Variant report

Variant	rs4363425
Chromosome Location	chr1:222960203-222960204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17163481	0.95[AFR][1000 genomes];1.00[AMR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:222948200-222961600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:222957200-222960400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:222957200-222960400	Enhancers	Hela-S3	cervix
5	chr1:222957400-222961600	Enhancers	Fetal Lung	lung
6	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:222959000-222962200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:222959600-222960600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:222959600-222960600	Enhancers	Fetal Stomach	stomach
10	chr1:222959600-222961000	Enhancers	Placenta	Placenta
11	chr1:222959600-222962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:222959800-222960600	Enhancers	Colon Smooth Muscle	Colon
13	chr1:222959800-222961400	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:222959800-222966400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:222960000-222961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:222960000-222964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:222960000-222967800	Weak transcription	Stomach Mucosa	stomach
18	chr1:222960200-222960400	Bivalent Enhancer	Brain Substantia Nigra	brain
19	chr1:222960200-222964200	Weak transcription	HUVEC	blood vessel

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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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