Variant report

Variant	rs73223571
Chromosome Location	chr7:124532750-124532751
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34226992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73223552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73225453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73225456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73225457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73227508	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription 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	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
3	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:124466800-124540800	Weak transcription	Gastric	stomach
6	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
7	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
8	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:124506600-124540600	Weak transcription	Aorta	Aorta
11	chr7:124506800-124540600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:124518000-124535200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:124520200-124534400	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:124520400-124534600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:124520400-124534800	Weak transcription	Brain Substantia Nigra	brain
16	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:124525600-124535200	Weak transcription	Psoas Muscle	Psoas
18	chr7:124527200-124532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:124527200-124537400	Weak transcription	HMEC	breast
20	chr7:124527600-124532800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:124527600-124533000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:124527600-124562200	Weak transcription	A549	lung
23	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:124527800-124540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:124527800-124540800	Weak transcription	Placenta	Placenta
27	chr7:124528000-124567400	Weak transcription	HepG2	liver
28	chr7:124528200-124532800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:124528400-124542800	Weak transcription	Spleen	Spleen
30	chr7:124528600-124532800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:124528600-124532800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:124528600-124532800	Strong transcription	Liver	Liver
33	chr7:124528600-124538800	Weak transcription	Brain Germinal Matrix	brain
34	chr7:124528800-124532800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:124528800-124532800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:124528800-124540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:124529000-124532800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:124529000-124532800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr7:124529000-124534000	Strong transcription	Dnd41	blood
40	chr7:124529200-124533200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:124529200-124533600	Weak transcription	Colonic Mucosa	Colon
42	chr7:124529200-124542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:124529400-124532800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:124530000-124532800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:124530000-124540800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:124530200-124533000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:124530200-124540600	Weak transcription	Fetal Muscle Leg	muscle

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