Variant report

Variant	rs73337990
Chromosome Location	chr8:125434653-125434654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60121570	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv275091	chr8:125430760-125437615	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 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	chr8:125430600-125437800	Weak transcription	Left Ventricle	heart
2	chr8:125433800-125435400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:125434200-125435400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:125434400-125435000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:125434400-125435000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr8:125434400-125435200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:125434400-125435200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:125434400-125435200	Enhancers	Fetal Heart	heart
9	chr8:125434400-125438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:125434600-125434800	Enhancers	Brain Germinal Matrix	brain
11	chr8:125434600-125435000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:125434600-125435000	Enhancers	Placenta	Placenta
13	chr8:125434600-125435000	Enhancers	Spleen	Spleen
14	chr8:125434600-125435000	Enhancers	HUVEC	blood vessel
15	chr8:125434600-125435000	Enhancers	K562	blood
16	chr8:125434600-125435000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:125434600-125435200	Enhancers	Primary hematopoietic stem cells	blood

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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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