Variant report

Variant	rs35980718
Chromosome Location	chr1:223012547-223012548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222996626..222998814-chr1:223011905..223014291,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11487817	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487861	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163510	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163518	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163525	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35271605	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35530937	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4415571	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838109	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839585	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839590	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839593	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839607	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839609	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839658	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839659	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840262	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840269	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840288	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61840295	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9441849	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9441937	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:222991800-223017200	Weak transcription	Aorta	Aorta
4	chr1:222997000-223016600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:222999600-223015600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223002200-223017000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:223002600-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:223003600-223013400	Weak transcription	Fetal Stomach	stomach
9	chr1:223007200-223017200	Weak transcription	Fetal Lung	lung
10	chr1:223007400-223016200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:223007800-223016200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:223007800-223016800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:223007800-223017400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:223008000-223017000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:223008200-223013400	Weak transcription	HSMMtube	muscle
16	chr1:223010000-223015200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:223010800-223015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:223010800-223027600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:223012200-223013000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:223012400-223012800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr1:223012400-223012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:223012400-223012800	Enhancers	Gastric	stomach
23	chr1:223012400-223013600	Weak transcription	Fetal Muscle Trunk	muscle

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