Variant report

Variant	rs567449441
Chromosome Location	chr3:21792806-21792807
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	YY1	chr3:21792288-21793043	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr3:21792355-21792962	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr3:21792431-21793017	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2F1	chr3:21792315-21792983	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:21792392-21793064	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:21792713-21792985	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXP2	chr3:21792406-21792946	PFSK-1	brain:	n/a	n/a
8	MAX	chr3:21792292-21792928	SK-N-SH	brain:	n/a	chr3:21792362-21792371
9	POLR2A	chr3:21792166-21792832	U87	brain:	n/a	n/a
10	SIN3AK20	chr3:21792294-21792848	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr3:21792066-21792869	H1-hESC	embryonic stem cell:	n/a	chr3:21792141-21792151 chr3:21792362-21792371
12	REST	chr3:21792452-21792832	PFSK-1	brain:	n/a	n/a
13	TBP	chr3:21792353-21792915	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr3:21792301-21793038	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr3:21792379-21793074	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr3:21792327-21792951	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr3:21792339-21792940	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr3:21792339-21792809	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr3:21792388-21792991	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr3:21792400-21793023	H1-hESC	embryonic stem cell:	n/a	chr3:21792599-21792609
21	MAX	chr3:21792349-21793010	H1-hESC	embryonic stem cell:	n/a	chr3:21792362-21792371
22	RAD21	chr3:21791389-21796924	SK-N-SH	brain:	n/a	chr3:21794444-21794456
23	CREB1	chr3:21792360-21793085	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr3:21792447-21792823	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr3:21792436-21793107	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3A	chr3:21791759-21793028	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:21791985-21793109	U87	brain:	n/a	n/a
28	MXI1	chr3:21791097-21795137	SK-N-SH	brain:	n/a	n/a
29	SIN3AK20	chr3:21792417-21792833	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr3:21792254-21793246	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr3:21792301-21793111	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr3:21791819-21793109	U87	brain:	n/a	n/a
33	EP300	chr3:21792332-21794848	SK-N-SH	brain:	n/a	chr3:21792361-21792369
34	USF1	chr3:21792571-21792876	SK-N-SH_RA	brain:	n/a	n/a
35	CREB1	chr3:21792463-21792984	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr3:21792429-21792811	PFSK-1	brain:	n/a	n/a
37	TAF1	chr3:21792427-21792984	PFSK-1	brain:	n/a	n/a
38	MAX	chr3:21792336-21792966	H1-hESC	embryonic stem cell:	n/a	chr3:21792362-21792371
39	SIN3AK20	chr3:21792360-21792981	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr3:21792151-21793295	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr3:21792354-21792994	H1-hESC	embryonic stem cell:	n/a	chr3:21792362-21792371
42	POLR2A	chr3:21792111-21793159	PFSK-1	brain:	n/a	n/a
43	MAX	chr3:21792333-21792898	SK-N-SH	brain:	n/a	chr3:21792362-21792371

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21786400-21793600	Active TSS	Aorta	Aorta
2	chr3:21788800-21793200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr3:21789200-21793200	Active TSS	Fetal Brain Female	brain
4	chr3:21789400-21793200	Active TSS	NHDF-Ad	bronchial
5	chr3:21789800-21793200	Active TSS	Stomach Smooth Muscle	stomach
6	chr3:21790000-21793400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:21790200-21793200	Active TSS	Right Atrium	heart
8	chr3:21790200-21793200	Active TSS	Right Ventricle	heart
9	chr3:21790400-21793200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21790400-21793200	Active TSS	Left Ventricle	heart
11	chr3:21790600-21793200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr3:21790600-21793200	Active TSS	Fetal Muscle Trunk	muscle
13	chr3:21790600-21793200	Active TSS	Fetal Stomach	stomach
14	chr3:21790800-21793200	Active TSS	Brain Germinal Matrix	brain
15	chr3:21790800-21793200	Active TSS	HMEC	breast
16	chr3:21790800-21793400	Active TSS	Fetal Brain Male	brain
17	chr3:21790800-21793400	Active TSS	Fetal Kidney	kidney
18	chr3:21791000-21793000	Active TSS	Rectal Smooth Muscle	rectum
19	chr3:21791400-21793200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:21791400-21793400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr3:21791600-21793000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:21791600-21793000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:21791600-21793000	Enhancers	Lung	lung
24	chr3:21791600-21793000	Flanking Active TSS	Psoas Muscle	Psoas
25	chr3:21791600-21793200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:21791600-21793200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:21791600-21793200	Active TSS	Osteobl	bone
28	chr3:21791800-21793000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:21791800-21793200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:21791800-21793200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr3:21791800-21793400	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr3:21792000-21793000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:21792000-21793000	Active TSS	Fetal Lung	lung
34	chr3:21792000-21793200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:21792000-21793200	Active TSS	Brain Anterior Caudate	brain
36	chr3:21792000-21793200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:21792000-21793400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:21792000-21793400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr3:21792000-21793400	Active TSS	HSMM	muscle
40	chr3:21792200-21793000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:21792200-21793000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:21792200-21793000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:21792200-21793200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:21792200-21793200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr3:21792200-21793200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:21792200-21793200	Active TSS	Brain Angular Gyrus	brain
47	chr3:21792200-21793600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr3:21792400-21793000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:21792400-21793000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr3:21792400-21793000	Enhancers	Pancreas	Pancrea

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