Variant report

Variant	rs73793869
Chromosome Location	chr5:145583259-145583260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:73159944..73160587-chr5:145583064..145583574,2	Hela-S3	cervix:
2	chr5:145559594..145562426-chr5:145581996..145584629,4	MCF-7	breast:
3	chr5:145558307..145563846-chr5:145580315..145584343,10	K562	blood:
4	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
5	chr5:145553826..145555566-chr5:145583178..145584730,2	K562	blood:
6	chr14:21566818..21567426-chr5:145582956..145583681,2	Hela-S3	cervix:
7	chr5:145560592..145565120-chr5:145580444..145584486,7	K562	blood:

Variant related genes	Relation type
ENSG00000165804	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000133706	Chromatin interaction
ENSG00000232070	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56013882	0.83[AFR][1000 genomes]
rs56393547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57605364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57650885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58281516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58508858	0.82[AFR][1000 genomes]
rs58640165	0.87[AFR][1000 genomes]
rs59545810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6580412	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315779	0.82[AFR][1000 genomes]
rs73317823	0.89[AFR][1000 genomes]
rs73317824	0.89[AFR][1000 genomes]
rs73317840	0.92[AFR][1000 genomes]
rs73317848	0.92[AFR][1000 genomes]
rs73317879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793852	0.82[AFR][1000 genomes]
rs73793896	0.81[AFR][1000 genomes];1.00[AMR][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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 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	chr5:145582000-145583800	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr5:145582000-145583800	Active TSS	Brain Substantia Nigra	brain
3	chr5:145582000-145583800	Active TSS	Duodenum Mucosa	Duodenum
4	chr5:145582000-145583800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr5:145582000-145583800	Active TSS	Fetal Brain Male	brain
6	chr5:145582000-145583800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr5:145582000-145584000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:145582000-145584200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:145582000-145584400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:145582000-145584800	Active TSS	Hela-S3	cervix
11	chr5:145582000-145585200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:145582000-145585400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:145582000-145585800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:145582200-145583600	Active TSS	HepG2	liver
15	chr5:145582200-145583800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr5:145582200-145583800	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:145582200-145584000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:145582200-145584200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:145582200-145584200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:145582200-145584200	Active TSS	Fetal Intestine Small	intestine
21	chr5:145582200-145584400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:145582200-145584400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:145582200-145584400	Active TSS	Aorta	Aorta
24	chr5:145582200-145584400	Active TSS	Fetal Thymus	thymus
25	chr5:145582200-145584400	Active TSS	Ovary	ovary
26	chr5:145582200-145584400	Active TSS	Right Atrium	heart
27	chr5:145582200-145584600	Active TSS	HSMM	muscle
28	chr5:145582200-145584800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:145582200-145585000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:145582200-145585200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr5:145582200-145585600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:145582200-145585800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:145582400-145583600	Active TSS	Primary T cells from cord blood	blood
34	chr5:145582400-145583600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:145582400-145583800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:145582400-145583800	Active TSS	Liver	Liver
37	chr5:145582400-145583800	Active TSS	Brain Hippocampus Middle	brain
38	chr5:145582400-145583800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:145582400-145583800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:145582400-145583800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr5:145582400-145583800	Active TSS	Rectal Smooth Muscle	rectum
42	chr5:145582400-145583800	Active TSS	Stomach Mucosa	stomach
43	chr5:145582400-145583800	Active TSS	Dnd41	blood
44	chr5:145582400-145584000	Active TSS	Colon Smooth Muscle	Colon
45	chr5:145582400-145584000	Active TSS	Placenta	Placenta
46	chr5:145582400-145584000	Active TSS	Left Ventricle	heart
47	chr5:145582400-145584000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:145582400-145584000	Active TSS	Thymus	Thymus
49	chr5:145582400-145584200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:145582400-145584200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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