Variant report

Variant	rs4496969
Chromosome Location	chr8:10153377-10153378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10903322	1.00[AFR][1000 genomes]
rs4240639	1.00[AFR][1000 genomes]
rs6601432	1.00[YRI][hapmap]
rs7463129	1.00[YRI][hapmap]

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	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10144400-10167000	Weak transcription	Right Ventricle	heart
2	chr8:10148200-10159800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:10149400-10163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:10151000-10160000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:10151400-10177000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:10151400-10178800	Weak transcription	Spleen	Spleen
7	chr8:10152400-10154200	Weak transcription	Psoas Muscle	Psoas
8	chr8:10152400-10154200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:10152400-10158200	Weak transcription	Fetal Brain Female	brain
10	chr8:10152800-10153400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10152800-10154200	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:10152800-10157400	Weak transcription	Fetal Brain Male	brain
13	chr8:10153000-10153400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:10153200-10153400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:10153200-10153600	Weak transcription	Brain Germinal Matrix	brain
16	chr8:10153200-10153600	Enhancers	Fetal Muscle Trunk	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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