Variant report

Variant	rs565126460
Chromosome Location	chr3:49978790-49978791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
3	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
4	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
5	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
6	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
7	chr3:49978223..49979811-chr3:50003793..50005372,2	K562	blood:

Variant related genes	Relation type
ENSG00000003756	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000176095	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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49977000-49978800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:49977000-49978800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr3:49977000-49978800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:49977000-49978800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:49977000-49978800	Active TSS	Psoas Muscle	Psoas
6	chr3:49977000-49978800	Active TSS	A549	lung
7	chr3:49977000-49979000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr3:49977200-49978800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:49977200-49978800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr3:49977200-49978800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:49977200-49979000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:49977400-49978800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr3:49977400-49978800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:49977400-49978800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:49977400-49978800	Active TSS	Placenta Amnion	Placenta Amnion
16	chr3:49977400-49979000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr3:49977400-49979000	Active TSS	HSMM	muscle
18	chr3:49977400-49979000	Active TSS	NHDF-Ad	bronchial
19	chr3:49977400-49979200	Active TSS	GM12878-XiMat	blood
20	chr3:49977800-49978800	Active TSS	Right Atrium	heart
21	chr3:49977800-49979400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:49978000-49978800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr3:49978000-49978800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr3:49978000-49978800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr3:49978000-49978800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr3:49978000-49978800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:49978000-49978800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr3:49978000-49978800	Flanking Active TSS	Liver	Liver
29	chr3:49978000-49978800	Bivalent/Poised TSS	HepG2	liver
30	chr3:49978000-49979000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:49978000-49979000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:49978200-49978800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr3:49978200-49978800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr3:49978200-49978800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:49978200-49978800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:49978200-49978800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr3:49978200-49978800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr3:49978200-49978800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr3:49978200-49978800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:49978200-49978800	Flanking Active TSS	Fetal Brain Male	brain
41	chr3:49978200-49978800	Flanking Active TSS	Fetal Lung	lung
42	chr3:49978200-49978800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:49978200-49978800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr3:49978200-49978800	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr3:49978200-49979000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:49978200-49979000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:49978200-49979000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:49978200-49979000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr3:49978200-49979000	Flanking Active TSS	Fetal Brain Female	brain
50	chr3:49978200-49979000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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