Variant report

Variant	rs565518067
Chromosome Location	chr3:53078867-53078868
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53077653..53079153-chr3:53079208..53080925,2	K562	blood:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv590341	chr3:53077372-53079522	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv590342	chr3:53077372-53079888	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3341503	chr3:53078462-53080760	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3461090	chr3:53078737-53081285	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv20159	chr3:53078811-53080407	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1807284	chr3:53078838-53080351	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1840185	chr3:53078838-53080351	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:53077400-53079000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr3:53077600-53079000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr3:53077600-53079000	Flanking Active TSS	Dnd41	blood
4	chr3:53077800-53080800	Active TSS	Right Atrium	heart
5	chr3:53078000-53081200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:53078200-53079000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:53078200-53079000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr3:53078200-53079000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:53078200-53079000	Flanking Active TSS	Liver	Liver
10	chr3:53078200-53079000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr3:53078200-53079000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr3:53078200-53079000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr3:53078200-53079000	Flanking Active TSS	HMEC	breast
14	chr3:53078200-53079000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr3:53078200-53079000	Flanking Active TSS	NHEK	skin
16	chr3:53078200-53079000	Flanking Active TSS	Osteobl	bone
17	chr3:53078200-53080200	Active TSS	Colonic Mucosa	Colon
18	chr3:53078200-53080800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr3:53078200-53080800	Active TSS	Small Intestine	intestine
20	chr3:53078200-53081200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:53078400-53079000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr3:53078400-53079000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr3:53078400-53079000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:53078400-53079000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr3:53078400-53079000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr3:53078400-53079000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr3:53078400-53079000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:53078400-53079000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:53078400-53079000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:53078400-53079000	Flanking Active TSS	Fetal Lung	lung
31	chr3:53078400-53079000	Flanking Active TSS	Fetal Stomach	stomach
32	chr3:53078400-53079000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr3:53078400-53079000	Flanking Active TSS	NH-A	brain
34	chr3:53078400-53079200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:53078400-53079200	Flanking Active TSS	Hela-S3	cervix
36	chr3:53078400-53079800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:53078400-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:53078400-53080200	Active TSS	Right Ventricle	heart
39	chr3:53078400-53080600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr3:53078400-53080600	Active TSS	Placenta	Placenta
41	chr3:53078400-53080600	Active TSS	Pancreas	Pancrea
42	chr3:53078400-53080800	Active TSS	Esophagus	oesophagus
43	chr3:53078400-53081200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr3:53078400-53081200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:53078400-53081200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:53078600-53079000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:53078600-53079000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:53078600-53079000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr3:53078600-53079000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:53078600-53079000	Flanking Active TSS	Fetal Muscle Trunk	muscle

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