Variant report

Variant	rs142395300
Chromosome Location	chr3:120168545-120168546
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	chr3:120066850..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:97 , 50 per page) page: 1 2

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	chr3:120166200-120168600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:120166600-120170200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr3:120166800-120169000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:120167200-120168600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:120167400-120168600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:120167400-120168600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:120167400-120168600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:120167400-120168600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:120167400-120168600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:120167400-120168600	Flanking Active TSS	Fetal Heart	heart
16	chr3:120167400-120168600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr3:120167400-120168600	Flanking Active TSS	HMEC	breast
18	chr3:120167400-120168800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr3:120167400-120168800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr3:120167400-120168800	Flanking Active TSS	Fetal Lung	lung
21	chr3:120167400-120169200	Active TSS	Colonic Mucosa	Colon
22	chr3:120167400-120170400	Active TSS	Psoas Muscle	Psoas
23	chr3:120167600-120168600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:120167600-120168600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:120167600-120168600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr3:120167600-120170400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr3:120167800-120168600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:120167800-120168600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:120167800-120168600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:120167800-120168800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:120167800-120169000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr3:120167800-120169000	Flanking Active TSS	NHEK	skin
33	chr3:120167800-120170200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:120168000-120168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:120168000-120168800	Active TSS	Brain Germinal Matrix	brain
36	chr3:120168000-120168800	Flanking Active TSS	Fetal Kidney	kidney
37	chr3:120168000-120169200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:120168000-120169200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:120168000-120170200	Active TSS	Fetal Muscle Trunk	muscle
40	chr3:120168000-120170400	Active TSS	Brain Hippocampus Middle	brain
41	chr3:120168000-120170400	Active TSS	Left Ventricle	heart
42	chr3:120168000-120170400	Active TSS	NHDF-Ad	bronchial
43	chr3:120168000-120170600	Active TSS	Brain Anterior Caudate	brain
44	chr3:120168000-120170600	Active TSS	Right Atrium	heart
45	chr3:120168200-120168600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:120168200-120168600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:120168200-120168800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr3:120168200-120168800	Enhancers	Liver	Liver
49	chr3:120168200-120168800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
50	chr3:120168200-120168800	Flanking Active TSS	Hela-S3	cervix

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