Variant report

Variant	rs74148304
Chromosome Location	chr1:222063559-222063560
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	chr1:221914925..221916775-chr1:222062955..222065005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56706258	1.00[AFR][1000 genomes]
rs59663649	0.87[AFR][1000 genomes]
rs61496468	1.00[AFR][1000 genomes]
rs74145002	0.87[AFR][1000 genomes]
rs74145017	1.00[AFR][1000 genomes]
rs74145021	0.86[AFR][1000 genomes]
rs74148303	0.87[AFR][1000 genomes]
rs74148305	1.00[AFR][1000 genomes]
rs74148306	1.00[AFR][1000 genomes]
rs74148321	1.00[AFR][1000 genomes]
rs74148322	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222060800-222064400	Weak transcription	Psoas Muscle	Psoas
3	chr1:222060800-222064400	Weak transcription	Right Atrium	heart
4	chr1:222060800-222064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:222060800-222065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:222060800-222065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:222060800-222070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:222061000-222064400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:222061000-222064400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:222061000-222064400	Weak transcription	Osteobl	bone
11	chr1:222061000-222064800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:222061000-222064800	Weak transcription	NHLF	lung
13	chr1:222061200-222063800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:222061200-222063800	Weak transcription	HSMM	muscle
15	chr1:222061200-222064400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:222061200-222064400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:222061200-222064400	Weak transcription	HSMMtube	muscle
18	chr1:222061200-222064400	Weak transcription	NHEK	skin
19	chr1:222061400-222064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:222061400-222065200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:222061600-222064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:222062000-222065200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:222062200-222064800	Weak transcription	Hela-S3	cervix
24	chr1:222062200-222066400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:222062400-222064000	Weak transcription	HMEC	breast
26	chr1:222062800-222063800	Weak transcription	NHDF-Ad	bronchial
27	chr1:222062800-222065400	Weak transcription	Thymus	Thymus
28	chr1:222063200-222063800	Enhancers	GM12878-XiMat	blood
29	chr1:222063200-222066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:222063400-222063600	Enhancers	Adipose Nuclei	Adipose
31	chr1:222063400-222065000	Enhancers	Muscle Satellite Cultured Cells	--

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