Variant report

Variant	rs11736215
Chromosome Location	chr4:7762502-7762503
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11721583	0.88[CHB][hapmap]
rs11721609	0.86[CHB][hapmap]
rs11724632	0.86[CHB][hapmap]
rs11728778	0.88[CHB][hapmap]
rs11729332	0.88[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11734524	0.91[ASN][1000 genomes]
rs11737447	0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs13113113	0.88[CHB][hapmap]
rs13117918	0.88[CHB][hapmap]
rs13125295	0.86[CHB][hapmap]
rs13128495	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs17382379	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs17382393	0.86[ASN][1000 genomes]
rs17466895	0.86[ASN][1000 genomes]
rs56352084	0.89[ASN][1000 genomes]
rs62291980	0.89[ASN][1000 genomes]
rs885261	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	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
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv878577	chr4:7757650-7771201	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11736215	AFAP1	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
2	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
4	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:7755400-7763200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:7756000-7766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:7756600-7764400	Weak transcription	Esophagus	oesophagus
12	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
14	chr4:7757600-7764400	Strong transcription	NH-A	brain
15	chr4:7757600-7765400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:7757600-7765400	Strong transcription	Osteobl	bone
17	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:7757800-7768200	Weak transcription	Fetal Heart	heart
20	chr4:7757800-7768600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
22	chr4:7758000-7762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:7758200-7764600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
27	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:7758800-7763200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:7758800-7763600	Weak transcription	NHDF-Ad	bronchial
30	chr4:7759200-7763600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:7759200-7763600	Weak transcription	GM12878-XiMat	blood
32	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
33	chr4:7759800-7762600	Weak transcription	Fetal Lung	lung
34	chr4:7759800-7762800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
37	chr4:7760000-7762600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:7760000-7763600	Strong transcription	Placenta	Placenta
39	chr4:7760000-7764400	Weak transcription	Ovary	ovary
40	chr4:7760000-7770000	Strong transcription	Fetal Stomach	stomach
41	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
42	chr4:7760000-7783200	Strong transcription	HSMM	muscle
43	chr4:7760200-7762800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:7760200-7763600	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:7760200-7768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:7760400-7763000	Weak transcription	HepG2	liver
49	chr4:7760400-7763400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:7760400-7764400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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