Variant report

Variant	rs831618
Chromosome Location	chr11:33728614-33728615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33726536..33728687-chr11:33732022..33734323,2	K562	blood:
2	chr11:33727421..33729812-chr11:33757140..33760586,3	K562	blood:
3	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:
4	chr11:33722379..33724106-chr11:33727718..33730003,2	K562	blood:

Variant related genes	Relation type
ENSG00000205177	Chromatin interaction
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs7046	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs704697	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831611	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs831617	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs831625	0.83[CHD][hapmap];0.80[TSI][hapmap]
rs831629	0.81[CEU][hapmap];0.83[CHD][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs831631	0.82[EUR][1000 genomes]
rs831633	0.87[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs831635	0.80[CEU][hapmap];0.80[CHB][hapmap];0.81[EUR][1000 genomes]
rs861256	0.81[CEU][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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv975355	chr11:33725252-33729708	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs831618	CD59	cis	Frontal Cortex	GTEx
rs831618	CD59	cis	parietal	SCAN
rs831618	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831618	CD59	cis	Artery Tibial	GTEx
rs831618	CD59	cis	cerebellum	SCAN
rs831618	CD59	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33722400-33728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:33722800-33730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:33723000-33730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:33723200-33728800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:33723200-33729600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:33723200-33730200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:33723200-33730200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:33723200-33730200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:33723200-33730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:33723200-33730600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:33723200-33730600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:33723200-33730600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:33723200-33731000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:33723200-33731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:33723200-33737400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:33723200-33744400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:33723200-33744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:33723400-33728800	Enhancers	Brain Substantia Nigra	brain
20	chr11:33723400-33729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:33723400-33730200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:33723400-33730200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:33723400-33731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:33723400-33731200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:33723400-33735000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:33723400-33741400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
31	chr11:33723600-33730200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:33723600-33730200	Weak transcription	Fetal Brain Male	brain
33	chr11:33723600-33730600	Weak transcription	Fetal Brain Female	brain
34	chr11:33723800-33730000	Weak transcription	Fetal Kidney	kidney
35	chr11:33723800-33730800	Weak transcription	Fetal Heart	heart
36	chr11:33724000-33731000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:33724200-33731000	Weak transcription	Brain Germinal Matrix	brain
38	chr11:33724400-33728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:33724400-33731200	Genic enhancers	NHEK	skin
40	chr11:33724800-33729800	Enhancers	Right Atrium	heart
41	chr11:33724800-33729800	Genic enhancers	NHDF-Ad	bronchial
42	chr11:33725600-33729600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:33725600-33731800	Genic enhancers	Left Ventricle	heart
44	chr11:33725800-33731200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:33725800-33732000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:33725800-33732200	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr11:33726000-33730600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:33726000-33731600	Genic enhancers	HMEC	breast
49	chr11:33726000-33732000	Genic enhancers	A549	lung
50	chr11:33726000-33732400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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