Variant report

Variant	rs872376
Chromosome Location	chr1:179794602-179794603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179793280..179795680-chr1:179799049..179800852,2	K562	blood:
2	chr1:179792919..179795470-chr1:179832421..179835252,2	K562	blood:
3	chr1:179794600..179795490-chr6:105142707..105143333,2	MCF-7	breast:
4	chr1:179794231..179796736-chr1:179797450..179799021,2	K562	blood:

Variant related genes	Relation type
ENSG00000258664	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1281425	0.85[TSI][hapmap]
rs1498122	1.00[CHB][hapmap]
rs7535874	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv520418	chr1:179761601-179794602	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv519307	chr1:179766086-179795505	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
7	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs872376	FAM163A	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179791000-179807200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:179792800-179795400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:179793000-179795200	Enhancers	Adipose Nuclei	Adipose
4	chr1:179793200-179795600	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:179793400-179795200	Enhancers	Left Ventricle	heart
6	chr1:179793400-179795600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:179793400-179796000	Enhancers	Fetal Thymus	thymus
8	chr1:179793600-179795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:179793800-179795000	Weak transcription	Right Atrium	heart
10	chr1:179793800-179795000	Weak transcription	Spleen	Spleen
11	chr1:179793800-179795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:179793800-179796800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:179793800-179808800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:179794000-179796400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:179794400-179795200	Enhancers	Ovary	ovary
16	chr1:179794400-179795400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:179794400-179795600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:179794400-179795600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:179794400-179795600	Enhancers	Lung	lung
20	chr1:179794600-179794800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:179794600-179804800	Weak transcription	Right Ventricle	heart

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