Variant report

Variant	rs66986383
Chromosome Location	chr3:21793358-21793359
allele	C/T
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	RAD21	chr3:21791389-21796924	SK-N-SH	brain:	n/a	chr3:21794444-21794456
2	CTCF	chr3:21793220-21793370	HMEC	breast:	n/a	n/a
3	MXI1	chr3:21791097-21795137	SK-N-SH	brain:	n/a	n/a
4	EP300	chr3:21792332-21794848	SK-N-SH	brain:	n/a	chr3:21792361-21792369

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13065237	0.81[AMR][1000 genomes]
rs13340131	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35383784	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67745068	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1007665	chr3:21781727-21809266	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011725	chr3:21786893-21804428	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1015075	chr3:21791806-21809266	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv15440	chr3:21793027-21795819	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21786400-21793600	Active TSS	Aorta	Aorta
2	chr3:21790000-21793400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:21790800-21793400	Active TSS	Fetal Brain Male	brain
4	chr3:21790800-21793400	Active TSS	Fetal Kidney	kidney
5	chr3:21791400-21793400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr3:21791800-21793400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:21792000-21793400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:21792000-21793400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:21792000-21793400	Active TSS	HSMM	muscle
10	chr3:21792200-21793600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:21792400-21793400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:21792400-21793400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:21792600-21793400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:21792800-21793400	Active TSS	Brain Hippocampus Middle	brain
15	chr3:21793000-21793400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:21793000-21793400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:21793000-21793400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:21793000-21793400	Flanking Active TSS	Fetal Lung	lung
19	chr3:21793000-21793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:21793200-21793400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:21793200-21793400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:21793200-21793400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:21793200-21793400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:21793200-21793400	Flanking Active TSS	Fetal Brain Female	brain
25	chr3:21793200-21793400	Enhancers	Fetal Heart	heart
26	chr3:21793200-21793400	Enhancers	Fetal Muscle Leg	muscle
27	chr3:21793200-21793400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:21793200-21793400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr3:21793200-21793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:21793200-21794000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:21793200-21795600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:21793200-21795800	Weak transcription	HSMMtube	muscle

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