Variant report

Variant	rs373123392
Chromosome Location	chr3:120168728-120168729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120066850..120068404-chr3:120168002..120169712,2	K562	blood:
2	chr3:120135893..120137729-chr3:120167558..120169629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240661	Chromatin interaction
ENSG00000163428	Chromatin interaction

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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv3338035	chr3:120168487-120171035	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120138200-120169200	Weak transcription	Gastric	stomach
2	chr3:120145800-120168800	Weak transcription	Pancreas	Pancrea
3	chr3:120156600-120168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:120162200-120168800	Weak transcription	Esophagus	oesophagus
5	chr3:120163000-120169000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:120166600-120170200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr3:120166800-120169000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:120167400-120168800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:120167400-120168800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr3:120167400-120168800	Flanking Active TSS	Fetal Lung	lung
11	chr3:120167400-120169200	Active TSS	Colonic Mucosa	Colon
12	chr3:120167400-120170400	Active TSS	Psoas Muscle	Psoas
13	chr3:120167600-120170400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
14	chr3:120167800-120168800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:120167800-120169000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr3:120167800-120169000	Flanking Active TSS	NHEK	skin
17	chr3:120167800-120170200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:120168000-120168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:120168000-120168800	Active TSS	Brain Germinal Matrix	brain
20	chr3:120168000-120168800	Flanking Active TSS	Fetal Kidney	kidney
21	chr3:120168000-120169200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:120168000-120169200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr3:120168000-120170200	Active TSS	Fetal Muscle Trunk	muscle
24	chr3:120168000-120170400	Active TSS	Brain Hippocampus Middle	brain
25	chr3:120168000-120170400	Active TSS	Left Ventricle	heart
26	chr3:120168000-120170400	Active TSS	NHDF-Ad	bronchial
27	chr3:120168000-120170600	Active TSS	Brain Anterior Caudate	brain
28	chr3:120168000-120170600	Active TSS	Right Atrium	heart
29	chr3:120168200-120168800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr3:120168200-120168800	Enhancers	Liver	Liver
31	chr3:120168200-120168800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
32	chr3:120168200-120168800	Flanking Active TSS	Hela-S3	cervix
33	chr3:120168200-120169200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:120168200-120169200	Flanking Active TSS	Fetal Brain Male	brain
35	chr3:120168200-120170200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:120168200-120170200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:120168200-120170200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:120168200-120170200	Active TSS	Right Ventricle	heart
39	chr3:120168200-120170400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:120168200-120170400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:120168200-120170400	Active TSS	Aorta	Aorta
42	chr3:120168200-120170400	Active TSS	NHLF	lung
43	chr3:120168200-120170600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr3:120168200-120170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:120168200-120170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:120168200-120170600	Active TSS	Colon Smooth Muscle	Colon
47	chr3:120168200-120170600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr3:120168200-120170600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:120168400-120168800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr3:120168400-120169000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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