Variant report

Variant	rs2283377
Chromosome Location	chr14:72948215-72948216
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	chr14:72942498..72946263-chr14:72947951..72951671,4	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10131497	0.89[CEU][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11844202	1.00[JPT][hapmap]
rs12050430	1.00[CEU][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12161899	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891926	1.00[JPT][hapmap]
rs1544524	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes]
rs1548685	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17116363	0.90[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17780517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2190937	1.00[JPT][hapmap]
rs2238177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2238179	1.00[JPT][hapmap]
rs2238181	0.89[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs2239273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2239274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2239275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2239276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3819549	0.86[ASW][hapmap];0.89[CEU][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs55830079	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55872112	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56134651	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57380844	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7159382	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72726152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs917426	0.80[CHD][hapmap];1.00[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2283377	ACOT6	cis	parietal	SCAN
rs2283377	ACOT4	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72943000-72948400	Enhancers	Fetal Thymus	thymus
2	chr14:72944000-72948400	Enhancers	Primary T cells from cord blood	blood
3	chr14:72944000-72949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
5	chr14:72945800-72948400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:72946000-72948400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:72946000-72948600	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:72946000-72948600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:72946400-72948400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:72946400-72948400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:72946400-72948400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr14:72946600-72949200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:72946800-72948600	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:72947000-72948400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:72947000-72948400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:72947200-72948400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:72947200-72948400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:72947400-72948400	Enhancers	Primary B cells from cord blood	blood
19	chr14:72947400-72948400	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:72947400-72950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:72947600-72948400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr14:72947800-72948400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:72947800-72948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:72948000-72948400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:72948000-72948400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:72948200-72948400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:72948200-72948600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:72948200-72948600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:72948200-72949200	Enhancers	Dnd41	blood

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