Variant report

Variant	rs177235
Chromosome Location	chr14:78495284-78495285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs177225	0.88[ASN][1000 genomes]
rs177227	1.00[ASN][1000 genomes]
rs177228	1.00[ASN][1000 genomes]
rs177230	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs177234	1.00[ASN][1000 genomes]
rs177241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826685	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73317074	1.00[ASN][1000 genomes]
rs8014862	1.00[ASN][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	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv902108	chr14:78459047-78541015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs177235	SH3D19	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78492600-78496000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:78492600-78496000	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:78493800-78495800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:78494600-78495600	Weak transcription	Fetal Brain Male	brain
5	chr14:78494800-78496000	Enhancers	Brain Germinal Matrix	brain
6	chr14:78494800-78496600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:78494800-78496600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:78494800-78496800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:78495000-78495800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:78495000-78495800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:78495000-78496800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:78495000-78496800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:78495000-78496800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:78495200-78496000	Weak transcription	Fetal Brain Female	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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