Variant report

Variant	rs10751384
Chromosome Location	chr10:46107308-46107309
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	chr10:46101298..46103615-chr10:46105205..46107650,2	K562	blood:
2	chr10:46106333..46108271-chr10:46111713..46114301,2	K562	blood:

Extended variants
information (count: 20 )
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];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs10751385	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10751386	0.92[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap]
rs10751387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793617	0.86[ASN][1000 genomes]
rs10793622	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10900226	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs11239562	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4949004	0.87[ASN][1000 genomes]
rs7069223	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7087633	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs7896175	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs7920317	0.85[CHB][hapmap]

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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10751384	AGAP4	cis	Whole Blood	GTEx
rs10751384	OR13A1	cis	cerebellum	SCAN
rs10751384	ANUBL1	cis	cerebellum	SCAN
rs10751384	AGAP4	cis	Artery Tibial	GTEx
rs10751384	AGAP4	cis	Muscle Skeletal	GTEx

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

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	chr10:46096400-46121600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:46096400-46121800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:46096600-46107400	Weak transcription	Gastric	stomach
6	chr10:46097800-46121600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:46097800-46121800	Weak transcription	Psoas Muscle	Psoas
8	chr10:46098000-46107800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:46098200-46153400	Weak transcription	HSMM	muscle
10	chr10:46099200-46122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:46099400-46119400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:46100200-46142600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:46100400-46107600	Weak transcription	Fetal Lung	lung
14	chr10:46101400-46107400	Weak transcription	Aorta	Aorta
15	chr10:46101400-46112600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:46101600-46121800	Weak transcription	Brain Substantia Nigra	brain
17	chr10:46101800-46107400	Weak transcription	Brain Angular Gyrus	brain
18	chr10:46102200-46107600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr10:46102600-46107800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:46102600-46119400	Weak transcription	GM12878-XiMat	blood
21	chr10:46102800-46113200	Weak transcription	Placenta	Placenta
22	chr10:46103000-46121800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:46103000-46121800	Weak transcription	Spleen	Spleen
24	chr10:46103400-46107400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:46103400-46107600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:46103400-46130600	Weak transcription	Fetal Brain Male	brain
27	chr10:46103400-46142200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:46103600-46113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:46103600-46121800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr10:46103600-46132600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:46103800-46107600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:46103800-46110000	Weak transcription	Stomach Mucosa	stomach
33	chr10:46103800-46121400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr10:46103800-46134600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:46104200-46107400	Weak transcription	Esophagus	oesophagus
36	chr10:46104400-46151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:46104600-46107800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:46104800-46108200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr10:46104800-46109200	Strong transcription	Fetal Thymus	thymus
40	chr10:46104800-46121400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr10:46105000-46108400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:46105000-46109200	Strong transcription	Primary T cells from cord blood	blood
43	chr10:46105000-46109200	Strong transcription	Liver	Liver
44	chr10:46105000-46109200	Strong transcription	Fetal Intestine Large	intestine
45	chr10:46105000-46109200	Strong transcription	Fetal Muscle Leg	muscle
46	chr10:46105000-46109200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr10:46105000-46121800	Weak transcription	Pancreas	Pancrea
48	chr10:46105200-46108400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:46105200-46108400	Strong transcription	Left Ventricle	heart
50	chr10:46105200-46108400	Strong transcription	Ovary	ovary

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