Variant report

Variant	rs2129618
Chromosome Location	chr8:48556119-48556120
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	chr8:48554598..48556958-chr8:48557992..48560714,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10957549	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10957644	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10958058	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1106607	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778548	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11782572	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11784823	0.91[EUR][1000 genomes]
rs12544329	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12549996	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12675378	0.92[EUR][1000 genomes]
rs12678110	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16928696	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2129617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130412	0.91[EUR][1000 genomes]
rs2130413	0.92[EUR][1000 genomes]
rs4489323	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4536257	0.85[EUR][1000 genomes]
rs4608108	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873368	0.89[EUR][1000 genomes]
rs4873395	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4873399	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873437	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873507	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873529	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873565	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873619	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55941013	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56092229	0.96[EUR][1000 genomes]
rs62539116	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62539144	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62539147	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62539150	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6982620	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6987043	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989917	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7014443	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs876915	0.89[EUR][1000 genomes]
rs923499	0.90[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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:48540600-48556600	Weak transcription	Right Ventricle	heart
6	chr8:48541200-48556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:48541600-48556600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:48543800-48556600	Weak transcription	Liver	Liver
9	chr8:48543800-48556600	Weak transcription	Gastric	stomach
10	chr8:48543800-48559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:48546000-48556400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:48546000-48557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:48546200-48556600	Weak transcription	A549	lung
14	chr8:48546200-48562000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:48546400-48556400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:48546400-48556600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:48546600-48556400	Weak transcription	HepG2	liver
19	chr8:48547000-48556600	Weak transcription	Pancreas	Pancrea
20	chr8:48547400-48556400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:48547400-48556600	Weak transcription	Left Ventricle	heart
22	chr8:48547600-48556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:48549200-48556600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:48549600-48556200	Weak transcription	Dnd41	blood
25	chr8:48551200-48556600	Weak transcription	Right Atrium	heart
26	chr8:48551600-48556600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:48551800-48556400	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:48551800-48556400	Weak transcription	Fetal Heart	heart
29	chr8:48551800-48556600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:48552000-48557400	Weak transcription	HSMMtube	muscle
32	chr8:48552000-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:48552000-48564800	Weak transcription	HSMM	muscle
34	chr8:48552800-48556400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:48552800-48556600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:48552800-48564400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:48553000-48556600	Weak transcription	Psoas Muscle	Psoas
39	chr8:48553400-48565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:48553600-48556400	Weak transcription	NHEK	skin
41	chr8:48554000-48557600	Strong transcription	Fetal Stomach	stomach
42	chr8:48554600-48557400	Weak transcription	Ovary	ovary
43	chr8:48554800-48556600	Weak transcription	Fetal Lung	lung
44	chr8:48554800-48556600	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:48554800-48556600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:48554800-48556800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:48554800-48556800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:48554800-48557000	Weak transcription	Fetal Intestine Large	intestine
49	chr8:48554800-48557400	Weak transcription	Aorta	Aorta
50	chr8:48554800-48557400	Weak transcription	Spleen	Spleen

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