Variant report

Variant	rs34518501
Chromosome Location	chr1:223808815-223808816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223722935..223725716-chr1:223807910..223810771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34272122	0.81[EUR][1000 genomes]
rs34537618	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34580160	0.81[EUR][1000 genomes]
rs34993691	0.88[ASN][1000 genomes]
rs35189569	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35469136	0.90[ASN][1000 genomes]
rs35539373	0.90[ASN][1000 genomes]
rs35568612	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35600877	0.80[EUR][1000 genomes]
rs36080106	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61825177	0.80[EUR][1000 genomes]
rs61825180	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61825181	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825208	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873212	chr1:223807262-223853792	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223796800-223811800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:223799400-223815400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:223802800-223821000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:223806200-223809200	Enhancers	HepG2	liver
5	chr1:223806200-223810200	Enhancers	Fetal Intestine Large	intestine
6	chr1:223806200-223816400	Weak transcription	Lung	lung
7	chr1:223806400-223809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:223806400-223811800	Weak transcription	Fetal Stomach	stomach
9	chr1:223807000-223810800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:223807600-223810200	Enhancers	Liver	Liver
11	chr1:223807600-223810600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:223807800-223810400	Enhancers	Fetal Muscle Leg	muscle
13	chr1:223808000-223809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:223808000-223809800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:223808000-223810200	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:223808200-223809200	Enhancers	Stomach Mucosa	stomach
17	chr1:223808400-223809000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:223808400-223809400	Weak transcription	Pancreas	Pancrea
19	chr1:223808600-223809000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:223808600-223809600	Enhancers	GM12878-XiMat	blood
21	chr1:223808600-223825000	Weak transcription	Gastric	stomach
22	chr1:223808800-223809800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:223808800-223809800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:223808800-223810800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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