Variant report

Variant	rs7116243
Chromosome Location	chr11:33781889-33781890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33777788..33782173-chr11:33783108..33786558,6	K562	blood:
2	chr11:33780255..33782060-chr11:33788387..33790193,2	K562	blood:
3	chr11:33770157..33771745-chr11:33780759..33782708,2	K562	blood:

Variant related genes	Relation type
ENSG00000110429	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10768025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836107	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096561	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11032367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032372	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11032373	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112841	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12224154	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12806824	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1522085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718067	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252927	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2272064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686245	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746601	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746602	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348870	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938603	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831595	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs861256	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]

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
rs7116243	CD59	cis	Artery Tibial	GTEx
rs7116243	CD59	cis	Nerve Tibial	GTEx
rs7116243	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs7116243	CD59	cis	Esophagus Muscularis	GTEx

Chromatin state (count:120 , 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	chr11:33760400-33785200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
5	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:33764400-33791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:33764400-33792200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:33764400-33792400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:33764400-33792400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:33764600-33785200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:33765200-33785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:33766600-33787600	Weak transcription	Stomach Mucosa	stomach
15	chr11:33767400-33791400	Strong transcription	Placenta	Placenta
16	chr11:33767600-33785800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:33767600-33792400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:33767800-33784000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:33767800-33784600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:33767800-33785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:33767800-33792200	Strong transcription	Adipose Nuclei	Adipose
22	chr11:33767800-33792400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:33768000-33785800	Weak transcription	Small Intestine	intestine
24	chr11:33769000-33782200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:33769600-33783800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:33770200-33791200	Strong transcription	Liver	Liver
28	chr11:33770400-33789200	Weak transcription	NHLF	lung
29	chr11:33770800-33791600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:33772200-33785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:33772600-33785400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:33774400-33782400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:33774400-33782600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:33774600-33782600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:33775000-33782200	Strong transcription	Dnd41	blood
36	chr11:33775200-33786200	Weak transcription	Esophagus	oesophagus
37	chr11:33775400-33785200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:33775400-33785800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:33775800-33785800	Weak transcription	Fetal Heart	heart
40	chr11:33776400-33782000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:33776400-33782200	Strong transcription	Fetal Intestine Large	intestine
42	chr11:33776400-33782200	Strong transcription	Thymus	Thymus
43	chr11:33776400-33782400	Strong transcription	Fetal Stomach	stomach
44	chr11:33776600-33782200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:33776800-33782000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:33776800-33792200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:33777000-33782200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:33777000-33782200	Strong transcription	Left Ventricle	heart
49	chr11:33777000-33782200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:33777000-33792200	Strong transcription	Fetal Lung	lung

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