Variant report

Variant	rs7942698
Chromosome Location	chr11:35363078-35363079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35360058..35364651-chr11:35365186..35370074,5	K562	blood:
2	chr11:35294411..35297300-chr11:35361479..35363731,2	MCF-7	breast:
3	chr11:35360349..35364651-chr11:35366832..35371612,5	K562	blood:
4	chr11:35358795..35361684-chr11:35361699..35364606,3	K562	blood:
5	chr11:35362046..35363846-chr11:35365711..35367318,2	MCF-7	breast:

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	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836377	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836378	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033073	0.91[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs11033079	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033086	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033087	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273644	0.91[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	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756209	0.94[EUR][1000 genomes]
rs4756212	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756214	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]
rs7110985	0.87[CEU][hapmap];0.80[CHB][hapmap];0.95[EUR][1000 genomes]
rs7939421	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942395	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942586	0.98[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
rs7942698	ELF5	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

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	chr11:35354800-35363200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:35357000-35364000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:35359200-35364600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:35359400-35363400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:35359400-35364000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:35360000-35364000	Weak transcription	K562	blood
10	chr11:35361600-35363200	Enhancers	Adipose Nuclei	Adipose
11	chr11:35361600-35363200	Enhancers	Liver	Liver
12	chr11:35361600-35363400	Enhancers	HepG2	liver
13	chr11:35361600-35364400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:35361600-35364600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:35361800-35365800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:35361800-35367800	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:35361800-35368200	Weak transcription	Hela-S3	cervix
18	chr11:35362000-35366200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:35362000-35366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:35362000-35366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:35362000-35368000	Weak transcription	Left Ventricle	heart
22	chr11:35362200-35365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:35362200-35366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:35362200-35366200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:35362200-35366800	Weak transcription	Right Atrium	heart
26	chr11:35362200-35367800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:35362400-35363200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:35362400-35368400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:35362600-35366000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:35362600-35366200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:35362600-35372800	Weak transcription	NHLF	lung
32	chr11:35362800-35366000	Weak transcription	Psoas Muscle	Psoas
33	chr11:35362800-35366600	Weak transcription	NHDF-Ad	bronchial
34	chr11:35362800-35366800	Weak transcription	Pancreas	Pancrea
35	chr11:35363000-35363600	Enhancers	Primary T cells from cord blood	blood
36	chr11:35363000-35369200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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