Variant report

Variant	rs10838612
Chromosome Location	chr11:46701728-46701729
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46699401..46701955-chr11:46706873..46709841,3	K562	blood:
2	chr11:46684772..46686521-chr11:46700565..46703053,2	K562	blood:
3	chr11:46637903..46639684-chr11:46699527..46702223,2	MCF-7	breast:
4	chr11:46697367..46699495-chr11:46700112..46702121,3	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1007738	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10734548	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10769211	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs11038977	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11039002	0.82[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap]
rs11039014	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs11602537	0.82[ASN][1000 genomes]
rs1551744	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1799867	0.83[ASN][1000 genomes]
rs2070850	0.86[CHB][hapmap]
rs2070851	0.83[ASN][1000 genomes]
rs2306028	0.82[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs2306033	0.82[CHB][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs3136441	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3136447	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs3136449	0.84[ASN][1000 genomes]
rs3136457	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs3136460	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3136499	0.83[ASN][1000 genomes]
rs4076557	0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4294527	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4491174	0.94[ASN][1000 genomes]
rs4603265	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752927	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752931	0.81[ASN][1000 genomes]
rs4752932	0.82[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap]
rs4752933	0.82[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs4752946	0.82[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs4752947	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs57704144	0.82[ASN][1000 genomes]
rs58561056	0.86[ASN][1000 genomes]
rs58922799	0.94[ASN][1000 genomes]
rs5896	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs61337452	0.86[ASN][1000 genomes]
rs7101374	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7107778	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7929294	0.91[JPT][hapmap]
rs964551	0.82[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10838612	ACP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
4	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
5	chr11:46697200-46705200	Strong transcription	Fetal Brain Female	brain
6	chr11:46697200-46705800	Strong transcription	Thymus	Thymus
7	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46697400-46703800	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr11:46697800-46704200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:46697800-46704800	Weak transcription	Fetal Heart	heart
12	chr11:46697800-46706200	Strong transcription	Rectal Smooth Muscle	rectum
13	chr11:46697800-46709200	Strong transcription	Fetal Stomach	stomach
14	chr11:46698000-46704000	Strong transcription	NHLF	lung
15	chr11:46698000-46708800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:46698000-46708800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:46698200-46703800	Strong transcription	Aorta	Aorta
19	chr11:46698200-46704400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:46698200-46705600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:46698200-46706000	Strong transcription	Fetal Lung	lung
22	chr11:46698200-46706200	Strong transcription	Dnd41	blood
23	chr11:46698200-46708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:46698400-46703200	Strong transcription	HSMMtube	muscle
25	chr11:46698400-46703600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:46698400-46703800	Strong transcription	Colon Smooth Muscle	Colon
27	chr11:46698400-46704200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:46698400-46709000	Weak transcription	Fetal Kidney	kidney
29	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:46698600-46703000	Strong transcription	NHDF-Ad	bronchial
31	chr11:46698600-46703600	Strong transcription	Ovary	ovary
32	chr11:46698600-46704400	Strong transcription	Small Intestine	intestine
33	chr11:46698600-46704600	Strong transcription	HepG2	liver
34	chr11:46698600-46704800	Strong transcription	HSMM	muscle
35	chr11:46698600-46705000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr11:46698600-46705800	Strong transcription	Gastric	stomach
37	chr11:46698600-46706600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:46698800-46703800	Strong transcription	Brain Anterior Caudate	brain
39	chr11:46698800-46704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:46698800-46705000	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:46698800-46706200	Strong transcription	Fetal Thymus	thymus
42	chr11:46699000-46702600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:46699000-46704200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr11:46699000-46704800	Strong transcription	Brain Hippocampus Middle	brain
45	chr11:46699000-46704800	Strong transcription	Brain Substantia Nigra	brain
46	chr11:46699000-46704800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:46699000-46705000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:46699000-46705000	Weak transcription	Right Atrium	heart
49	chr11:46699000-46706000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:46699000-46706000	Strong transcription	Lung	lung

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