Variant report

Variant	rs7653133
Chromosome Location	chr3:119014537-119014538
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	POLR2A	chr3:119013838-119014590	SK-N-MC	brain:	n/a	n/a
2	MXI1	chr3:119011830-119016982	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119013595..119015497-chr3:119024900..119028569,3	MCF-7	breast:
2	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
3	chr3:119011961..119014558-chr3:119015081..119019200,4	MCF-7	breast:
4	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:

Variant related genes	Relation type
RPS26P21	TF binding region
ENSG00000241155	Chromatin interaction
ENSG00000242829	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4687845	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7637171	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119012200-119014800	Active TSS	NHDF-Ad	bronchial
2	chr3:119012200-119015000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:119012200-119015600	Active TSS	Fetal Muscle Trunk	muscle
4	chr3:119012400-119014600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:119012400-119014800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:119012400-119014800	Active TSS	Brain Anterior Caudate	brain
7	chr3:119012400-119014800	Active TSS	Fetal Kidney	kidney
8	chr3:119012400-119015000	Active TSS	Aorta	Aorta
9	chr3:119012400-119015200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:119012400-119015200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:119012400-119015200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:119012400-119015200	Active TSS	NHLF	lung
13	chr3:119012400-119015400	Active TSS	Fetal Intestine Small	intestine
14	chr3:119012400-119015600	Active TSS	Psoas Muscle	Psoas
15	chr3:119012400-119015800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:119012400-119015800	Active TSS	Rectal Smooth Muscle	rectum
17	chr3:119012400-119016000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:119012400-119016000	Active TSS	Brain Cingulate Gyrus	brain
19	chr3:119012400-119016200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:119012400-119016200	Active TSS	Left Ventricle	heart
21	chr3:119012400-119016200	Active TSS	Right Ventricle	heart
22	chr3:119012600-119014600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:119012600-119014800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr3:119012600-119014800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:119012600-119014800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:119012600-119014800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:119012600-119015000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:119012600-119015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:119012600-119015000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:119012600-119015000	Active TSS	Colon Smooth Muscle	Colon
31	chr3:119012600-119015000	Active TSS	Fetal Stomach	stomach
32	chr3:119012600-119015000	Active TSS	GM12878-XiMat	blood
33	chr3:119012600-119015200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr3:119012600-119015200	Active TSS	Fetal Heart	heart
35	chr3:119012600-119015200	Active TSS	Stomach Smooth Muscle	stomach
36	chr3:119012600-119015400	Active TSS	Ovary	ovary
37	chr3:119012600-119015600	Active TSS	Brain Substantia Nigra	brain
38	chr3:119012600-119016000	Active TSS	Brain Hippocampus Middle	brain
39	chr3:119012600-119016000	Active TSS	Lung	lung
40	chr3:119012600-119016400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr3:119012800-119014600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:119012800-119014600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr3:119012800-119014800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:119012800-119014800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:119012800-119014800	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr3:119012800-119014800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr3:119012800-119014800	Active TSS	Adipose Nuclei	Adipose
48	chr3:119012800-119014800	Active TSS	Thymus	Thymus
49	chr3:119012800-119015000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr3:119012800-119015000	Active TSS	Fetal Intestine Large	intestine

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