Variant report

Variant	rs207430
Chromosome Location	chr2:31551391-31551392
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	chr2:31375968..31378300-chr2:31551253..31553701,2	MCF-7	breast:
2	chr2:31540620..31542351-chr2:31549685..31551986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs207433	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207436	0.90[EUR][1000 genomes]
rs207439	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs207441	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs207442	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs207444	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs207448	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs207449	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs207450	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs207451	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs207452	0.97[EUR][1000 genomes]
rs45488100	1.00[ASN][1000 genomes]
rs45593434	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr2:31528200-31554000	Weak transcription	Right Ventricle	heart
2	chr2:31543200-31551400	Weak transcription	Fetal Stomach	stomach
3	chr2:31543800-31551800	Weak transcription	Lung	lung
4	chr2:31547800-31551800	Weak transcription	Fetal Intestine Small	intestine
5	chr2:31547800-31551800	Weak transcription	Stomach Mucosa	stomach
6	chr2:31547800-31552000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:31547800-31552200	Weak transcription	Fetal Intestine Large	intestine
8	chr2:31547800-31552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:31547800-31556200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:31548000-31556000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31548000-31556000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:31548000-31556200	Weak transcription	Liver	Liver
13	chr2:31548000-31556400	Weak transcription	HMEC	breast
14	chr2:31548000-31557600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:31548000-31558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:31548200-31553600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:31548400-31558600	Weak transcription	NHEK	skin
19	chr2:31550200-31551600	Enhancers	Placenta	Placenta
20	chr2:31550400-31552800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:31550600-31553600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:31550800-31551400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:31550800-31551400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:31551000-31552200	Enhancers	Fetal Heart	heart

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