Variant report

Variant	rs72929301
Chromosome Location	chr1:70838531-70838532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17131261	0.87[AFR][1000 genomes]
rs17131275	0.83[AFR][1000 genomes]
rs17131277	0.88[AFR][1000 genomes]
rs17131278	0.88[AFR][1000 genomes]
rs17131280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17131282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17131286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17131287	1.00[AMR][1000 genomes]
rs17131288	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17131289	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17131292	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57217591	1.00[AMR][1000 genomes]
rs58518248	1.00[AMR][1000 genomes]
rs59320305	1.00[AMR][1000 genomes]
rs6413468	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72914697	0.88[AFR][1000 genomes]
rs72914698	0.88[AFR][1000 genomes]
rs72916616	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72916621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7549628	0.83[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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:70821200-70841400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70821600-70839000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:70822000-70839400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:70827800-70839800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:70828400-70841000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:70835400-70838600	Weak transcription	Liver	Liver
7	chr1:70835400-70838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:70836400-70838600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:70837200-70838800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:70837200-70839600	Weak transcription	Left Ventricle	heart
11	chr1:70837200-70846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:70838000-70838600	Strong transcription	Brain Hippocampus Middle	brain
13	chr1:70838200-70840200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:70838400-70838800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:70838400-70839000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:70838400-70839200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:70838400-70840000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:70838400-70840000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:70838400-70840000	Weak transcription	Ovary	ovary

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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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