Variant report

Variant	rs10056716
Chromosome Location	chr5:98280079-98280080
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98272097..98275128-chr5:98275593..98280478,6	MCF-7	breast:
2	chr5:98263406..98266421-chr5:98277549..98281338,5	MCF-7	breast:
3	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction
ENSG00000200351	Chromatin interaction
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10057320	0.81[AMR][1000 genomes]
rs12654682	0.96[ASN][1000 genomes]
rs17166485	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17732892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs59336530	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6866990	1.00[JPT][hapmap]
rs6881656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701100	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9327919	0.84[AFR][1000 genomes];0.93[AMR][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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266200-98283600	Weak transcription	Colonic Mucosa	Colon
2	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
3	chr5:98266800-98283200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:98274800-98282800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:98274800-98297200	Weak transcription	Thymus	Thymus
6	chr5:98276200-98281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:98276600-98282800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:98277200-98281200	Weak transcription	Right Ventricle	heart
9	chr5:98277200-98282000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:98277200-98283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:98277400-98281600	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:98277400-98282000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:98277400-98282000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:98277400-98282200	Weak transcription	Brain Substantia Nigra	brain
15	chr5:98277600-98281400	Weak transcription	Left Ventricle	heart
16	chr5:98277600-98281800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:98277600-98283000	Weak transcription	HMEC	breast
18	chr5:98277800-98280200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:98277800-98281000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:98277800-98281400	Weak transcription	Right Atrium	heart
21	chr5:98278600-98299400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:98278800-98281600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:98279400-98298400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:98279800-98280200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:98280000-98280400	Enhancers	Psoas Muscle	Psoas
26	chr5:98280000-98280600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:98280000-98281400	Weak transcription	K562	blood

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