Variant report

Variant	rs4849048
Chromosome Location	chr2:112923983-112923984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112923230..112926205-chr2:113031356..113034130,2	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10189625	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10197919	1.00[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap]
rs10200201	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12711734	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1320359	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320360	0.85[JPT][hapmap]
rs13419623	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4318395	0.84[JPT][hapmap]
rs4848279	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4849046	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs4849047	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542041	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs6755850	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs7571942	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs7593053	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs7607362	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4849048	POLR1B	cis	parietal	SCAN
rs4849048	FBLN7	cis	cerebellum	SCAN
rs4849048	POLR1B	cis	cerebellum	SCAN
rs4849048	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112900600-112931400	Weak transcription	Fetal Lung	lung
3	chr2:112912600-112927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:112917400-112925600	Weak transcription	Spleen	Spleen
6	chr2:112918400-112939200	Weak transcription	Gastric	stomach
7	chr2:112918600-112939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:112919000-112939000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:112919600-112933400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:112919800-112924200	Weak transcription	Fetal Thymus	thymus
11	chr2:112919800-112933200	Weak transcription	Thymus	Thymus
12	chr2:112920200-112926000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:112920800-112927200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:112921000-112926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:112921600-112925600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:112921600-112925600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:112921600-112925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:112921600-112925600	Weak transcription	HSMMtube	muscle
19	chr2:112923000-112926000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:112923400-112924200	Weak transcription	Fetal Stomach	stomach
21	chr2:112923400-112925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:112923400-112926200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:112923400-112926800	Enhancers	HepG2	liver
24	chr2:112923400-112927200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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