Variant report

Variant	rs4521035
Chromosome Location	chr2:234612690-234612691
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234474897..234476429-chr2:234612353..234614313,2	MCF-7	breast:
2	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
3	chr2:234398388..234400630-chr2:234610958..234612928,2	MCF-7	breast:
4	chr2:234610804..234613588-chr2:234613696..234615763,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10179091	0.81[ASN][1000 genomes]
rs10929301	0.81[ASN][1000 genomes]
rs1104892	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11685892	0.83[ASN][1000 genomes]
rs17862866	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2012734	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2221198	0.81[ASN][1000 genomes]
rs2363116	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3806596	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4124874	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4148326	0.80[ASN][1000 genomes]
rs4399719	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4467260	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4663333	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4663963	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4663967	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4663969	0.81[ASN][1000 genomes]
rs4663971	0.80[ASN][1000 genomes]
rs6431628	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6706232	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711351	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6715325	0.85[ASN][1000 genomes]
rs6741669	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7556676	0.81[ASN][1000 genomes]
rs7572563	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574296	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7597496	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs871514	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234602800-234614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:234609000-234614400	Weak transcription	Stomach Mucosa	stomach
3	chr2:234609000-234614800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234609200-234614000	Weak transcription	NHEK	skin
5	chr2:234609200-234614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234610800-234613200	ZNF genes & repeats	A549	lung
7	chr2:234611000-234616000	Enhancers	Liver	Liver
8	chr2:234611400-234616600	Weak transcription	HUVEC	blood vessel
9	chr2:234611600-234614600	Weak transcription	Hela-S3	cervix
10	chr2:234611800-234614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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