Variant report

Variant	rs4756214
Chromosome Location	chr11:35365938-35365939
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	chr11:35362046..35363846-chr11:35365711..35367318,2	MCF-7	breast:
2	chr11:35360058..35364651-chr11:35365186..35370074,5	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10836372	0.94[EUR][1000 genomes]
rs10836376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836377	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836378	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033073	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs11033079	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033086	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273644	0.95[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs1885343	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756209	0.94[EUR][1000 genomes]
rs4756212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110985	0.91[CEU][hapmap];0.80[CHB][hapmap];0.95[EUR][1000 genomes]
rs7939421	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942586	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942698	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756214	ELF5	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35354000-35367800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:35354400-35366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:35354600-35366000	Weak transcription	Brain Substantia Nigra	brain
4	chr11:35361800-35367800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:35361800-35368200	Weak transcription	Hela-S3	cervix
6	chr11:35362000-35366200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:35362000-35366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:35362000-35366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:35362000-35368000	Weak transcription	Left Ventricle	heart
10	chr11:35362200-35366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:35362200-35366200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:35362200-35366800	Weak transcription	Right Atrium	heart
13	chr11:35362200-35367800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:35362400-35368400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:35362600-35366000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:35362600-35366200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:35362600-35372800	Weak transcription	NHLF	lung
18	chr11:35362800-35366000	Weak transcription	Psoas Muscle	Psoas
19	chr11:35362800-35366600	Weak transcription	NHDF-Ad	bronchial
20	chr11:35362800-35366800	Weak transcription	Pancreas	Pancrea
21	chr11:35363000-35369200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:35363200-35366000	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:35363200-35366200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:35363200-35368600	Weak transcription	Liver	Liver
25	chr11:35363400-35366000	Weak transcription	HepG2	liver
26	chr11:35363400-35367200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:35363400-35367200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:35363800-35366000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:35364000-35366800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:35364000-35367000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:35364200-35367200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr11:35364600-35366200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:35364600-35371600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:35364800-35366200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:35364800-35367400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:35364800-35370000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:35365000-35366200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:35365000-35367400	Enhancers	GM12878-XiMat	blood
39	chr11:35365000-35367600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:35365200-35366200	Enhancers	K562	blood
41	chr11:35365200-35367000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:35365200-35367200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:35365200-35367200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:35365200-35368400	Enhancers	Primary T cells from cord blood	blood
45	chr11:35365400-35366600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:35365400-35366800	Weak transcription	Fetal Thymus	thymus
47	chr11:35365400-35368000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:35365600-35370400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:35365800-35366600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:35365800-35366600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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