Variant report

Variant	rs11158957
Chromosome Location	chr14:72947925-72947926
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	chr14:72946242..72947994-chr14:72951542..72953819,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1012246	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12588021	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548686	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs1548688	0.96[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2052027	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903028	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs740535	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758265	1.00[CHD][hapmap]
rs917427	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];1.00[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
rs11158957	DCAF5	cis	parietal	SCAN

Chromatin state (count:35 , 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	chr14:72944800-72948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:72945800-72948200	Enhancers	K562	blood
7	chr14:72945800-72948400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:72946000-72948400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:72946000-72948600	Enhancers	Primary hematopoietic stem cells	blood
10	chr14:72946000-72948600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:72946400-72948400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:72946400-72948400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:72946400-72948400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:72946600-72948000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:72946600-72949200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:72946800-72948600	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:72947000-72948400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:72947000-72948400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:72947200-72948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:72947200-72948200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:72947200-72948400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:72947200-72948400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:72947400-72948000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:72947400-72948200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:72947400-72948200	Flanking Active TSS	Dnd41	blood
26	chr14:72947400-72948400	Enhancers	Primary B cells from cord blood	blood
27	chr14:72947400-72948400	Flanking Active TSS	GM12878-XiMat	blood
28	chr14:72947400-72950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:72947600-72948200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:72947600-72948200	Enhancers	Thymus	Thymus
31	chr14:72947600-72948400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:72947800-72948200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:72947800-72948200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:72947800-72948400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:72947800-72948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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