Variant report

Variant	rs73587040
Chromosome Location	chr14:20896543-20896544
allele	A/C
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	chr14:20895560..20898428-chr14:20901208..20903499,2	MCF-7	breast:
2	chr14:20895421..20898617-chr14:20921701..20924939,5	K562	blood:
3	chr14:20886851..20892269-chr14:20894058..20898627,6	MCF-7	breast:
4	chr14:20895529..20898236-chr14:20933577..20935320,2	K562	blood:
5	chr14:20896527..20899166-chr14:20937420..20940324,3	K562	blood:
6	chr14:20894167..20899623-chr14:20921897..20927318,11	MCF-7	breast:
7	chr14:20895432..20898091-chr14:21080435..21082759,2	K562	blood:
8	chr14:20879544..20881824-chr14:20895939..20898322,2	K562	blood:
9	chr14:20880146..20883262-chr14:20895500..20898535,3	MCF-7	breast:
10	chr14:20895522..20898244-chr14:20937420..20941556,4	K562	blood:
11	chr14:20890908..20893134-chr14:20894952..20897337,2	K562	blood:
12	chr14:20892537..20895156-chr14:20895946..20898212,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198805	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17109446	1.00[EUR][1000 genomes]
rs17111755	1.00[EUR][1000 genomes]
rs17111837	1.00[EUR][1000 genomes]
rs2163091	1.00[EUR][1000 genomes]
rs7141182	1.00[EUR][1000 genomes]
rs73587041	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73587065	1.00[EUR][1000 genomes]
rs73587066	1.00[EUR][1000 genomes]
rs938885	1.00[EUR][1000 genomes]

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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20887800-20897400	Weak transcription	Pancreas	Pancrea
2	chr14:20888000-20898600	Weak transcription	Psoas Muscle	Psoas
3	chr14:20892400-20897200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:20895400-20896600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:20895400-20896600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr14:20895400-20896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:20895400-20896600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr14:20895400-20896800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:20895400-20896800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr14:20895400-20896800	Enhancers	Small Intestine	intestine
11	chr14:20895400-20896800	Flanking Active TSS	K562	blood
12	chr14:20895400-20897000	Enhancers	Dnd41	blood
13	chr14:20895400-20897200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:20895400-20897200	Flanking Active TSS	GM12878-XiMat	blood
15	chr14:20895400-20897400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr14:20895400-20897400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:20895400-20897600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:20895400-20897800	Enhancers	Thymus	Thymus
19	chr14:20895400-20898000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:20895400-20898200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:20895400-20898200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:20895400-20898600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:20895400-20898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:20895400-20898800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:20895400-20899000	Enhancers	Spleen	Spleen
26	chr14:20895600-20896600	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr14:20895600-20896600	Enhancers	Fetal Intestine Large	intestine
28	chr14:20895600-20896600	Active TSS	Rectal Smooth Muscle	rectum
29	chr14:20895600-20896600	Enhancers	Stomach Mucosa	stomach
30	chr14:20895600-20896800	Flanking Active TSS	Fetal Thymus	thymus
31	chr14:20895600-20896800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr14:20895600-20897000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:20895600-20897200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr14:20895600-20897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:20895600-20898000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:20895600-20898600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:20895600-20899000	Enhancers	Fetal Muscle Leg	muscle
38	chr14:20895800-20896600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:20895800-20897600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:20895800-20897600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:20895800-20898200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:20895800-20898200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:20895800-20898200	Weak transcription	Right Atrium	heart
44	chr14:20895800-20898400	Weak transcription	Esophagus	oesophagus
45	chr14:20895800-20898400	Weak transcription	Left Ventricle	heart
46	chr14:20895800-20898600	Enhancers	Adipose Nuclei	Adipose
47	chr14:20895800-20899000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr14:20895800-20902600	Weak transcription	Osteobl	bone
49	chr14:20895800-20902800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:20895800-20903000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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