNF143	chr1:76308247-76308452	GM12878	blood:	n/a	n/a
38	RAD21	chr1:76308252-76308453	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873727	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873728	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.99[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];0.97[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];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11579355	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12078151	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12081710	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12385715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.99[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];0.86[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];0.97[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];0.92[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34486572	0.82[ASN][1000 genomes]
rs36054685	0.97[AMR][1000 genomes];0.99[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];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4949884	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019550	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56350137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.98[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];0.99[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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76307000-76308800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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