Variant report

Variant	rs17183073
Chromosome Location	chr4:57931080-57931081
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	chr4:57929098..57931213-chr4:57932112..57933696,2	K562	blood:

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

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

rs_ID	r²[population]
rs10516162	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11938043	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17183228	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17183249	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17761305	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17787988	0.83[AMR][1000 genomes]
rs3849657	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3849658	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3986230	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4864611	0.83[EUR][1000 genomes]
rs4865174	0.83[AMR][1000 genomes]
rs58389605	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60727341	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62308265	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6829171	0.83[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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:57924000-57931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57924200-57931200	Weak transcription	Spleen	Spleen
9	chr4:57926000-57931800	Genic enhancers	HSMMtube	muscle
10	chr4:57926600-57932600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:57927000-57932600	Enhancers	Left Ventricle	heart
12	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
13	chr4:57927600-57932600	Enhancers	Right Atrium	heart
14	chr4:57927800-57931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:57928000-57931400	Weak transcription	HMEC	breast
16	chr4:57928200-57932400	Enhancers	Colon Smooth Muscle	Colon
17	chr4:57928400-57932200	Enhancers	Fetal Heart	heart
18	chr4:57928400-57932600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:57928800-57932200	Enhancers	Fetal Lung	lung
20	chr4:57929000-57931400	Enhancers	HUVEC	blood vessel
21	chr4:57929000-57932000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:57929000-57932400	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:57929200-57931200	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:57929200-57931600	Enhancers	Hela-S3	cervix
25	chr4:57929400-57931600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:57929400-57932600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:57929600-57931200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:57929800-57931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:57929800-57931800	Enhancers	Fetal Stomach	stomach
31	chr4:57929800-57931800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:57929800-57932800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:57930000-57932600	Enhancers	Right Ventricle	heart
34	chr4:57930200-57931400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:57930200-57931400	Flanking Active TSS	A549	lung
36	chr4:57930200-57932200	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:57930200-57932200	Enhancers	Lung	lung
38	chr4:57930200-57932600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:57930200-57932600	Enhancers	HSMM	muscle
40	chr4:57930400-57931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:57930600-57931200	Weak transcription	Ovary	ovary
42	chr4:57930600-57931400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:57930600-57932200	Weak transcription	Psoas Muscle	Psoas
44	chr4:57930800-57931200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:57930800-57931600	Flanking Active TSS	Osteobl	bone
46	chr4:57930800-57932200	Enhancers	Aorta	Aorta
47	chr4:57930800-57932200	Flanking Active TSS	NH-A	brain
48	chr4:57930800-57932400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
50	chr4:57931000-57931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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