Variant report

Variant	rs12515731
Chromosome Location	chr5:79666489-79666490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79664972..79667802-chr5:79701918..79705267,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000039319	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72763530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv328596	chr5:79662132-79670063	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79663400-79667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:79664800-79666800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:79664800-79667000	Enhancers	Brain Angular Gyrus	brain
4	chr5:79665000-79666600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:79665000-79667000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:79665200-79666800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:79665200-79666800	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:79665400-79666600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:79665400-79666600	Enhancers	Fetal Intestine Small	intestine
10	chr5:79665400-79667000	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:79665600-79666600	Enhancers	Brain Germinal Matrix	brain
12	chr5:79665600-79666600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:79665600-79666600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:79665600-79666800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:79665800-79666600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr5:79665800-79666800	Enhancers	Brain Anterior Caudate	brain
17	chr5:79665800-79667000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:79666000-79666600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:79666000-79666600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:79666000-79666600	Enhancers	Adipose Nuclei	Adipose
21	chr5:79666000-79666600	Enhancers	Spleen	Spleen
22	chr5:79666200-79666600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:79666200-79666600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:79666200-79666600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr5:79666200-79666600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:79666200-79666800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:79666200-79667200	Enhancers	Brain Substantia Nigra	brain
28	chr5:79666400-79666800	Bivalent Enhancer	HUVEC	blood vessel

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