Variant report

Variant	rs55753509
Chromosome Location	chr1:247436633-247436634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12135739	1.00[AFR][1000 genomes]
rs55834817	1.00[AFR][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	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv549587	chr1:247400259-247438446	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247436000-247436800	Enhancers	Fetal Kidney	kidney
2	chr1:247436000-247436800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:247436000-247436800	Enhancers	Placenta	Placenta
4	chr1:247436200-247436800	Enhancers	Psoas Muscle	Psoas
5	chr1:247436200-247436800	Enhancers	HSMM	muscle
6	chr1:247436200-247437000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:247436400-247436800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:247436400-247436800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:247436400-247436800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:247436400-247436800	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:247436400-247436800	Enhancers	Spleen	Spleen
12	chr1:247436400-247436800	Flanking Active TSS	HSMMtube	muscle
13	chr1:247436400-247437000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:247436400-247437000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:247436400-247437000	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:247436400-247437000	Enhancers	Fetal Heart	heart
17	chr1:247436600-247436800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:247436600-247437000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:247436600-247437000	Enhancers	Brain Substantia Nigra	brain
20	chr1:247436600-247438000	Weak transcription	Gastric	stomach

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