Variant report

Variant	rs28699131
Chromosome Location	chr4:57943912-57943913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11573048	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11573056	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573059	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35281174	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
4	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
5	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
8	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:57937600-57944200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:57937800-57944000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
16	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
19	chr4:57939800-57944200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:57939800-57949800	Enhancers	HMEC	breast
21	chr4:57940000-57946200	Weak transcription	Lung	lung
22	chr4:57940800-57944200	Enhancers	A549	lung
23	chr4:57941200-57944000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:57941200-57944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:57941200-57944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:57941200-57944800	Weak transcription	Ovary	ovary
27	chr4:57941200-57945000	Weak transcription	Small Intestine	intestine
28	chr4:57941400-57944400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:57941400-57947000	Weak transcription	Brain Substantia Nigra	brain
30	chr4:57941800-57944600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:57941800-57945000	Weak transcription	Fetal Intestine Large	intestine
32	chr4:57942000-57944000	Strong transcription	HSMMtube	muscle
33	chr4:57942000-57945200	Weak transcription	Hela-S3	cervix
34	chr4:57942000-57947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:57942000-57947800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:57942200-57944000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:57942200-57945000	Weak transcription	NHDF-Ad	bronchial
38	chr4:57942200-57946600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:57942400-57945000	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:57942600-57945600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:57942800-57944000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:57942800-57944800	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:57942800-57945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:57942800-57947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:57942800-57947000	Enhancers	HUVEC	blood vessel
46	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
47	chr4:57943000-57944000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:57943000-57944600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:57943000-57944800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:57943000-57945000	Enhancers	NHEK	skin

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