Variant report

Variant	rs7333241
Chromosome Location	chr13:52436958-52436959
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	chr13:52376935..52378764-chr13:52436044..52437882,2	MCF-7	breast:
2	chr13:52433416..52435036-chr13:52436676..52439385,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102796	Chromatin interaction
ENSG00000231856	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12874582	1.00[ASN][1000 genomes]
rs17076052	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1815392	0.82[EUR][1000 genomes]
rs1924610	0.92[EUR][1000 genomes]
rs1924614	1.00[ASN][1000 genomes]
rs1924615	1.00[ASN][1000 genomes]
rs1924618	1.00[ASN][1000 genomes]
rs2408529	1.00[CEU][hapmap]
rs2408530	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408531	0.96[EUR][1000 genomes]
rs2408533	0.80[EUR][1000 genomes]
rs28429889	1.00[ASN][1000 genomes]
rs28485335	1.00[ASN][1000 genomes]
rs34507703	1.00[ASN][1000 genomes]
rs34595679	1.00[ASN][1000 genomes]
rs35382547	1.00[ASN][1000 genomes]
rs35824984	1.00[ASN][1000 genomes]
rs4287464	1.00[CEU][hapmap]
rs4605048	1.00[ASN][1000 genomes]
rs549831	1.00[ASN][1000 genomes]
rs575555	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs577331	1.00[ASN][1000 genomes]
rs578134	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs579839	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58050745	1.00[ASN][1000 genomes]
rs58919798	1.00[ASN][1000 genomes]
rs61957362	1.00[ASN][1000 genomes]
rs61957363	1.00[ASN][1000 genomes]
rs61957365	1.00[ASN][1000 genomes]
rs61957367	1.00[ASN][1000 genomes]
rs61957391	1.00[ASN][1000 genomes]
rs61957414	1.00[ASN][1000 genomes]
rs7323551	1.00[ASN][1000 genomes]
rs7334073	1.00[CEU][hapmap]
rs7336182	1.00[ASN][1000 genomes]
rs7338168	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986191	1.00[CEU][hapmap]
rs932912	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526804	0.96[EUR][1000 genomes]
rs9535785	0.85[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7333241	LOC440138	cis	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52433800-52479400	Weak transcription	HepG2	liver
2	chr13:52434400-52437000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr13:52435400-52437200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:52435400-52437400	Enhancers	HUVEC	blood vessel
5	chr13:52436000-52437400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:52436000-52438000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:52436600-52438000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:52436600-52438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:52436600-52438200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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