Variant report

Variant	rs17183291
Chromosome Location	chr4:57933390-57933391
allele	A/T
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: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10016108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11133472	1.00[CHB][hapmap]
rs11573041	1.00[CHB][hapmap]
rs11573128	1.00[CHB][hapmap]
rs11732394	1.00[CHB][hapmap]
rs13125082	1.00[CHB][hapmap]
rs13146090	1.00[CHB][hapmap]
rs13146153	1.00[CHB][hapmap]
rs1618761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17087358	1.00[CHB][hapmap]
rs1718846	1.00[CHB][hapmap]
rs1718848	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs17787430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35174788	0.87[ASN][1000 genomes]
rs4109037	1.00[CHB][hapmap]
rs41495551	1.00[CHB][hapmap]
rs4865175	0.87[ASN][1000 genomes]
rs4865176	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4865177	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs62308281	0.87[ASN][1000 genomes]
rs62308282	0.87[ASN][1000 genomes]
rs6554413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67355508	0.87[ASN][1000 genomes]
rs73242639	0.87[ASN][1000 genomes]
rs7656865	1.00[CHB][hapmap];0.83[MKK][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17183291	SRP72	cis	cerebellum	SCAN
rs17183291	POLR2B	cis	cerebellum	SCAN

Chromatin state (count:60 , 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	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
5	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
7	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
11	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
12	chr4:57932000-57935800	Strong transcription	NHEK	skin
13	chr4:57932200-57934200	Weak transcription	Fetal Heart	heart
14	chr4:57932200-57934600	Weak transcription	Fetal Lung	lung
15	chr4:57932200-57935200	Weak transcription	Aorta	Aorta
16	chr4:57932200-57935200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:57932200-57935200	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:57932200-57935400	Weak transcription	Lung	lung
19	chr4:57932400-57934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:57932400-57935000	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:57932400-57935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:57932400-57935800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:57932400-57936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:57932400-57936800	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
27	chr4:57932600-57933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:57932600-57934200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:57932600-57934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:57932600-57934200	Weak transcription	Left Ventricle	heart
31	chr4:57932600-57934200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:57932600-57934200	Weak transcription	HSMMtube	muscle
33	chr4:57932600-57934600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:57932600-57934600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:57932600-57934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:57932600-57934600	Weak transcription	Right Atrium	heart
37	chr4:57932600-57934600	Weak transcription	HSMM	muscle
38	chr4:57932600-57934800	Weak transcription	HUVEC	blood vessel
39	chr4:57932600-57935000	Weak transcription	Psoas Muscle	Psoas
40	chr4:57932600-57935000	Weak transcription	Right Ventricle	heart
41	chr4:57932600-57935200	Weak transcription	Ovary	ovary
42	chr4:57932600-57935200	Weak transcription	Spleen	Spleen
43	chr4:57932600-57936000	Enhancers	A549	lung
44	chr4:57932600-57936600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:57932600-57936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:57932600-57936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:57932600-57937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:57932600-57937200	Weak transcription	Adipose Nuclei	Adipose
49	chr4:57932600-57937200	Weak transcription	Fetal Intestine Large	intestine
50	chr4:57932600-57937600	Weak transcription	Stomach Smooth Muscle	stomach

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