Variant report

Variant	rs73785937
Chromosome Location	chr5:119793880-119793881
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119792597..119795401-chr5:119799043..119801706,2	K562	blood:
2	chr5:119785992..119787497-chr5:119792334..119794755,2	K562	blood:
3	chr5:119278619..119279545-chr5:119793318..119794660,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1503926	0.82[EUR][1000 genomes]
rs17146596	1.00[EUR][1000 genomes]
rs17146610	1.00[EUR][1000 genomes]
rs17146612	1.00[EUR][1000 genomes]
rs17146625	0.93[EUR][1000 genomes]
rs1835869	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60019001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60263195	0.93[EUR][1000 genomes]
rs6595230	1.00[EUR][1000 genomes]
rs6595231	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887795	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891906	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783447	0.93[EUR][1000 genomes]
rs73784933	1.00[EUR][1000 genomes]
rs73784937	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73784938	1.00[EUR][1000 genomes]
rs73785926	0.93[EUR][1000 genomes]
rs73785931	0.93[EUR][1000 genomes]
rs73785936	0.93[EUR][1000 genomes]
rs73785938	0.93[EUR][1000 genomes]
rs7712011	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119787000-119798200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
3	chr5:119788800-119794000	Enhancers	Fetal Heart	heart
4	chr5:119790400-119799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:119791000-119794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:119792800-119798800	Weak transcription	Fetal Lung	lung
7	chr5:119793400-119794200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:119793400-119794200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:119793600-119794000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr5:119793600-119794000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:119793600-119794000	Active TSS	Aorta	Aorta
12	chr5:119793600-119794000	Flanking Active TSS	Liver	Liver
13	chr5:119793600-119794000	Enhancers	Esophagus	oesophagus
14	chr5:119793600-119794000	Flanking Active TSS	Placenta	Placenta
15	chr5:119793600-119794000	Enhancers	Spleen	Spleen
16	chr5:119793600-119794000	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr5:119793600-119794000	Active TSS	HUVEC	blood vessel
18	chr5:119793600-119794000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:119793600-119794200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:119793600-119794200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:119793600-119794200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:119793600-119794200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:119793600-119794200	Active TSS	Primary T cells fromperipheralblood	blood
24	chr5:119793600-119794200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr5:119793600-119794200	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr5:119793600-119794200	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr5:119793600-119794200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr5:119793600-119794200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:119793600-119794200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:119793600-119794200	Active TSS	Colonic Mucosa	Colon
31	chr5:119793600-119794200	Active TSS	Duodenum Mucosa	Duodenum
32	chr5:119793600-119794200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:119793600-119794200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:119793600-119794200	Active TSS	Gastric	stomach
35	chr5:119793600-119794200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:119793600-119794200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr5:119793600-119794200	Active TSS	Rectal Smooth Muscle	rectum
38	chr5:119793600-119794200	Active TSS	Right Atrium	heart
39	chr5:119793600-119794200	Active TSS	Right Ventricle	heart
40	chr5:119793600-119794200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr5:119793600-119794200	Active TSS	Thymus	Thymus
42	chr5:119793600-119794200	Active TSS	A549	lung
43	chr5:119793600-119794200	Active TSS	K562	blood
44	chr5:119793800-119794000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:119793800-119794000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:119793800-119794000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:119793800-119794000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:119793800-119794000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr5:119793800-119794000	Enhancers	Ovary	ovary
50	chr5:119793800-119794200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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