Variant report

Variant	rs4541894
Chromosome Location	chr8:124653574-124653575
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124644904..124649137-chr8:124652807..124658443,6	MCF-7	breast:
2	chr8:124653035..124654923-chr8:124661285..124663313,2	MCF-7	breast:
3	chr8:124651070..124655154-chr8:124655316..124659808,4	MCF-7	breast:
4	chr8:124651607..124653869-chr8:124656583..124659283,2	MCF-7	breast:
5	chr8:124643571..124646557-chr8:124651939..124654675,2	MCF-7	breast:
6	chr8:124606659..124608342-chr8:124651768..124654525,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11777302	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992791	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261694	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870861	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871400	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470166	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387179	0.91[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs7388387	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388404	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124646000-124655800	Weak transcription	Osteobl	bone
2	chr8:124648800-124656000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:124650200-124655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:124651400-124653600	Enhancers	Ovary	ovary
5	chr8:124651800-124653600	Enhancers	Colon Smooth Muscle	Colon
6	chr8:124651800-124653600	Enhancers	Fetal Heart	heart
7	chr8:124651800-124653600	Enhancers	Left Ventricle	heart
8	chr8:124652000-124655800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:124652200-124653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:124652200-124657800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:124652200-124658200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:124652400-124653600	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:124652600-124653600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:124652600-124655800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:124652800-124653600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:124652800-124654000	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:124653000-124655400	Weak transcription	Aorta	Aorta
18	chr8:124653200-124653600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:124653200-124655000	Weak transcription	Psoas Muscle	Psoas
20	chr8:124653200-124655800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:124653200-124655800	Weak transcription	Right Atrium	heart
22	chr8:124653200-124656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:124653200-124656000	Weak transcription	Fetal Lung	lung
24	chr8:124653400-124653600	Enhancers	Right Ventricle	heart
25	chr8:124653400-124655800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:124653400-124656400	Weak transcription	HSMMtube	muscle

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