Variant report

Variant	rs4657005
Chromosome Location	chr1:161244652-161244653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161243431..161244989-chr1:161257310..161259716,2	MCF-7	breast:
2	chr1:161230213..161232749-chr1:161243411..161246206,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11265582	0.90[ASN][1000 genomes]
rs11265583	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12049499	0.92[ASN][1000 genomes]
rs12088460	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12094828	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12409590	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2501867	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501871	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2501875	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2502812	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2502813	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34740003	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4075971	0.87[ASN][1000 genomes]
rs4255401	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4271232	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4436408	0.82[ASN][1000 genomes]
rs4582821	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4636483	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4636484	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4657002	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657003	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4657004	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4657006	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4657007	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657008	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657009	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4657013	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61802084	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6427583	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427584	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6681182	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6690484	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71517292	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7532915	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9427370	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9651035	0.81[AFR][1000 genomes]
rs9651049	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9651050	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161237400-161250600	Weak transcription	Pancreas	Pancrea
2	chr1:161238200-161257600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:161242600-161244800	Enhancers	Fetal Stomach	stomach
4	chr1:161242800-161244800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:161243000-161245000	Enhancers	Colon Smooth Muscle	Colon
6	chr1:161243000-161261200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:161243200-161264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:161243400-161251400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:161243800-161245000	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:161244600-161244800	Enhancers	Fetal Intestine Large	intestine
11	chr1:161244600-161245000	Enhancers	Fetal Heart	heart
12	chr1:161244600-161256000	Weak transcription	Stomach Smooth Muscle	stomach

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