Variant report

Variant	rs6554415
Chromosome Location	chr4:57967468-57967469
allele	C/T
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:25)

rs_ID	r²[population]
rs10029224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10029500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11133485	0.94[AFR][1000 genomes]
rs4242006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4262036	1.00[AMR][1000 genomes]
rs4317262	1.00[AMR][1000 genomes]
rs4326070	1.00[AMR][1000 genomes]
rs4346709	1.00[AMR][1000 genomes]
rs4504318	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4515224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4579185	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4590105	1.00[AMR][1000 genomes]
rs4600977	1.00[AMR][1000 genomes]
rs4865184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865185	1.00[AMR][1000 genomes]
rs4865186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865190	1.00[AMR][1000 genomes]
rs6554416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554417	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6810409	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839914	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850578	1.00[AMR][1000 genomes]
rs7666436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9992230	1.00[AMR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
7	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57960600-57968600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:57961400-57968200	Weak transcription	Brain Substantia Nigra	brain
10	chr4:57961400-57969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:57961800-57968200	Weak transcription	HMEC	breast
12	chr4:57963800-57969600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:57963800-57969800	Enhancers	Fetal Heart	heart
14	chr4:57963800-57970600	Enhancers	NHDF-Ad	bronchial
15	chr4:57964000-57968000	Genic enhancers	NH-A	brain
16	chr4:57964000-57973200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:57964200-57972200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:57964400-57967600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:57964600-57973200	Weak transcription	Pancreas	Pancrea
20	chr4:57964800-57967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:57965000-57968200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:57965000-57968400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:57965000-57968600	Weak transcription	Colonic Mucosa	Colon
24	chr4:57965000-57969200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:57965200-57968000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:57965200-57968000	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:57965400-57968000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:57965600-57967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:57965600-57969600	Enhancers	Ovary	ovary
30	chr4:57965600-57972600	Weak transcription	Thymus	Thymus
31	chr4:57965800-57968000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:57965800-57968000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:57965800-57968200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:57965800-57968200	Weak transcription	Brain Anterior Caudate	brain
35	chr4:57965800-57968400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:57965800-57969200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:57966000-57967600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:57966000-57967800	Weak transcription	HSMM	muscle
39	chr4:57966000-57968200	Weak transcription	NHEK	skin
40	chr4:57966000-57969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:57966200-57967600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:57966200-57967800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:57966200-57975200	Weak transcription	Lung	lung
44	chr4:57966400-57968200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:57966400-57969000	Weak transcription	Fetal Thymus	thymus
46	chr4:57966600-57968800	Weak transcription	Aorta	Aorta
47	chr4:57966600-57969800	Enhancers	Fetal Kidney	kidney
48	chr4:57966800-57967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:57966800-57968200	Genic enhancers	HUVEC	blood vessel
50	chr4:57966800-57969800	Enhancers	Colon Smooth Muscle	Colon

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