Variant report

Variant	rs4492407
Chromosome Location	chr8:117702134-117702135
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	chr8:117700895..117702576-chr8:117705776..117708112,2	K562	blood:
2	chr8:117700137..117702549-chr8:117708325..117710386,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087312	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10105870	0.80[EUR][1000 genomes]
rs10112726	0.81[EUR][1000 genomes]
rs10505289	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1133950	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16888613	0.91[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16888689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16888720	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28554010	0.81[EUR][1000 genomes]
rs4602925	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60927118	0.81[EUR][1000 genomes]
rs7004565	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72681690	0.93[EUR][1000 genomes]
rs72681701	0.91[EUR][1000 genomes]
rs921066	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:117670200-117707000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:117671000-117717600	Weak transcription	HepG2	liver
5	chr8:117674800-117706800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:117678200-117705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:117679000-117703200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:117682800-117703400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:117682800-117707400	Weak transcription	Right Atrium	heart
10	chr8:117685400-117707200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:117686200-117703200	Weak transcription	GM12878-XiMat	blood
12	chr8:117690000-117707000	Weak transcription	Primary B cells from cord blood	blood
13	chr8:117694600-117703200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:117695600-117704400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:117695600-117707600	Weak transcription	Dnd41	blood
16	chr8:117697000-117704800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:117697200-117702400	Weak transcription	Brain Anterior Caudate	brain
18	chr8:117697400-117703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:117698000-117703200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:117698000-117711200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:117698200-117702600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:117698200-117702800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:117698200-117707400	Weak transcription	Gastric	stomach
24	chr8:117698400-117702600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:117698400-117713400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:117698800-117702600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:117698800-117702600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:117698800-117704200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:117699000-117702400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:117699000-117703600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:117699000-117703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:117699000-117704400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:117699000-117719000	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:117699400-117702400	Weak transcription	Fetal Stomach	stomach
35	chr8:117699400-117702600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:117699400-117702600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:117699400-117703400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:117699400-117703400	Weak transcription	Left Ventricle	heart
39	chr8:117699400-117705800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:117699400-117705800	Weak transcription	Ovary	ovary
41	chr8:117699400-117707000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:117699400-117707200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:117699400-117707400	Weak transcription	Right Ventricle	heart
44	chr8:117699400-117707600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:117699400-117707600	Weak transcription	Psoas Muscle	Psoas
46	chr8:117699600-117702600	Weak transcription	Small Intestine	intestine
47	chr8:117699600-117702800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:117699600-117705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:117699600-117707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:117699800-117703800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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