Variant report

Variant	rs4149497
Chromosome Location	chr16:71558970-71558971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr16:71558807-71559102	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr16:71558809-71559126	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71547709..71549497-chr16:71558790..71560524,2	MCF-7	breast:

Variant related genes	Relation type
CHST4	TF binding region
ENSG00000260520	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12597011	0.82[MEX][hapmap];1.00[YRI][hapmap]
rs12597949	1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12598228	1.00[ASW][hapmap]
rs2288489	0.82[GIH][hapmap];0.95[MEX][hapmap]
rs55676788	0.90[EUR][1000 genomes]
rs67581429	0.92[AMR][1000 genomes]
rs7187354	1.00[YRI][hapmap]
rs8043705	0.92[AMR][1000 genomes]
rs8044561	1.00[YRI][hapmap]
rs9926110	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv906892	chr16:71526720-71570413	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4149497	FUK	cis	cerebellum	SCAN
rs4149497	LRRC29	cis	parietal	SCAN
rs4149497	MARVELD3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71555000-71559000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:71555800-71559000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:71556000-71563200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:71557000-71560000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:71557400-71559400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:71557800-71559000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:71558200-71560000	Enhancers	HSMMtube	muscle
8	chr16:71558400-71559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:71558400-71559000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:71558400-71559000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr16:71558400-71559000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr16:71558400-71559000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:71558400-71559200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:71558400-71560800	Enhancers	HSMM	muscle
15	chr16:71558400-71561000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:71558600-71559200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr16:71558600-71559800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:71558600-71560000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr16:71558800-71559200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:71558800-71560200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr16:71558800-71560600	Flanking Active TSS	HMEC	breast

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