Variant report

Variant	rs10501815
Chromosome Location	chr11:94212446-94212447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94202180..94204828-chr11:94212256..94213888,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10765682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831219	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10831223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10831224	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10831228	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10831229	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10831232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831234	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10831235	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020768	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11020773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11020778	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020779	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020780	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11020805	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020806	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020807	0.91[ASN][1000 genomes]
rs11020808	1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap]
rs11020827	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs11517521	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11528970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11605546	1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs11825497	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12222194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12222920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12224897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360870	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12365123	0.95[EUR][1000 genomes]
rs13447710	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13447717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447719	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2005496	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740868	0.88[CHB][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3819119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117042	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119285	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126861	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947058	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv820080	chr11:94211879-94212802	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10501815	SCARNA9	cis	cerebellum	SCAN
rs10501815	ANKRD49	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
4	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
7	chr11:94166600-94216400	Weak transcription	Gastric	stomach
8	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
9	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
12	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:94180800-94215800	Weak transcription	Lung	lung
16	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
17	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:94183200-94222200	Weak transcription	HMEC	breast
19	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:94183600-94225800	Weak transcription	NHLF	lung
21	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
22	chr11:94193800-94214400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:94194000-94217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:94194400-94213800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:94194600-94216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
27	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
29	chr11:94195200-94215800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:94197200-94222600	Strong transcription	Dnd41	blood
31	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
33	chr11:94197800-94216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:94198800-94223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:94199600-94213400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:94199800-94222400	Weak transcription	NHEK	skin
38	chr11:94200200-94213800	Weak transcription	Spleen	Spleen
39	chr11:94200400-94213600	Weak transcription	Brain Germinal Matrix	brain
40	chr11:94200600-94213600	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:94203200-94216000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:94203400-94215600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:94204200-94215200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:94204600-94213600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:94205800-94224000	Strong transcription	Liver	Liver
48	chr11:94206400-94217600	Weak transcription	NH-A	brain
49	chr11:94206600-94216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:94206600-94217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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