Variant report

Variant	rs71643427
Chromosome Location	chr1:217097776-217097777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11572498	0.94[EUR][1000 genomes]
rs11572499	0.92[EUR][1000 genomes]
rs11572510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11572513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17044346	0.94[EUR][1000 genomes]
rs17044349	0.94[EUR][1000 genomes]
rs17044372	0.94[EUR][1000 genomes]
rs17044374	0.94[EUR][1000 genomes]
rs34783704	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34936607	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683415	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548082	0.94[EUR][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	nsv873179	chr1:217056893-217112871	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv873180	chr1:217073060-217112871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217088800-217112000	Weak transcription	Pancreas	Pancrea
2	chr1:217089200-217099400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:217093400-217104800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:217096200-217099400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:217096400-217098000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:217096400-217100000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:217096800-217097800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:217096800-217098000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:217096800-217098000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:217096800-217100000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:217096800-217100000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:217096800-217100200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:217097000-217097800	Enhancers	Fetal Heart	heart
14	chr1:217097000-217099200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:217097000-217102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:217097200-217100200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:217097200-217100600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:217097400-217097800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:217097600-217097800	Enhancers	Gastric	stomach

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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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