Variant report

Variant	rs4688018
Chromosome Location	chr3:119305724-119305725
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119298069..119302115-chr3:119304955..119308560,6	MCF-7	breast:
2	chr3:119305600..119307239-chr3:119310554..119312770,2	K562	blood:
3	chr3:119305600..119307838-chr3:119310497..119312054,2	K562	blood:
4	chr3:119297063..119300617-chr3:119303800..119308221,4	MCF-7	breast:
5	chr3:119298998..119301745-chr3:119303862..119306440,2	K562	blood:

Variant related genes	Relation type
ENSG00000272967	Chromatin interaction
ENSG00000144843	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1485331	0.88[EUR][1000 genomes]
rs20568	0.84[EUR][1000 genomes]
rs4687867	0.88[EUR][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	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	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv3963	chr3:119301064-119345904	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119299200-119307800	Weak transcription	Esophagus	oesophagus
2	chr3:119299200-119308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:119299200-119314600	Weak transcription	Ovary	ovary
4	chr3:119299200-119315000	Weak transcription	Gastric	stomach
5	chr3:119299400-119306200	Weak transcription	Primary B cells from cord blood	blood
6	chr3:119299400-119306400	Weak transcription	Fetal Intestine Large	intestine
7	chr3:119299400-119307400	Weak transcription	Thymus	Thymus
8	chr3:119299400-119307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:119299400-119314200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:119299400-119314400	Weak transcription	Brain Angular Gyrus	brain
11	chr3:119299600-119306600	Weak transcription	Fetal Kidney	kidney
12	chr3:119299600-119307200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:119299600-119307200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:119299600-119307200	Weak transcription	Fetal Lung	lung
15	chr3:119299600-119307200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:119299600-119307400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:119299600-119307800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:119299600-119308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:119299600-119314200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:119299600-119314200	Weak transcription	Psoas Muscle	Psoas
21	chr3:119299800-119307200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:119299800-119308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:119299800-119308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:119299800-119309200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:119299800-119314600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:119299800-119314600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:119299800-119318000	Weak transcription	Fetal Heart	heart
28	chr3:119301400-119307200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:119301400-119307800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:119303400-119308200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:119303400-119308200	Strong transcription	Aorta	Aorta
32	chr3:119303600-119306000	Strong transcription	Spleen	Spleen
33	chr3:119303600-119308600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:119303600-119309800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:119304000-119308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:119304200-119306000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:119304800-119309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:119305000-119306600	Strong transcription	Right Ventricle	heart
39	chr3:119305000-119306800	Genic enhancers	GM12878-XiMat	blood
40	chr3:119305000-119308200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:119305200-119305800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:119305200-119305800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:119305200-119306000	Strong transcription	Pancreas	Pancrea
44	chr3:119305200-119308000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:119305400-119305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:119305400-119306000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:119305400-119306600	Strong transcription	Adipose Nuclei	Adipose
48	chr3:119305400-119306800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:119305400-119307600	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:119305400-119307600	Enhancers	HSMM	muscle

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