Variant report

Variant	rs73750922
Chromosome Location	chr5:37066587-37066588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37061225..37064092-chr5:37066465..37067982,2	MCF-7	breast:
2	chr5:37058454..37060684-chr5:37064235..37067128,2	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55780492	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55964759	0.81[AFR][1000 genomes]
rs59075952	1.00[AMR][1000 genomes]
rs59763526	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60213369	0.91[AFR][1000 genomes]
rs61745362	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6859950	1.00[AMR][1000 genomes]
rs6864648	1.00[AMR][1000 genomes]
rs6876937	1.00[AMR][1000 genomes]
rs73750914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750926	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750953	1.00[AMR][1000 genomes]
rs7712558	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:37035400-37071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:37037600-37067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:37038200-37067200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:37044000-37067200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:37044200-37066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:37051000-37069200	Weak transcription	Fetal Heart	heart
9	chr5:37053400-37072000	Weak transcription	NHLF	lung
10	chr5:37054600-37071200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:37055400-37068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:37055800-37071000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:37056800-37067200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:37057000-37066800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:37057200-37066800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:37057200-37067000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:37057200-37067000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:37057200-37067000	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:37057200-37067200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:37057600-37066800	Strong transcription	Hela-S3	cervix
21	chr5:37058600-37090000	Weak transcription	Right Ventricle	heart
22	chr5:37059600-37071000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:37060600-37079800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:37060800-37066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:37061000-37076800	Weak transcription	A549	lung
26	chr5:37061200-37096800	Weak transcription	Psoas Muscle	Psoas
27	chr5:37061200-37103400	Weak transcription	Fetal Kidney	kidney
28	chr5:37061800-37079600	Weak transcription	Aorta	Aorta
29	chr5:37063400-37067000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:37064200-37073000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:37064200-37105000	Weak transcription	Fetal Brain Male	brain
32	chr5:37064600-37104000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:37064800-37070600	Weak transcription	NHDF-Ad	bronchial
34	chr5:37064800-37071600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:37064800-37072400	Weak transcription	HepG2	liver
36	chr5:37064800-37086800	Weak transcription	Pancreas	Pancrea
37	chr5:37064800-37087000	Weak transcription	Colonic Mucosa	Colon
38	chr5:37064800-37093600	Weak transcription	Brain Germinal Matrix	brain
39	chr5:37065000-37066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:37065000-37066800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:37065000-37066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:37065000-37066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:37065000-37067200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:37065000-37067400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:37065000-37068200	Weak transcription	Ovary	ovary
46	chr5:37065000-37068400	Weak transcription	K562	blood
47	chr5:37065000-37069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:37065000-37070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:37065000-37071400	Weak transcription	Brain Substantia Nigra	brain
50	chr5:37065000-37071600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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