Variant report

Variant	rs10751387
Chromosome Location	chr10:46141837-46141838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:46135491..46137232-chr10:46139389..46142363,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1073525	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10751384	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751385	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751386	0.92[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.84[TSI][hapmap]
rs10793617	0.81[ASN][1000 genomes]
rs10793622	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10900226	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs11239562	0.89[ASN][1000 genomes]
rs4949004	0.82[ASN][1000 genomes]
rs7069223	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7087633	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs7896175	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs7920317	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking 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 target site	12 gene(s)	inside rSNPs	diseases
5	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1050880	chr10:46091441-46160597	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv540588	chr10:46091441-46160597	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv895113	chr10:46134013-46167847	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv540589	chr10:46136345-46153760	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10751387	AGAP4	cis	Muscle Skeletal	GTEx
rs10751387	AGAP4	cis	Artery Tibial	GTEx
rs10751387	AGAP4	cis	Whole Blood	GTEx
rs10751387	OR13A1	cis	cerebellum	SCAN
rs10751387	ANUBL1	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46090600-46167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:46096200-46142000	Weak transcription	Brain Anterior Caudate	brain
3	chr10:46098200-46153400	Weak transcription	HSMM	muscle
4	chr10:46100200-46142600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr10:46103400-46142200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr10:46104400-46151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:46106400-46142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:46106800-46142000	Weak transcription	Fetal Kidney	kidney
9	chr10:46106800-46146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:46107800-46142000	Weak transcription	Esophagus	oesophagus
11	chr10:46108000-46155800	Weak transcription	Brain Angular Gyrus	brain
12	chr10:46108200-46142000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:46108400-46142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:46108400-46149400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:46108400-46167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:46108600-46149200	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:46108600-46155400	Weak transcription	Fetal Intestine Small	intestine
18	chr10:46108800-46142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:46110200-46153800	Weak transcription	NH-A	brain
20	chr10:46110800-46156800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:46112200-46152400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:46118800-46142400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:46119800-46148200	Weak transcription	Colonic Mucosa	Colon
24	chr10:46120000-46157800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:46120200-46148400	Weak transcription	Small Intestine	intestine
26	chr10:46122200-46142000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:46122200-46154600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:46122200-46157200	Weak transcription	Gastric	stomach
29	chr10:46122400-46142000	Weak transcription	Fetal Lung	lung
30	chr10:46122400-46142200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:46122400-46149000	Weak transcription	Brain Substantia Nigra	brain
32	chr10:46122400-46156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:46122600-46142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:46122600-46142000	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:46122600-46142000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:46122600-46142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:46122600-46142400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:46122800-46142200	Weak transcription	Lung	lung
39	chr10:46123200-46142200	Weak transcription	Aorta	Aorta
40	chr10:46123400-46142000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:46123600-46142000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:46123600-46142200	Weak transcription	Thymus	Thymus
43	chr10:46124400-46142200	Weak transcription	Fetal Heart	heart
44	chr10:46125200-46142200	Weak transcription	Left Ventricle	heart
45	chr10:46130800-46147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:46131000-46143200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:46131200-46142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:46133800-46142200	Weak transcription	Fetal Stomach	stomach
49	chr10:46133800-46157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:46134000-46142000	Weak transcription	Pancreas	Pancrea

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