Variant report

Variant	rs4931386
Chromosome Location	chr12:31063131-31063132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11051154	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73091601	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4931386	CCDC91	cis	cerebellum	SCAN
rs4931386	TSPAN11	cis	cerebellum	SCAN
rs4931386	YARS2	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31059000-31066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:31060800-31065000	Enhancers	Fetal Stomach	stomach
3	chr12:31061000-31063200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr12:31061200-31063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:31061200-31063200	Enhancers	HepG2	liver
6	chr12:31061200-31063400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:31061200-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:31061200-31063400	Enhancers	NHDF-Ad	bronchial
9	chr12:31061200-31064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:31061400-31063400	Enhancers	Fetal Lung	lung
11	chr12:31061400-31063400	Enhancers	Fetal Muscle Leg	muscle
12	chr12:31061400-31063400	Enhancers	Ovary	ovary
13	chr12:31061600-31063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:31061600-31063200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:31061600-31063200	Enhancers	GM12878-XiMat	blood
16	chr12:31061600-31063400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:31061600-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:31061800-31063200	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:31061800-31063200	Enhancers	Osteobl	bone
20	chr12:31061800-31063400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:31061800-31063400	Enhancers	Adipose Nuclei	Adipose
22	chr12:31062000-31063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:31062000-31063200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:31062000-31063200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:31062200-31064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:31062400-31064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:31062600-31063200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:31062600-31063200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:31062800-31063200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:31062800-31063200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:31062800-31066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:31063000-31063200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:31063000-31063200	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:31063000-31063200	Enhancers	Lung	lung
35	chr12:31063000-31063600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:31063000-31063800	Weak transcription	Fetal Brain Male	brain
37	chr12:31063000-31069800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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