Variant report

Variant	rs12806824
Chromosome Location	chr11:33790780-33790781
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	chr11:33786160..33788052-chr11:33788330..33790900,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10768025	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836107	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836110	0.87[CEU][hapmap]
rs1096561	0.96[ASN][1000 genomes]
rs11032367	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032372	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11032373	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1112841	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12224154	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1522084	0.86[CEU][hapmap]
rs1522085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16924804	0.89[YRI][hapmap]
rs1718067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252927	0.93[ASN][1000 genomes]
rs2272064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2686245	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2746601	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2746602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817442	0.85[YRI][hapmap]
rs4348870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4756002	0.86[CEU][hapmap]
rs6484665	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116243	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7938603	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831629	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs831633	0.81[CHB][hapmap]
rs831635	0.80[CEU][hapmap]
rs861256	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs884710	0.86[CEU][hapmap]
rs953142	0.86[CEU][hapmap]
rs999479	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12806824	CD59	cis	Esophagus Muscularis	GTEx
rs12806824	CD59	cis	Nerve Tibial	GTEx
rs12806824	CD59	cis	Artery Tibial	GTEx
rs12806824	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
4	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:33764400-33791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:33764400-33792200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:33764400-33792400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:33764400-33792400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:33767400-33791400	Strong transcription	Placenta	Placenta
12	chr11:33767600-33792400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:33767800-33792200	Strong transcription	Adipose Nuclei	Adipose
14	chr11:33767800-33792400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:33770200-33791200	Strong transcription	Liver	Liver
17	chr11:33770800-33791600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:33776800-33792200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:33777000-33792200	Strong transcription	Fetal Lung	lung
20	chr11:33777200-33792400	Strong transcription	Primary B cells from cord blood	blood
21	chr11:33778200-33792200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:33778800-33794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:33779600-33795000	Weak transcription	Colonic Mucosa	Colon
24	chr11:33780000-33792200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:33782200-33792000	Weak transcription	Aorta	Aorta
26	chr11:33782200-33793400	Weak transcription	Right Ventricle	heart
27	chr11:33783800-33792000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:33784600-33791400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:33784600-33792000	Strong transcription	Fetal Intestine Large	intestine
30	chr11:33784600-33792200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:33784600-33792200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:33784600-33792200	Strong transcription	Dnd41	blood
33	chr11:33784800-33791400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:33784800-33792200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:33785000-33792400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:33785200-33792400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:33785200-33792400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:33785400-33792400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:33785600-33791200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:33785800-33792000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr11:33786000-33791600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:33786000-33791800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:33786200-33791600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:33786200-33792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:33786200-33793200	Weak transcription	K562	blood
46	chr11:33786200-33793400	Weak transcription	A549	lung
47	chr11:33786200-33793600	Weak transcription	Fetal Heart	heart
48	chr11:33786200-33793600	Weak transcription	Small Intestine	intestine
49	chr11:33786400-33792200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:33786600-33791400	Strong transcription	Rectal Smooth Muscle	rectum

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