Variant report

Variant	rs72864187
Chromosome Location	chr1:10268887-10268888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4329521	0.85[AFR][1000 genomes]
rs72864158	0.81[AFR][1000 genomes]
rs72864185	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864188	1.00[ASN][1000 genomes]
rs72864193	0.91[ASN][1000 genomes]
rs72864196	0.91[ASN][1000 genomes]
rs72865925	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 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	chr1:10250000-10269800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10262000-10269400	Weak transcription	Fetal Brain Male	brain
3	chr1:10264600-10269400	Weak transcription	HSMMtube	muscle
4	chr1:10264800-10269000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:10265400-10269400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:10265400-10269400	Weak transcription	HepG2	liver
7	chr1:10265400-10269600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:10267600-10269200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:10268200-10269000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:10268200-10269400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:10268400-10269200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:10268600-10269600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:10268600-10270400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:10268800-10269200	Active TSS	Primary B cells from cord blood	blood
15	chr1:10268800-10269200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:10268800-10269200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:10268800-10269800	Enhancers	Primary B cells from peripheral blood	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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