Variant report

Variant	rs11933482
Chromosome Location	chr4:7597712-7597713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10021084	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10937843	0.85[JPT][hapmap]
rs11937918	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11942379	0.83[TSI][hapmap]
rs12500950	0.85[JPT][hapmap]
rs13102068	0.90[AMR][1000 genomes]
rs13124700	0.82[EUR][1000 genomes]
rs13143915	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs13144333	0.89[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs17368034	0.91[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17368333	0.85[JPT][hapmap]
rs2040746	1.00[CEU][hapmap]
rs4689793	0.83[CEU][hapmap]
rs6857646	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs967303	0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv461212	chr4:7572718-7620195	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593617	chr4:7572718-7620195	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11933482	LOC348926	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7594400-7599600	Enhancers	Brain Germinal Matrix	brain
2	chr4:7595200-7597800	Enhancers	Fetal Brain Male	brain
3	chr4:7595200-7599600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:7596000-7599200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7596200-7598000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7596600-7597800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:7596600-7598800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:7596800-7597800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:7596800-7598000	Enhancers	Brain Hippocampus Middle	brain
10	chr4:7596800-7599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7596800-7600000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:7596800-7600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:7597000-7598200	Enhancers	Brain Substantia Nigra	brain
14	chr4:7597000-7598600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:7597000-7599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:7597200-7597800	Enhancers	NH-A	brain
17	chr4:7597200-7598400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr4:7597400-7598000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:7597400-7598000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:7597400-7598200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:7597400-7598600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:7597400-7598600	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:7597400-7598800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:7597400-7599000	Enhancers	Brain Anterior Caudate	brain
25	chr4:7597600-7597800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:7597600-7597800	Enhancers	Right Ventricle	heart
27	chr4:7597600-7597800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr4:7597600-7598000	Enhancers	Left Ventricle	heart
29	chr4:7597600-7598000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr4:7597600-7598200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:7597600-7598200	Flanking Active TSS	Fetal Brain Female	brain
32	chr4:7597600-7598600	Enhancers	Brain Angular Gyrus	brain
33	chr4:7597600-7598800	Enhancers	Right Atrium	heart

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