Variant report

Variant	rs573407348
Chromosome Location	chr2:86849547-86849548
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86667340..86669262-chr2:86848703..86850957,2	MCF-7	breast:
2	chr2:86789208..86791396-chr2:86847374..86850220,3	K562	blood:
3	chr2:86788265..86792368-chr2:86847223..86851122,9	MCF-7	breast:
4	chr2:86416284..86418486-chr2:86847509..86849748,2	K562	blood:
5	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
6	chr2:86789208..86791396-chr2:86848677..86850220,2	K562	blood:
7	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
8	chr17:8075574..8078045-chr2:86848559..86850973,2	MCF-7	breast:
9	chr2:86848500..86851973-chr2:86945425..86949651,4	MCF-7	breast:
10	chr2:86839004..86842325-chr2:86847581..86852030,6	MCF-7	breast:
11	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
12	chr2:86787885..86791617-chr2:86846945..86852237,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228363	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000153561	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000249884	Chromatin interaction

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

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3498261	chr2:86849516-86851839	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv3498262	chr2:86849516-86851839	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86829400-86849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86841200-86849600	Weak transcription	Gastric	stomach
3	chr2:86841200-86849600	Weak transcription	Spleen	Spleen
4	chr2:86841400-86849600	Weak transcription	Lung	lung
5	chr2:86842200-86849600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:86843000-86849600	Weak transcription	Esophagus	oesophagus
7	chr2:86843200-86849600	Weak transcription	Pancreas	Pancrea
8	chr2:86845200-86849600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:86847200-86851200	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:86847200-86851400	Active TSS	Right Atrium	heart
11	chr2:86847400-86850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:86847400-86851600	Active TSS	Right Ventricle	heart
13	chr2:86847600-86851200	Active TSS	GM12878-XiMat	blood
14	chr2:86847600-86851400	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:86847800-86849800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:86847800-86850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:86847800-86851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:86847800-86851400	Active TSS	Brain Angular Gyrus	brain
19	chr2:86848000-86851200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:86848000-86851200	Active TSS	Fetal Intestine Small	intestine
21	chr2:86848000-86851200	Active TSS	HMEC	breast
22	chr2:86848000-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:86848000-86851400	Active TSS	Brain Anterior Caudate	brain
24	chr2:86848000-86851400	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:86848000-86851400	Active TSS	Colon Smooth Muscle	Colon
26	chr2:86848000-86851400	Active TSS	Fetal Brain Female	brain
27	chr2:86848000-86851400	Active TSS	HSMMtube	muscle
28	chr2:86848000-86851600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:86848000-86851600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:86848200-86849600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:86848200-86849600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:86848200-86849800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:86848200-86849800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr2:86848200-86850000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:86848200-86850000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr2:86848200-86850000	Active TSS	Brain Germinal Matrix	brain
37	chr2:86848200-86851200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:86848200-86851200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:86848200-86851200	Active TSS	Fetal Intestine Large	intestine
40	chr2:86848200-86851200	Active TSS	Fetal Muscle Leg	muscle
41	chr2:86848200-86851200	Active TSS	Fetal Stomach	stomach
42	chr2:86848200-86851200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:86848200-86851200	Active TSS	Stomach Mucosa	stomach
44	chr2:86848200-86851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:86848200-86851400	Active TSS	Colonic Mucosa	Colon
46	chr2:86848200-86851400	Active TSS	Left Ventricle	heart
47	chr2:86848200-86851400	Active TSS	Ovary	ovary
48	chr2:86848200-86851400	Active TSS	Psoas Muscle	Psoas
49	chr2:86848200-86851400	Active TSS	HSMM	muscle
50	chr2:86848200-86851600	Active TSS	Aorta	Aorta

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