Variant report

Variant	rs10505439
Chromosome Location	chr8:124662104-124662105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124655670..124657756-chr8:124660016..124662293,2	K562	blood:
2	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
3	chr8:124647506..124650348-chr8:124660565..124662892,2	MCF-7	breast:
4	chr8:124662099..124664193-chr8:124664462..124666029,2	MCF-7	breast:
5	chr8:124653035..124654923-chr8:124661285..124663313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956143	0.90[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12056317	0.84[ASN][1000 genomes]
rs16898668	0.89[ASN][1000 genomes]
rs16898685	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs16898686	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs16898687	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16898689	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16898691	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs4367519	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs56737136	0.84[ASN][1000 genomes]
rs58763139	0.97[ASN][1000 genomes]
rs61264957	0.84[ASN][1000 genomes]
rs62518569	0.97[ASN][1000 genomes]
rs66970129	0.99[ASN][1000 genomes]
rs72711231	0.94[ASN][1000 genomes]
rs72711243	0.90[ASN][1000 genomes]
rs72711245	0.90[ASN][1000 genomes]
rs72711246	0.90[ASN][1000 genomes]
rs72711249	0.88[ASN][1000 genomes]
rs72713110	0.88[ASN][1000 genomes]
rs72713116	0.84[ASN][1000 genomes]
rs9642868	0.94[ASN][1000 genomes]
rs9643183	0.90[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	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3420486	chr8:124661471-124665669	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124656800-124666000	Weak transcription	HSMM	muscle
2	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
4	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:124659800-124664200	Weak transcription	Fetal Stomach	stomach
7	chr8:124660000-124662400	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:124660200-124665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr8:124660400-124662800	Enhancers	Aorta	Aorta
10	chr8:124660800-124662200	Flanking Active TSS	Fetal Heart	heart
11	chr8:124660800-124665400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:124661000-124662200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
13	chr8:124661000-124663600	Active TSS	Left Ventricle	heart
14	chr8:124661000-124666000	Active TSS	Right Atrium	heart
15	chr8:124661200-124662600	Weak transcription	Fetal Intestine Large	intestine
16	chr8:124661200-124663400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:124661200-124664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:124661200-124665600	Weak transcription	Osteobl	bone
19	chr8:124661200-124665800	Weak transcription	HSMMtube	muscle
20	chr8:124661200-124665800	Weak transcription	NH-A	brain
21	chr8:124661200-124666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:124661200-124666400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:124661400-124663800	Active TSS	Fetal Muscle Leg	muscle
25	chr8:124661400-124666200	Active TSS	Fetal Muscle Trunk	muscle
26	chr8:124661600-124664400	Active TSS	Right Ventricle	heart
27	chr8:124661800-124662200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:124661800-124662200	Flanking Active TSS	Psoas Muscle	Psoas
29	chr8:124661800-124662200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr8:124661800-124664200	Weak transcription	Ovary	ovary
31	chr8:124661800-124664600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:124661800-124665000	Weak transcription	Fetal Intestine Small	intestine

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