Variant report

Variant	rs4839307
Chromosome Location	chr1:113863798-113863799
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12564854	0.80[EUR][1000 genomes]
rs12566366	0.84[EUR][1000 genomes]
rs12566375	0.84[EUR][1000 genomes]
rs17031326	0.83[EUR][1000 genomes]
rs17031327	0.84[EUR][1000 genomes]
rs17505292	0.83[EUR][1000 genomes]
rs17505313	0.83[EUR][1000 genomes]
rs61817469	0.83[EUR][1000 genomes]
rs61817491	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv999873	chr1:113840351-113949453	Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv1009534	chr1:113856612-113920889	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1010110	chr1:113856612-113969417	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
5	nsv1013228	chr1:113861524-113919893	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005599	chr1:113861524-113920889	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1012143	chr1:113861524-113930779	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1014757	chr1:113861524-113969417	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113851200-113868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:113862600-113864000	Enhancers	Fetal Intestine Small	intestine
3	chr1:113862600-113864000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:113862600-113864200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr1:113862800-113863800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:113862800-113864200	Enhancers	Small Intestine	intestine
7	chr1:113862800-113866200	Enhancers	Placenta	Placenta
8	chr1:113863000-113864200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:113863000-113864600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:113863200-113866200	Weak transcription	Hela-S3	cervix
11	chr1:113863400-113864200	Flanking Active TSS	A549	lung
12	chr1:113863400-113864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:113863400-113864800	Enhancers	Stomach Mucosa	stomach
14	chr1:113863600-113864000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:113863600-113864000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:113863600-113864200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:113863600-113864200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:113863600-113864400	Enhancers	Fetal Lung	lung
19	chr1:113863600-113864600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:113863600-113864800	Enhancers	Colonic Mucosa	Colon

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