Variant report

Variant	rs4611987
Chromosome Location	chr4:57923981-57923982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10028733	1.00[JPT][hapmap]
rs11573083	1.00[JPT][hapmap]
rs11726321	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13107451	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1713961	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713962	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1713967	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1718834	0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1718835	1.00[JPT][hapmap]
rs1718873	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1718874	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1718883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554409	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap]
rs7670536	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][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
rs4611987	IGFBP7	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
4	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
6	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
7	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
8	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:57920400-57925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:57920400-57926200	Weak transcription	A549	lung
12	chr4:57920400-57930200	Weak transcription	Lung	lung
13	chr4:57920600-57924400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr4:57920600-57927600	Weak transcription	HMEC	breast
15	chr4:57921000-57924200	Strong transcription	Osteobl	bone
16	chr4:57921000-57926800	Weak transcription	Small Intestine	intestine
17	chr4:57921000-57931000	Weak transcription	NHEK	skin
18	chr4:57921200-57924800	Enhancers	Right Ventricle	heart
19	chr4:57921400-57924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:57921800-57924000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:57921800-57928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:57922000-57926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:57922400-57924000	Enhancers	Fetal Stomach	stomach
24	chr4:57922600-57924200	Enhancers	Colon Smooth Muscle	Colon
25	chr4:57922600-57924200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr4:57922600-57924200	Enhancers	Ovary	ovary
27	chr4:57922600-57924200	Enhancers	Right Atrium	heart
28	chr4:57922800-57924000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:57922800-57924200	Enhancers	Fetal Heart	heart
30	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:57923000-57924200	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:57923000-57924200	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:57923000-57926200	Weak transcription	NHLF	lung
34	chr4:57923000-57928600	Weak transcription	Psoas Muscle	Psoas
35	chr4:57923000-57929200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:57923000-57930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:57923000-57931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:57923200-57924200	Enhancers	Aorta	Aorta
41	chr4:57923200-57926400	Weak transcription	NH-A	brain
42	chr4:57923400-57926600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:57923400-57926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:57923600-57924200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:57923600-57924200	Strong transcription	HSMM	muscle
46	chr4:57923600-57924200	Genic enhancers	HSMMtube	muscle
47	chr4:57923600-57924400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:57923600-57928800	Weak transcription	Fetal Lung	lung
49	chr4:57923800-57924000	Enhancers	Brain Anterior Caudate	brain
50	chr4:57923800-57924000	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links