Variant report

Variant	rs4611988
Chromosome Location	chr4:57963172-57963173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10002669	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013983	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573014	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573018	0.91[EUR][1000 genomes]
rs17183761	1.00[ASW][hapmap]
rs28405417	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34816319	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67057259	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847938	1.00[ASN][1000 genomes]
rs71601676	0.93[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4611988	IGFBP7	cis	multi-tissue	Pritchard

Chromatin state (count:70 , 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	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:57958200-57964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:57958200-57965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:57958200-57967000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
16	chr4:57958400-57963400	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:57958400-57967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:57958800-57967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:57960000-57966000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:57960600-57964400	Weak transcription	Fetal Lung	lung
22	chr4:57960600-57968600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:57960800-57963400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:57961000-57964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:57961000-57964200	Weak transcription	Adipose Nuclei	Adipose
26	chr4:57961200-57963800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:57961200-57964000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:57961200-57964000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:57961200-57964200	Weak transcription	Lung	lung
30	chr4:57961200-57964200	Weak transcription	Pancreas	Pancrea
31	chr4:57961200-57964600	Weak transcription	Ovary	ovary
32	chr4:57961200-57967000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:57961200-57967200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:57961400-57964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:57961400-57964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:57961400-57968200	Weak transcription	Brain Substantia Nigra	brain
37	chr4:57961400-57969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:57961600-57963400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:57961600-57963800	Weak transcription	Fetal Heart	heart
40	chr4:57961600-57964000	Strong transcription	HSMMtube	muscle
41	chr4:57961600-57965200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:57961600-57966600	Enhancers	A549	lung
43	chr4:57961800-57963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:57961800-57964400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:57961800-57964600	Enhancers	Aorta	Aorta
46	chr4:57961800-57968200	Weak transcription	HMEC	breast
47	chr4:57962000-57964400	Weak transcription	HSMM	muscle
48	chr4:57962000-57965000	Genic enhancers	Osteobl	bone
49	chr4:57962200-57964000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:57962200-57964000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links