Variant report

Variant	rs7824058
Chromosome Location	chr8:120609906-120609907
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120608131..120610098-chr8:120613256..120615439,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10505369	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16892820	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16892826	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16892856	1.00[AFR][1000 genomes]
rs16892858	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16892860	1.00[EUR][1000 genomes]
rs16892861	1.00[EUR][1000 genomes]
rs16892869	1.00[EUR][1000 genomes]
rs16892873	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58611549	1.00[EUR][1000 genomes]
rs60250385	1.00[EUR][1000 genomes]
rs61753743	0.83[EUR][1000 genomes]
rs6469834	1.00[EUR][1000 genomes]
rs6988878	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7813069	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7842699	1.00[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
2	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
3	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
6	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
7	chr8:120599200-120612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:120599800-120613600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:120599800-120614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:120600000-120610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
13	chr8:120601800-120610800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:120601800-120614600	Weak transcription	Osteobl	bone
15	chr8:120602000-120613400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:120602000-120614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:120602000-120627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:120602800-120612400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:120603000-120613200	Strong transcription	NHDF-Ad	bronchial
20	chr8:120606200-120611600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:120607000-120614000	Strong transcription	Adipose Nuclei	Adipose
22	chr8:120607800-120613000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:120607800-120626600	Weak transcription	Liver	Liver
24	chr8:120608200-120610000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:120608200-120610000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:120608200-120610200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:120608400-120611000	Weak transcription	Fetal Lung	lung
28	chr8:120608800-120610000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:120608800-120610000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:120609400-120610000	Enhancers	Brain Substantia Nigra	brain
31	chr8:120609400-120612400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:120609600-120610000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:120609600-120610200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:120609600-120611000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:120609600-120611200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:120609600-120614800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:120609800-120610000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:120609800-120610000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:120609800-120610000	Enhancers	Brain Angular Gyrus	brain
40	chr8:120609800-120610200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:120609800-120610200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:120609800-120614200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:120609800-120617400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:120609800-120623600	Weak transcription	Placenta	Placenta

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