Variant report

Variant	rs1103634
Chromosome Location	chr5:40819232-40819233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
2	chr5:40816237..40819777-chr5:40833085..40836718,5	MCF-7	breast:
3	chr5:40816639..40819938-chr5:40825309..40828911,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs154272	0.89[ASN][1000 genomes]
rs1645509	0.89[ASN][1000 genomes]
rs166282	0.89[ASN][1000 genomes]
rs173619	0.89[ASN][1000 genomes]
rs181819	0.83[ASN][1000 genomes]
rs181820	0.89[ASN][1000 genomes]
rs181821	0.89[ASN][1000 genomes]
rs249439	0.89[ASN][1000 genomes]
rs34236150	0.89[ASN][1000 genomes]
rs370346	0.89[ASN][1000 genomes]
rs396412	0.89[ASN][1000 genomes]
rs424787	0.89[ASN][1000 genomes]
rs438604	0.89[ASN][1000 genomes]
rs441016	0.89[ASN][1000 genomes]
rs445367	0.89[ASN][1000 genomes]
rs455374	0.89[ASN][1000 genomes]
rs457111	0.89[ASN][1000 genomes]
rs458884	0.89[ASN][1000 genomes]
rs459491	0.89[ASN][1000 genomes]
rs459794	0.89[ASN][1000 genomes]
rs460752	0.89[ASN][1000 genomes]
rs463040	0.89[ASN][1000 genomes]
rs463675	0.89[ASN][1000 genomes]
rs463905	0.89[ASN][1000 genomes]
rs464045	0.89[ASN][1000 genomes]
rs464191	0.89[ASN][1000 genomes]
rs465467	0.89[ASN][1000 genomes]
rs467438	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	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808800-40825600	Weak transcription	HSMM	muscle
3	chr5:40813200-40823600	Weak transcription	K562	blood
4	chr5:40814000-40821600	Weak transcription	Thymus	Thymus
5	chr5:40814200-40826000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:40814200-40826000	Weak transcription	GM12878-XiMat	blood
7	chr5:40814200-40826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:40814400-40825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:40814400-40825200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:40814600-40827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:40816600-40826600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:40816600-40826800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:40817400-40821600	Weak transcription	Fetal Thymus	thymus
14	chr5:40818600-40826600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:40818600-40827000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:40818800-40825200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:40818800-40826200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:40819000-40825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:40819000-40825600	Weak transcription	NH-A	brain
20	chr5:40819000-40825600	Weak transcription	NHLF	lung

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