Variant report

Variant	rs72722353
Chromosome Location	chr8:131145058-131145059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72720341	1.00[AFR][1000 genomes]
rs72720360	1.00[AFR][1000 genomes]
rs72724429	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724440	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
4	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
6	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
8	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:131130800-131146000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:131133000-131147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:131135600-131147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:131137600-131146000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
15	chr8:131138400-131146400	Strong transcription	HSMM	muscle
16	chr8:131138800-131146400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:131139200-131146000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr8:131139200-131146000	Weak transcription	Hela-S3	cervix
21	chr8:131139200-131146200	Strong transcription	Osteobl	bone
22	chr8:131139400-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:131140000-131147000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:131140000-131148000	Weak transcription	Fetal Heart	heart
25	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:131140200-131146200	Weak transcription	K562	blood
28	chr8:131140200-131146800	Weak transcription	Fetal Kidney	kidney
29	chr8:131140400-131146000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:131140400-131146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:131140400-131146000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:131140400-131146000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:131140400-131148200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:131142000-131146200	Strong transcription	NH-A	brain
36	chr8:131142000-131150800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:131142200-131151400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:131142200-131153000	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:131142600-131147000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:131142600-131147200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:131142800-131147600	Strong transcription	Left Ventricle	heart
42	chr8:131142800-131150400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:131142800-131151800	Strong transcription	Primary T cells from cord blood	blood
44	chr8:131143000-131146000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:131143000-131146800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:131143000-131146800	Strong transcription	HSMMtube	muscle
47	chr8:131143000-131148600	Strong transcription	Fetal Intestine Small	intestine
48	chr8:131143000-131148800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:131143000-131149200	Strong transcription	Liver	Liver
50	chr8:131143000-131150000	Strong transcription	Stomach Smooth Muscle	stomach

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