Variant report

Variant	rs2332706
Chromosome Location	chr14:72470077-72470078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72468951..72470945-chr14:72473114..72474877,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1009018	0.81[CEU][hapmap]
rs10483838	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs11844049	0.88[ASN][1000 genomes]
rs11850350	0.88[ASN][1000 genomes]
rs11852205	0.88[ASN][1000 genomes]
rs1978226	0.88[CEU][hapmap]
rs2052014	0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs2109268	0.81[CEU][hapmap]
rs2190871	0.81[CEU][hapmap]
rs2190872	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs2238266	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2238278	0.83[EUR][1000 genomes]
rs2239266	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap]
rs23219	0.87[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs36327	0.82[EUR][1000 genomes]
rs3784054	0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs41389946	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap]
rs41488847	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap]
rs4598834	0.87[CEU][hapmap]
rs4902967	0.81[CEU][hapmap]
rs4902968	0.81[CEU][hapmap]
rs4902969	0.87[CEU][hapmap]
rs4902970	0.81[CEU][hapmap]
rs4902972	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];0.83[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs58870443	0.89[ASN][1000 genomes]
rs6574036	0.81[CEU][hapmap]
rs7161413	0.81[CEU][hapmap]
rs728495	0.81[CEU][hapmap]
rs73293287	0.89[ASN][1000 genomes]
rs758236	0.81[CEU][hapmap]
rs8004427	0.81[CEU][hapmap]
rs8011972	0.87[CEU][hapmap]
rs8014500	0.81[CEU][hapmap]
rs8017221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8017799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs917392	0.81[CEU][hapmap]
rs966815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2332706	HEATR4	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72467000-72471000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:72468000-72470200	Enhancers	Fetal Brain Male	brain
3	chr14:72468000-72470400	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:72468000-72470400	Weak transcription	Left Ventricle	heart
5	chr14:72469000-72470200	Enhancers	Fetal Brain Female	brain
6	chr14:72470000-72470600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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