Variant report

Variant	rs9992693
Chromosome Location	chr4:119766693-119766694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10014908	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1015290	0.87[ASN][1000 genomes]
rs10518325	0.85[CHB][hapmap]
rs10518326	0.85[CHB][hapmap]
rs17050348	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28675981	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56395344	0.87[ASN][1000 genomes]
rs56812813	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59075024	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534108	0.87[ASN][1000 genomes]
rs72907223	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907227	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7658782	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7684047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119758200-119766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:119758200-119771200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:119762800-119771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:119763000-119766800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:119763000-119767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:119763000-119767600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:119763000-119769800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:119763200-119766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:119763200-119767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:119763200-119769600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:119763400-119768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:119764000-119771000	Weak transcription	NHDF-Ad	bronchial
13	chr4:119764000-119771200	Weak transcription	NHEK	skin
14	chr4:119764000-119771200	Weak transcription	Osteobl	bone
15	chr4:119764000-119771600	Weak transcription	HSMM	muscle
16	chr4:119764800-119768200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:119764800-119771400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:119764800-119771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:119764800-119771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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