Variant report

Variant	rs7530898
Chromosome Location	chr1:216790026-216790027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11572717	1.00[AMR][1000 genomes]
rs11572728	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11572730	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11572740	1.00[AMR][1000 genomes]
rs11572785	1.00[AMR][1000 genomes]
rs11572838	1.00[AMR][1000 genomes]
rs12239412	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239416	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374943	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375077	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs1498291	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1857402	1.00[AMR][1000 genomes]
rs28515906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678051	1.00[AMR][1000 genomes]
rs6682620	1.00[AMR][1000 genomes]
rs6685419	1.00[AMR][1000 genomes]
rs6693114	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216775200-216835400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:216781200-216792200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:216784600-216790400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:216787400-216853800	Weak transcription	Pancreas	Pancrea
5	chr1:216787800-216790200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:216789400-216791200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:216789600-216790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:216789800-216790200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:216789800-216790600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:216789800-216799800	Weak transcription	Left Ventricle	heart
11	chr1:216790000-216790200	Flanking Active TSS	Fetal Heart	heart
12	chr1:216790000-216790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:216790000-216790400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:216790000-216791000	Enhancers	Psoas Muscle	Psoas

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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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