Variant report

Variant	rs11187580
Chromosome Location	chr10:95429007-95429008
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	chr10:95419996..95421608-chr10:95427554..95429484,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10444062	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882302	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882303	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187583	0.81[CEU][hapmap];0.84[GIH][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.84[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187584	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187596	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11187599	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187620	0.86[ASN][1000 genomes]
rs1998840	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs45468996	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094280	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047261	chr10:95384527-95449653	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv540746	chr10:95384527-95449653	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1050705	chr10:95384527-95469255	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv540747	chr10:95384527-95469255	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv3346948	chr10:95421957-95532625	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11187580	FRA10AC1	cis	cerebellum	SCAN
rs11187580	FRA10AC1	cis	Artery Tibial	GTEx
rs11187580	FRA10AC1	cis	parietal	SCAN
rs11187580	NUDT9P1	cis	parietal	SCAN
rs11187580	CYP2C8	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95412200-95429800	Weak transcription	Brain Substantia Nigra	brain
2	chr10:95413200-95433600	Weak transcription	HMEC	breast
3	chr10:95416200-95432600	Weak transcription	A549	lung
4	chr10:95416600-95437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:95416600-95453800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:95417400-95438200	Weak transcription	Thymus	Thymus
7	chr10:95417800-95461400	Weak transcription	Esophagus	oesophagus
8	chr10:95418200-95432600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:95418200-95432600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:95418200-95437800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:95418400-95437000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:95418400-95461400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:95418600-95432600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:95418600-95460800	Weak transcription	Aorta	Aorta
15	chr10:95418600-95462000	Weak transcription	Spleen	Spleen
16	chr10:95418800-95434000	Weak transcription	Psoas Muscle	Psoas
17	chr10:95418800-95437200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:95418800-95451600	Weak transcription	Hela-S3	cervix
19	chr10:95419000-95432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:95419000-95437800	Weak transcription	Gastric	stomach
21	chr10:95419400-95430600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr10:95419400-95430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:95419400-95433200	Weak transcription	GM12878-XiMat	blood
24	chr10:95419400-95445400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr10:95420400-95458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:95421000-95434200	Weak transcription	Fetal Stomach	stomach
27	chr10:95421200-95434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:95421400-95439000	Weak transcription	Fetal Heart	heart
29	chr10:95421600-95453600	Weak transcription	Pancreas	Pancrea
30	chr10:95422200-95451000	Weak transcription	Right Ventricle	heart
31	chr10:95422600-95440400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:95422800-95430600	Strong transcription	HSMM	muscle
33	chr10:95422800-95437200	Weak transcription	Fetal Brain Male	brain
34	chr10:95422800-95441800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr10:95423200-95431200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:95423200-95438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:95423400-95437800	Weak transcription	Lung	lung
38	chr10:95423600-95430600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:95423600-95433600	Weak transcription	NHLF	lung
40	chr10:95424600-95456600	Weak transcription	Fetal Intestine Small	intestine
41	chr10:95424800-95433000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr10:95424800-95441200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:95424800-95453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr10:95425000-95430600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr10:95425000-95431200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:95425000-95431400	Strong transcription	Dnd41	blood
47	chr10:95425000-95436400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:95425000-95438000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:95425000-95441600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:95425000-95446000	Strong transcription	Primary monocytes fromperipheralblood	blood

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