Variant report

Variant	rs6555014
Chromosome Location	chr5:1836906-1836907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1830290..1836159-chr5:1836315..1840959,6	MCF-7	breast:
2	chr5:1836463..1838135-chr5:1838419..1840189,2	MCF-7	breast:
3	chr5:1832864..1834515-chr5:1836517..1838024,2	MCF-7	breast:
4	chr5:1824774..1826571-chr5:1836421..1838392,2	K562	blood:
5	chr5:1834384..1837437-chr5:1881304..1884006,4	MCF-7	breast:
6	chr5:1835886..1837626-chr5:1848451..1851113,2	K562	blood:
7	chr5:1836646..1838690-chr5:1842727..1844259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249966	Chromatin interaction
ENSG00000113430	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10074291	0.88[EUR][1000 genomes]
rs10475109	0.88[EUR][1000 genomes]
rs11739312	0.88[EUR][1000 genomes]
rs2131588	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2131589	0.80[AMR][1000 genomes]
rs2353585	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4416633	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62338060	0.88[EUR][1000 genomes]
rs6873986	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6894566	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7701970	0.88[EUR][1000 genomes]
rs7714300	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv461911	chr5:1820557-1855301	Strong transcription Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv596890	chr5:1820557-1855301	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv596891	chr5:1822326-1880891	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv880647	chr5:1822326-1880891	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv881619	chr5:1822326-1886471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv596892	chr5:1832240-1892759	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1019713	chr5:1833072-1884738	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6555014	MRPL36	cis	Muscle Skeletal	GTEx
rs6555014	MRPL36	Cis_1M	lymphoblastoid	RTeQTL
rs6555014	MRPL36	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1827600-1854000	Weak transcription	Right Atrium	heart
2	chr5:1834600-1837000	Weak transcription	Right Ventricle	heart
3	chr5:1834800-1841400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:1835200-1841000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:1835400-1841000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:1835800-1841000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:1835800-1841000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:1836000-1837800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:1836200-1838000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr5:1836400-1837000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:1836400-1838400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:1836400-1838400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr5:1836600-1837000	Enhancers	Pancreas	Pancrea
14	chr5:1836600-1837400	Bivalent Enhancer	HepG2	liver
15	chr5:1836600-1838400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:1836600-1838400	Enhancers	Left Ventricle	heart
17	chr5:1836600-1843000	Enhancers	Fetal Heart	heart
18	chr5:1836800-1837000	Active TSS	Spleen	Spleen
19	chr5:1836800-1837600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr5:1836800-1838400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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