Variant report

Variant	rs2078224
Chromosome Location	chr1:210835426-210835427
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11119561	0.94[EUR][1000 genomes]
rs12116836	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs7349100	0.88[CEU][hapmap];0.91[GIH][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
4	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv873151	chr1:210818347-210846888	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv873152	chr1:210820285-210854815	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2078224	CD34	cis	parietal	SCAN
rs2078224	C1orf97	cis	cerebellum	SCAN
rs2078224	AVPR1B	cis	parietal	SCAN
rs2078224	C1orf107	cis	cerebellum	SCAN
rs2078224	TRAF3IP3	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
2	chr1:210827400-210837200	Weak transcription	Right Ventricle	heart
3	chr1:210827600-210836400	Weak transcription	Fetal Heart	heart
4	chr1:210827600-210836800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:210827600-210837000	Weak transcription	Gastric	stomach
6	chr1:210827600-210843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:210827600-210847600	Weak transcription	HSMM	muscle
8	chr1:210829000-210853400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:210831600-210837000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:210835400-210836000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210835400-210837200	Enhancers	Fetal Stomach	stomach
12	chr1:210835400-210838000	Strong transcription	HSMMtube	muscle
13	chr1:210835400-210863200	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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