Variant report

Variant	rs17864691
Chromosome Location	chr2:234604841-234604842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234463184..234465142-chr2:234603277..234605983,2	MCF-7	breast:
2	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
3	chr2:234395630..234397717-chr2:234604680..234606573,2	MCF-7	breast:
4	chr2:234473868..234476982-chr2:234602699..234604920,3	MCF-7	breast:
5	chr2:234604730..234606945-chr2:234609647..234612272,2	K562	blood:
6	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
7	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224814	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11568318	0.81[EUR][1000 genomes]
rs1551286	0.84[EUR][1000 genomes]
rs17862835	0.84[EUR][1000 genomes]
rs17862844	0.84[EUR][1000 genomes]
rs17862846	0.84[EUR][1000 genomes]
rs17862848	0.84[EUR][1000 genomes]
rs17862851	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17862854	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17862859	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862874	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17863795	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863800	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17864666	0.84[EUR][1000 genomes]
rs17864670	0.84[EUR][1000 genomes]
rs17864671	0.84[EUR][1000 genomes]
rs17864675	0.84[EUR][1000 genomes]
rs17864689	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868298	0.84[EUR][1000 genomes]
rs17868299	0.84[EUR][1000 genomes]
rs17868301	0.84[EUR][1000 genomes]
rs17868318	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17868320	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868338	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17868341	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17874945	0.81[EUR][1000 genomes]
rs28898590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34916116	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45507691	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56125405	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56143032	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714486	0.95[EUR][1000 genomes]
rs6755571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563478	0.84[EUR][1000 genomes]
rs7585521	0.87[AMR][1000 genomes];0.95[EUR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234597800-234608600	Weak transcription	Gastric	stomach
2	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
3	chr2:234600400-234608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:234602200-234607600	Weak transcription	Pancreas	Pancrea
5	chr2:234602800-234614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234603400-234608000	Weak transcription	Stomach Mucosa	stomach
7	chr2:234603800-234605200	Weak transcription	A549	lung
8	chr2:234603800-234607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234604200-234608600	Weak transcription	HepG2	liver
10	chr2:234604400-234605200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:234604400-234607000	Weak transcription	Hela-S3	cervix
12	chr2:234604600-234605000	Enhancers	NHEK	skin
13	chr2:234604600-234605200	Enhancers	Liver	Liver

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