Variant report

Variant	rs11726359
Chromosome Location	chr4:7963228-7963229
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	chr4:7961563..7964655-chr4:7964819..7967108,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10008860	0.85[EUR][1000 genomes]
rs11722433	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730568	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731931	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733842	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28850594	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55943378	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73214069	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11726359	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7958600-7964600	Weak transcription	Gastric	stomach
2	chr4:7959400-7971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:7960000-7963800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:7960600-7963600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:7960600-7964800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:7960800-7963400	Enhancers	Placenta	Placenta
7	chr4:7960800-7963800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:7961000-7964400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:7961200-7963600	Enhancers	Fetal Stomach	stomach
10	chr4:7961600-7963400	Enhancers	Brain Germinal Matrix	brain
11	chr4:7961600-7963600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:7961600-7963600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:7961600-7963800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:7961800-7963400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:7961800-7963400	Enhancers	Stomach Mucosa	stomach
16	chr4:7961800-7963400	Enhancers	HUVEC	blood vessel
17	chr4:7961800-7963400	Enhancers	NH-A	brain
18	chr4:7961800-7963600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr4:7961800-7963600	Enhancers	Lung	lung
20	chr4:7961800-7963600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:7961800-7963600	Enhancers	NHLF	lung
22	chr4:7961800-7963800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:7961800-7963800	Enhancers	Fetal Heart	heart
24	chr4:7961800-7965400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:7962000-7963400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:7962000-7963400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:7962000-7963400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:7962000-7963400	Enhancers	Colonic Mucosa	Colon
29	chr4:7962000-7963400	Enhancers	Fetal Intestine Small	intestine
30	chr4:7962000-7963600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:7962000-7963600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:7962000-7964000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:7962200-7963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:7962200-7963400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:7962200-7963400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:7962200-7963400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:7962200-7963400	Enhancers	Fetal Muscle Trunk	muscle
38	chr4:7962200-7963400	Enhancers	Fetal Thymus	thymus
39	chr4:7962200-7963600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:7962200-7963600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:7962200-7963800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:7962400-7963400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:7962400-7963400	Enhancers	Aorta	Aorta
44	chr4:7962400-7963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:7962400-7963600	Enhancers	Fetal Kidney	kidney
46	chr4:7962400-7963800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:7962600-7963600	Enhancers	Primary T cells from cord blood	blood
48	chr4:7962800-7964600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:7962800-7964600	Weak transcription	Brain Substantia Nigra	brain
50	chr4:7962800-7965000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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