Variant report

Variant	rs28924693
Chromosome Location	chr8:107757293-107757294
allele	A/G
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:24)

rs_ID	r²[population]
rs1080966	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13257240	0.83[AMR][1000 genomes]
rs16875042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16875077	1.00[EUR][1000 genomes]
rs17258979	0.82[AMR][1000 genomes]
rs2035514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28921377	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28921399	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28921400	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28921407	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28924682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28924699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3739323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56171452	1.00[EUR][1000 genomes]
rs57273012	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57378512	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57400955	0.82[AMR][1000 genomes]
rs73699979	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699980	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699981	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73699998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7831263	0.94[AMR][1000 genomes]
rs7843781	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107719600-107762400	Weak transcription	Lung	lung
2	chr8:107719600-107765600	Weak transcription	Colonic Mucosa	Colon
3	chr8:107719600-107775200	Weak transcription	Gastric	stomach
4	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
5	chr8:107739000-107758000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:107739000-107775200	Weak transcription	A549	lung
7	chr8:107739200-107760800	Weak transcription	Fetal Stomach	stomach
8	chr8:107740000-107759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:107740000-107775200	Weak transcription	Ovary	ovary
10	chr8:107740200-107767400	Weak transcription	K562	blood
11	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
12	chr8:107740800-107775200	Weak transcription	Brain Substantia Nigra	brain
13	chr8:107741000-107768200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:107747000-107757800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:107747000-107768000	Weak transcription	Small Intestine	intestine
16	chr8:107748600-107760400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:107749000-107761200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:107749200-107765000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:107749400-107775200	Weak transcription	HMEC	breast
20	chr8:107749800-107760800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:107750600-107758600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:107751000-107764800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:107751400-107757400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:107751400-107758000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:107751600-107757400	Strong transcription	Adipose Nuclei	Adipose
26	chr8:107751600-107757800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:107751600-107757800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:107751600-107761000	Strong transcription	Primary B cells from cord blood	blood
29	chr8:107751600-107763000	Weak transcription	HSMMtube	muscle
30	chr8:107752800-107757400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:107753000-107762800	Weak transcription	Aorta	Aorta
32	chr8:107753200-107771400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:107753600-107757600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:107753600-107763600	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:107753600-107777400	Weak transcription	HUVEC	blood vessel
36	chr8:107753800-107758000	Weak transcription	NHEK	skin
37	chr8:107753800-107775200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:107754200-107775200	Weak transcription	Pancreas	Pancrea
39	chr8:107754400-107766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:107754600-107757800	Weak transcription	HepG2	liver
41	chr8:107754800-107775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:107755000-107757800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:107755200-107764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:107755200-107772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:107755400-107757800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:107755400-107771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:107755600-107763600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:107755800-107758000	Weak transcription	Thymus	Thymus
49	chr8:107755800-107760800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:107755800-107760800	Weak transcription	Fetal Intestine Small	intestine

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