Variant report

Variant	rs6554414
Chromosome Location	chr4:57961832-57961833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10010274	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1111626	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1111627	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1111628	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1111629	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11936912	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412787	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2899085	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4242005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309904	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242637	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7663799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
2	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
3	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:57956200-57964000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:57956400-57965400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:57957400-57967000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:57958000-57962600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:57958200-57964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:57958200-57965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:57958200-57967000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
17	chr4:57958400-57963400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:57958400-57967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:57958800-57967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:57960000-57962400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:57960000-57962400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:57960000-57962800	Enhancers	Colon Smooth Muscle	Colon
24	chr4:57960000-57966000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:57960200-57962200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:57960200-57962600	Enhancers	Right Ventricle	heart
27	chr4:57960200-57962600	Enhancers	NHDF-Ad	bronchial
28	chr4:57960200-57963000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:57960400-57962000	Enhancers	HSMM	muscle
30	chr4:57960400-57962200	Enhancers	Left Ventricle	heart
31	chr4:57960400-57962600	Enhancers	HUVEC	blood vessel
32	chr4:57960400-57963000	Genic enhancers	NH-A	brain
33	chr4:57960600-57962400	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:57960600-57964400	Weak transcription	Fetal Lung	lung
35	chr4:57960600-57968600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:57960800-57962400	Weak transcription	Psoas Muscle	Psoas
37	chr4:57960800-57963000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr4:57960800-57963400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:57961000-57962800	Genic enhancers	NHEK	skin
40	chr4:57961000-57964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:57961000-57964200	Weak transcription	Adipose Nuclei	Adipose
42	chr4:57961200-57962000	Enhancers	Osteobl	bone
43	chr4:57961200-57963800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:57961200-57964000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:57961200-57964000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:57961200-57964200	Weak transcription	Lung	lung
47	chr4:57961200-57964200	Weak transcription	Pancreas	Pancrea
48	chr4:57961200-57964600	Weak transcription	Ovary	ovary
49	chr4:57961200-57967000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:57961200-57967200	Weak transcription	Rectal Mucosa Donor 31	rectum

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