Variant report

Variant	rs61730397
Chromosome Location	chr8:124664594-124664595
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	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17255623	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4439107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61910739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518565	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518567	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv1841310	chr8:124664130-124666429	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 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	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:124660200-124665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
6	chr8:124660800-124665400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124661000-124666000	Active TSS	Right Atrium	heart
8	chr8:124661200-124665600	Weak transcription	Osteobl	bone
9	chr8:124661200-124665800	Weak transcription	HSMMtube	muscle
10	chr8:124661200-124665800	Weak transcription	NH-A	brain
11	chr8:124661200-124666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:124661200-124666400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:124661400-124666200	Active TSS	Fetal Muscle Trunk	muscle
15	chr8:124661800-124664600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:124661800-124665000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:124663000-124665400	Weak transcription	Fetal Intestine Large	intestine
18	chr8:124663200-124664800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
19	chr8:124663800-124665000	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:124663800-124665600	Flanking Active TSS	Fetal Heart	heart
21	chr8:124664000-124666200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr8:124664200-124664600	Active TSS	Rectal Smooth Muscle	rectum
24	chr8:124664200-124666200	Enhancers	Aorta	Aorta
25	chr8:124664200-124667800	Enhancers	Placenta	Placenta
26	chr8:124664200-124668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:124664200-124668400	Enhancers	Ovary	ovary
28	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
29	chr8:124664400-124664600	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr8:124664400-124664600	Enhancers	Lung	lung
31	chr8:124664400-124664800	Flanking Active TSS	Right Ventricle	heart
32	chr8:124664400-124666400	Active TSS	Psoas Muscle	Psoas
33	chr8:124664400-124666600	Active TSS	Left Ventricle	heart

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