Variant report

Variant	rs35168772
Chromosome Location	chr2:149351228-149351229
allele	A/G
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	BRCA1	chr2:149351150-149351344	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr2:149350963-149351366	PANC-1	pancreas:	n/a	n/a
3	ZKSCAN1	chr2:149351168-149351321	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr2:149350718-149351503	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr2:149351156-149351346	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:149350954-149351274	Hela-S3	cervix:	n/a	n/a
7	EP300	chr2:149350919-149351372	Hela-S3	cervix:	n/a	n/a
8	HA-E2F1	chr2:149351148-149352152	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149349422..149353491-chr2:149401534..149405104,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232238	TF binding region
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1020468	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1031290	0.90[ASN][1000 genomes]
rs10454124	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10928404	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10928407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12464036	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12468186	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12472738	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12616115	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12619201	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12997473	0.89[EUR][1000 genomes]
rs12997838	0.92[EUR][1000 genomes]
rs13003132	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13004738	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13008203	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13010027	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13029692	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16828791	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16828816	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16828836	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16828954	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16828967	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829006	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16829034	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809051	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2382231	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34210886	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34324924	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34671855	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34881950	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35057193	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35076661	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35154707	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36067597	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972375	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972380	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4972381	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4972383	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6430323	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709767	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743835	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6746352	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71413623	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720844	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7571333	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7578059	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590549	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7597133	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606475	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930651	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930652	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149348600-149352000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:149350200-149352200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:149350400-149351600	Enhancers	NHEK	skin
4	chr2:149350400-149351800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:149350600-149352800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:149350800-149352200	Weak transcription	Placenta	Placenta

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