Variant report

Variant	rs72958758
Chromosome Location	chr1:92737719-92737720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs35258161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56871729	1.00[AFR][1000 genomes]
rs56950188	1.00[AFR][1000 genomes]
rs59302389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59912348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60450096	0.93[AFR][1000 genomes]
rs61638989	1.00[AMR][1000 genomes]
rs72956870	1.00[AMR][1000 genomes]
rs72956883	1.00[AMR][1000 genomes]
rs72958741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958744	0.93[AFR][1000 genomes]
rs72958751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960828	0.93[AFR][1000 genomes]
rs72960867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531207	1.00[AMR][1000 genomes]
rs7538609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised 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	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
7	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
8	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:92710600-92764000	Weak transcription	Gastric	stomach
10	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
11	chr1:92711200-92738200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:92711200-92742800	Weak transcription	NHLF	lung
13	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
15	chr1:92715600-92738200	Weak transcription	K562	blood
16	chr1:92718000-92738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:92719400-92745000	Weak transcription	Esophagus	oesophagus
18	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
19	chr1:92719600-92760800	Weak transcription	Fetal Heart	heart
20	chr1:92720000-92763800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:92720200-92739000	Weak transcription	Aorta	Aorta
22	chr1:92720400-92748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:92721600-92742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:92722400-92763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:92723000-92763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:92724000-92760600	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:92724200-92740800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:92724200-92745000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:92724200-92746200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:92724200-92746400	Strong transcription	Dnd41	blood
31	chr1:92724400-92740000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:92724400-92746400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:92724400-92746600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:92724600-92763800	Weak transcription	Brain Substantia Nigra	brain
35	chr1:92724800-92747400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:92725600-92738200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:92725800-92764000	Weak transcription	Colonic Mucosa	Colon
38	chr1:92726200-92738800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:92726400-92742400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:92726800-92746400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:92727000-92763800	Weak transcription	Right Ventricle	heart
42	chr1:92727200-92740400	Weak transcription	Osteobl	bone
43	chr1:92727200-92742000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:92727200-92745200	Weak transcription	Lung	lung
45	chr1:92727200-92759200	Weak transcription	A549	lung
46	chr1:92727200-92763800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:92728400-92739200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:92729800-92763800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:92730800-92739800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:92731200-92738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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