Variant report

Variant	rs6813933
Chromosome Location	chr4:120052845-120052846
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4410512	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4833607	1.00[CEU][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4834753	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6813933	AIPL1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:120045800-120056200	Weak transcription	HSMMtube	muscle
3	chr4:120051200-120053400	Enhancers	Adipose Nuclei	Adipose
4	chr4:120051400-120054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:120051400-120054000	Enhancers	Osteobl	bone
6	chr4:120051600-120053000	Enhancers	Stomach Mucosa	stomach
7	chr4:120051600-120053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:120051600-120054000	Enhancers	NHDF-Ad	bronchial
9	chr4:120051800-120053000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:120051800-120053800	Enhancers	NHLF	lung
11	chr4:120051800-120054000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:120052000-120053400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:120052000-120057200	Weak transcription	Psoas Muscle	Psoas
14	chr4:120052200-120056400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:120052400-120056400	Weak transcription	HUVEC	blood vessel
16	chr4:120052600-120053000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:120052600-120053000	Enhancers	Gastric	stomach
18	chr4:120052600-120053200	Enhancers	Fetal Muscle Leg	muscle
19	chr4:120052600-120053200	Enhancers	Left Ventricle	heart
20	chr4:120052600-120053200	Enhancers	Pancreas	Pancrea
21	chr4:120052600-120053800	Enhancers	Aorta	Aorta
22	chr4:120052600-120054000	Enhancers	Fetal Heart	heart
23	chr4:120052600-120055800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:120052800-120053000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:120052800-120053200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:120052800-120053200	Enhancers	Right Atrium	heart
27	chr4:120052800-120053200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:120052800-120053400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:120052800-120057000	Weak transcription	Right Ventricle	heart
30	chr4:120052800-120058800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine

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