Variant report

Variant	rs4944044
Chromosome Location	chr11:71120213-71120214
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	MAFF	chr11:71120194-71120413	HepG2	liver:	n/a	n/a
2	MAFK	chr11:71120166-71120432	HepG2	liver:	n/a	chr11:71120308-71120323
3	MAFK	chr11:71120168-71120390	HepG2	liver:	n/a	chr11:71120308-71120323

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71118859..71120385-chr11:71125434..71128124,2	MCF-7	breast:
2	chr11:71113585..71115621-chr11:71119782..71121639,2	K562	blood:

Variant related genes	Relation type
ENSG00000172900	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1044482	0.87[CHB][hapmap]
rs11233747	0.81[CHB][hapmap]
rs11600569	0.82[CHB][hapmap]
rs11603330	0.87[CHB][hapmap]
rs11606033	0.88[CHB][hapmap]
rs12419279	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs12419334	0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12422045	0.87[CHB][hapmap]
rs12785878	0.82[CHB][hapmap]
rs12789253	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12790558	0.82[CHB][hapmap]
rs12791871	0.86[CHB][hapmap]
rs12793607	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12797951	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs12800438	0.82[CHB][hapmap]
rs12803256	0.86[ASN][1000 genomes]
rs12806918	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12808368	0.82[CHB][hapmap]
rs1981412	0.84[ASN][1000 genomes]
rs2040323	0.82[CHB][hapmap]
rs2276360	0.86[CHB][hapmap]
rs2276362	0.82[CHB][hapmap]
rs2852853	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs3763856	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3794060	0.82[CHB][hapmap]
rs4423214	0.81[CHB][hapmap]
rs4944042	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4944062	0.81[CHB][hapmap]
rs4944885	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944957	0.86[CHB][hapmap]
rs4944958	0.87[CHB][hapmap]
rs4944959	0.86[CHB][hapmap]
rs4945008	0.82[CHB][hapmap]
rs7928249	0.86[CHB][hapmap]
rs7935125	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs7938885	0.83[CHB][hapmap]
rs7944926	0.86[CHB][hapmap]
rs909217	0.85[ASN][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832202	chr11:71088949-71131368	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
6	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	esv3345939	chr11:71119404-71123802	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4944044	NADSYN1	cis	Nerve Tibial	GTEx
rs4944044	RP11-660L16.2	cis	Thyroid	GTEx
rs4944044	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71119800-71120400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr11:71120000-71120400	Enhancers	Brain Substantia Nigra	brain
3	chr11:71120000-71120600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:71120000-71120800	Enhancers	Brain Hippocampus Middle	brain

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