Variant report

Variant	rs1530351
Chromosome Location	chr17:63131609-63131610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1533336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867212	0.87[EUR][1000 genomes]
rs1867213	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2007835	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs299820	0.90[EUR][1000 genomes]
rs299821	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs299824	0.90[CEU][hapmap]
rs409583	0.82[CHB][hapmap]
rs414341	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs421516	1.00[CHB][hapmap]
rs4790958	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs4791230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510199	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8079386	1.00[AFR][1000 genomes];1.00[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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:63124000-63132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:63127400-63133000	Weak transcription	GM12878-XiMat	blood
4	chr17:63127600-63133000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:63128000-63132800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:63128200-63133000	Weak transcription	Fetal Intestine Large	intestine
7	chr17:63128200-63133200	Weak transcription	Osteobl	bone
8	chr17:63128400-63133000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:63128600-63132600	Weak transcription	A549	lung
10	chr17:63129000-63133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:63129000-63133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:63129000-63133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:63129000-63133200	Weak transcription	NHDF-Ad	bronchial
14	chr17:63131000-63132800	Weak transcription	Liver	Liver
15	chr17:63131200-63132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:63131200-63132800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:63131200-63132800	Weak transcription	Fetal Thymus	thymus

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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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