Variant report

Variant	rs1522608
Chromosome Location	chr4:57932696-57932697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:57930255-57932698	IMR90	lung:	n/a	n/a
2	RAD21	chr4:57932302-57932729	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57929098..57931213-chr4:57932112..57933696,2	K562	blood:

Variant related genes	Relation type
IGFBP7	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1277293	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1714022	0.83[ASN][1000 genomes]
rs1718854	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1718856	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6827930	1.00[JPT][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

No data

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	chr4:57929800-57932800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
8	chr4:57931200-57933000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:57931400-57932800	Enhancers	NHDF-Ad	bronchial
13	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
14	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
15	chr4:57932000-57935800	Strong transcription	NHEK	skin
16	chr4:57932200-57932800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:57932200-57932800	Enhancers	NH-A	brain
18	chr4:57932200-57933000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:57932200-57933000	Enhancers	NHLF	lung
20	chr4:57932200-57933200	Weak transcription	HMEC	breast
21	chr4:57932200-57934200	Weak transcription	Fetal Heart	heart
22	chr4:57932200-57934600	Weak transcription	Fetal Lung	lung
23	chr4:57932200-57935200	Weak transcription	Aorta	Aorta
24	chr4:57932200-57935200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:57932200-57935200	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:57932200-57935400	Weak transcription	Lung	lung
27	chr4:57932400-57933000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:57932400-57934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:57932400-57935000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:57932400-57935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:57932400-57935800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:57932400-57936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:57932400-57936800	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
36	chr4:57932600-57933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:57932600-57934200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:57932600-57934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:57932600-57934200	Weak transcription	Left Ventricle	heart
40	chr4:57932600-57934200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:57932600-57934200	Weak transcription	HSMMtube	muscle
42	chr4:57932600-57934600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:57932600-57934600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:57932600-57934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:57932600-57934600	Weak transcription	Right Atrium	heart
46	chr4:57932600-57934600	Weak transcription	HSMM	muscle
47	chr4:57932600-57934800	Weak transcription	HUVEC	blood vessel
48	chr4:57932600-57935000	Weak transcription	Psoas Muscle	Psoas
49	chr4:57932600-57935000	Weak transcription	Right Ventricle	heart
50	chr4:57932600-57935200	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links