Variant report

Variant	rs339686
Chromosome Location	chr3:42769688-42769689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:42769606-42769759	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42746557..42750988-chr3:42768421..42772654,4	K562	blood:

Variant related genes	Relation type
CCDC13-AS1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs121993	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs123506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs123509	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339662	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404423	1.00[CHB][hapmap]
rs6865	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs735320	1.00[CHB][hapmap]
rs7641452	1.00[CHB][hapmap]
rs9865715	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42760400-42773600	Enhancers	Brain Substantia Nigra	brain
2	chr3:42763600-42773600	Enhancers	Brain Anterior Caudate	brain
3	chr3:42763600-42774800	Enhancers	Brain Angular Gyrus	brain
4	chr3:42763800-42771400	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:42764000-42771000	Weak transcription	Psoas Muscle	Psoas
6	chr3:42765000-42771000	Weak transcription	Right Ventricle	heart
7	chr3:42765000-42772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:42765200-42770800	Weak transcription	Fetal Heart	heart
9	chr3:42767600-42772600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:42767800-42774400	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:42768600-42776000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:42769000-42769800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:42769000-42769800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:42769000-42770000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:42769000-42770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:42769000-42773600	Enhancers	Brain Hippocampus Middle	brain
17	chr3:42769000-42774200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:42769000-42774800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:42769000-42775000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:42769600-42769800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:42769600-42769800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:42769600-42769800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:42769600-42769800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:42769600-42769800	Enhancers	Adipose Nuclei	Adipose
25	chr3:42769600-42769800	Enhancers	Esophagus	oesophagus
26	chr3:42769600-42769800	Enhancers	Gastric	stomach
27	chr3:42769600-42769800	Enhancers	Left Ventricle	heart
28	chr3:42769600-42769800	Enhancers	Right Atrium	heart
29	chr3:42769600-42771200	Enhancers	Ovary	ovary
30	chr3:42769600-42785600	Weak transcription	Stomach Smooth Muscle	stomach

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