Variant report

Variant	rs393414
Chromosome Location	chr6:28521316-28521317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2143766	0.87[ASN][1000 genomes]
rs2227228	0.81[GIH][hapmap];0.90[JPT][hapmap]
rs2859355	0.81[GIH][hapmap];0.90[JPT][hapmap]
rs389118	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs392230	0.87[ASN][1000 genomes]
rs437691	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs454182	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711173	0.83[EUR][1000 genomes]
rs62402376	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv601211	chr6:28483482-28521316	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs393414	ZNF323	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28510800-28521600	Weak transcription	Pancreas	Pancrea
2	chr6:28520200-28521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:28520200-28521400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:28520400-28521400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:28520600-28522600	Flanking Active TSS	Liver	Liver
6	chr6:28520800-28523000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:28521200-28521400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr6:28521200-28521400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr6:28521200-28521400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:28521200-28521800	Bivalent Enhancer	Fetal Kidney	kidney
11	chr6:28521200-28522000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:28521200-28522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:28521200-28522600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:28521200-28522600	Flanking Active TSS	K562	blood
15	chr6:28521200-28523200	Flanking Active TSS	HepG2	liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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