Variant report

Variant	rs218207
Chromosome Location	chr2:33355150-33355151
allele	C/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	USF1	chr2:33355091-33355472	K562	blood:	n/a	n/a
2	USF1	chr2:33355126-33355438	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33352861..33355600-chr2:33385791..33387865,2	MCF-7	breast:

Variant related genes	Relation type
LTBP1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10189552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1037507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563183	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1563184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563185	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218188	0.88[AMR][1000 genomes]
rs218192	0.88[AMR][1000 genomes]
rs218193	0.88[AMR][1000 genomes]
rs218194	0.82[AMR][1000 genomes]
rs218198	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218205	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2198567	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4670254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577712	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs897091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33333800-33355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:33336600-33358400	Weak transcription	HUVEC	blood vessel
3	chr2:33336800-33358200	Weak transcription	Liver	Liver
4	chr2:33344000-33357600	Weak transcription	Left Ventricle	heart
5	chr2:33346800-33358400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:33347400-33358000	Weak transcription	Ovary	ovary
7	chr2:33348800-33356200	Weak transcription	HSMM	muscle
8	chr2:33352200-33358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:33352800-33355600	Weak transcription	NH-A	brain
10	chr2:33352800-33356000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:33353000-33355200	Weak transcription	HMEC	breast
12	chr2:33353000-33355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:33353000-33355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:33353000-33355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:33353000-33355800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:33353000-33355800	Weak transcription	NHLF	lung
17	chr2:33353200-33355600	Weak transcription	NHEK	skin
18	chr2:33353400-33355200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:33353600-33355400	Weak transcription	NHDF-Ad	bronchial
20	chr2:33353600-33358600	Weak transcription	HSMMtube	muscle
21	chr2:33353600-33359200	Weak transcription	Right Ventricle	heart
22	chr2:33354000-33355600	Weak transcription	Fetal Heart	heart
23	chr2:33354000-33355800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:33354000-33356200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:33354200-33355800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:33354400-33355200	Enhancers	Osteobl	bone
27	chr2:33354400-33356000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:33354400-33357200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:33354400-33357400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:33354600-33355800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:33354800-33355200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:33354800-33355400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:33354800-33355600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:33354800-33356400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:33354800-33357200	Enhancers	A549	lung
36	chr2:33354800-33358800	Enhancers	Fetal Lung	lung
37	chr2:33355000-33356200	Enhancers	Aorta	Aorta
38	chr2:33355000-33357600	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:33355000-33359400	Enhancers	Rectal Smooth Muscle	rectum

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