Variant report

Variant	rs61496468
Chromosome Location	chr1:222065293-222065294
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221651204..221652055-chr1:222065020..222066030,3	MCF-7	breast:
2	chr1:222059154..222062449-chr1:222064103..222067138,3	MCF-7	breast:

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]
rs74145002	0.87[AFR][1000 genomes]
rs74145017	1.00[AFR][1000 genomes]
rs74145021	0.86[AFR][1000 genomes]
rs74148303	0.87[AFR][1000 genomes]
rs74148304	1.00[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:28 , 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	chr1:222060800-222065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:222060800-222070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:222062200-222066400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:222062800-222065400	Weak transcription	Thymus	Thymus
6	chr1:222063200-222066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:222063800-222066400	Enhancers	NHDF-Ad	bronchial
8	chr1:222063800-222066600	Enhancers	HSMM	muscle
9	chr1:222064000-222066400	Enhancers	HMEC	breast
10	chr1:222064200-222066200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:222064400-222065800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:222064400-222065800	Enhancers	NHEK	skin
13	chr1:222064400-222066000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:222064400-222066000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:222064400-222066000	Enhancers	HSMMtube	muscle
16	chr1:222064400-222066000	Enhancers	Osteobl	bone
17	chr1:222064400-222066200	Enhancers	Adipose Nuclei	Adipose
18	chr1:222064400-222066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:222064600-222065400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:222064600-222073400	Weak transcription	Psoas Muscle	Psoas
21	chr1:222064800-222065600	Enhancers	Hela-S3	cervix
22	chr1:222064800-222065800	Enhancers	NHLF	lung
23	chr1:222064800-222066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:222065000-222065600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:222065000-222070200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:222065200-222065400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:222065200-222065800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:222065200-222065800	Enhancers	Skeletal Muscle Female	skeletal muscle

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