Variant report

Variant	rs72688224
Chromosome Location	chr8:120600970-120600971
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	chr8:120588682..120590433-chr8:120600197..120602322,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17803228	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66698379	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72688225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688226	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688230	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688231	0.87[AMR][1000 genomes];0.95[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
3	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
6	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
7	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:120595600-120601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120595600-120601400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
13	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
14	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
15	chr8:120598400-120601800	Genic enhancers	Adipose Nuclei	Adipose
16	chr8:120598800-120601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:120599000-120601600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:120599000-120602000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:120599200-120601000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:120599200-120608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:120599200-120612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:120599400-120603200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:120599400-120609000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:120599600-120601000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:120599600-120601000	Weak transcription	Brain Substantia Nigra	brain
26	chr8:120599600-120601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:120599800-120601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:120599800-120601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:120599800-120601400	Weak transcription	HSMM	muscle
30	chr8:120599800-120602000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:120599800-120605600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:120599800-120609800	Weak transcription	Brain Angular Gyrus	brain
33	chr8:120599800-120613600	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:120599800-120614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:120600000-120602200	Weak transcription	Placenta	Placenta
36	chr8:120600000-120603400	Strong transcription	Fetal Lung	lung
37	chr8:120600000-120605400	Weak transcription	Liver	Liver
38	chr8:120600000-120610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
41	chr8:120600200-120601000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:120600200-120601000	Weak transcription	Osteobl	bone
43	chr8:120600200-120609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:120600600-120601000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:120600600-120602200	Enhancers	NHLF	lung
46	chr8:120600600-120605200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:120600800-120601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:120600800-120601000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:120600800-120601000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:120600800-120601200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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