Variant report

Variant	rs4858033
Chromosome Location	chr3:22413893-22413894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:22413816..22414336-chr3:133969155..133969870,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000163785	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11129053	0.91[EUR][1000 genomes]
rs1494217	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1868676	0.83[EUR][1000 genomes]
rs4858399	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6419844	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6780179	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9310691	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs965239	0.91[EUR][1000 genomes]
rs9849136	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv432404	chr3:22000296-22433396	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1003211	chr3:22244883-22584229	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv536520	chr3:22244883-22584229	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428082	chr3:22397625-22539817	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22410400-22415200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:22412200-22415000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:22412400-22415000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22413200-22414400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr3:22413200-22414400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:22413200-22414600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:22413200-22414600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:22413200-22414600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:22413200-22414600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr3:22413200-22414800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:22413400-22414000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:22413400-22414000	Bivalent Enhancer	Liver	Liver
13	chr3:22413400-22414000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr3:22413400-22414000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr3:22413400-22414000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr3:22413400-22414000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr3:22413400-22414200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:22413400-22414200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:22413400-22414200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:22413400-22414200	Active TSS	Right Atrium	heart
21	chr3:22413400-22414400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:22413400-22414400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:22413400-22414400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr3:22413400-22414400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:22413400-22414400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:22413400-22414400	Bivalent/Poised TSS	Fetal Lung	lung
27	chr3:22413400-22414600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr3:22413400-22414600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:22413400-22414600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:22413400-22414600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr3:22413400-22414600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr3:22413400-22414600	Bivalent/Poised TSS	NH-A	brain
33	chr3:22413400-22415000	Bivalent Enhancer	Fetal Heart	heart
34	chr3:22413600-22414000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:22413600-22414000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr3:22413600-22414000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr3:22413600-22414000	Flanking Active TSS	Ovary	ovary
38	chr3:22413600-22414000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr3:22413600-22414000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr3:22413600-22414200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:22413600-22414200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr3:22413600-22414200	Bivalent Enhancer	Fetal Brain Male	brain
43	chr3:22413600-22414200	Enhancers	Lung	lung
44	chr3:22413600-22414400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:22413600-22414400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
46	chr3:22413600-22414400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:22413600-22414400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:22413600-22414400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr3:22413600-22414400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr3:22413600-22414400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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