Variant report

Variant	rs1800717
Chromosome Location	chr1:94461754-94461755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12028321	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17110714	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28695776	0.90[EUR][1000 genomes]
rs3747961	1.00[CEU][hapmap]
rs487906	1.00[CEU][hapmap]
rs565155	1.00[CEU][hapmap]
rs6666559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666652	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94446200-94463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94452400-94463800	Enhancers	HMEC	breast
3	chr1:94452800-94462400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94452800-94464000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:94458200-94462000	Enhancers	NHEK	skin
6	chr1:94458600-94461800	Enhancers	HSMM	muscle
7	chr1:94458800-94477000	Weak transcription	Right Atrium	heart
8	chr1:94459000-94461800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:94459600-94463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:94460400-94462000	Enhancers	NH-A	brain
11	chr1:94461400-94461800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:94461400-94462000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:94461400-94462000	Enhancers	Pancreas	Pancrea
14	chr1:94461400-94462200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94461600-94462000	Enhancers	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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