Variant report

Variant	rs2186937
Chromosome Location	chr11:68256847-68256848
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	chr11:68256624..68259557-chr11:68268136..68270312,2	K562	blood:
2	chr11:68256411..68258271-chr11:68261710..68264007,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10896338	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs10896347	0.86[ASW][hapmap]
rs11228256	0.81[MEX][hapmap]
rs11228258	0.81[MEX][hapmap]
rs11228269	0.81[MEX][hapmap]
rs11228292	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs11228294	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11228295	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12271290	0.81[MEX][hapmap]
rs12283755	0.86[ASW][hapmap]
rs12284933	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs12286536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12291008	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12293615	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17149179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236708	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs2375639	0.88[AMR][1000 genomes]
rs2375640	0.86[AMR][1000 genomes]
rs2510380	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2510382	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513286	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28484774	0.92[AFR][1000 genomes]
rs28551086	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35989399	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736228	1.00[MEX][hapmap]
rs3740629	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs3740631	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs3758643	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs3867143	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4316515	0.84[ASW][hapmap];0.81[MEX][hapmap]
rs4544002	0.82[ASN][1000 genomes]
rs4988291	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs55761963	0.88[ASN][1000 genomes]
rs55975204	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56154705	0.84[AMR][1000 genomes]
rs56312530	0.88[AMR][1000 genomes]
rs57502260	0.86[AMR][1000 genomes]
rs57813595	0.88[ASN][1000 genomes]
rs60538784	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61705449	0.88[ASN][1000 genomes]
rs67446678	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7102898	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs7104806	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7105218	0.86[AMR][1000 genomes]
rs7106259	0.81[MEX][hapmap]
rs7109294	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs7118897	0.81[MEX][hapmap]
rs7123564	0.86[ASW][hapmap];0.81[MEX][hapmap]
rs7124078	0.81[MEX][hapmap]
rs7128942	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7129320	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72936524	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72936570	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72936599	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925275	0.81[MEX][hapmap]
rs7935347	0.90[AMR][1000 genomes]
rs7944870	0.81[MEX][hapmap]
rs948315	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2186937	NDUFS8	cis	parietal	SCAN
rs2186937	CDC42BPG	cis	parietal	SCAN
rs2186937	SLC29A2	cis	cerebellum	SCAN
rs2186937	GAL	cis	parietal	SCAN
rs2186937	UNC93B1	cis	cerebellum	SCAN
rs2186937	CPT1A	Cis_1M	lymphoblastoid	RTeQTL
rs2186937	CARNS1	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238200-68264800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:68240000-68269800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:68240400-68262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:68240400-68262200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:68240800-68262200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:68241200-68259400	Weak transcription	Thymus	Thymus
8	chr11:68241200-68264800	Weak transcription	K562	blood
9	chr11:68242000-68266000	Weak transcription	Hela-S3	cervix
10	chr11:68245000-68264800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:68246800-68266600	Weak transcription	Fetal Thymus	thymus
12	chr11:68247000-68270800	Weak transcription	Dnd41	blood
13	chr11:68247400-68257200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:68247400-68264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:68248800-68266000	Weak transcription	HSMM	muscle
16	chr11:68249000-68258200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:68249000-68265400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:68249000-68270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:68249200-68258000	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:68249200-68262400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:68249400-68258600	Weak transcription	Small Intestine	intestine
22	chr11:68249400-68263400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:68249400-68270800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:68249600-68257600	Weak transcription	Stomach Mucosa	stomach
25	chr11:68249600-68259800	Weak transcription	Right Ventricle	heart
26	chr11:68249600-68262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:68249600-68262800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:68249600-68265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:68249600-68265800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:68251000-68262400	Weak transcription	HepG2	liver
31	chr11:68252000-68262600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:68252600-68260800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:68252800-68258400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:68252800-68260600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:68252800-68260800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:68252800-68261000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:68253000-68261200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:68253400-68260200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:68253400-68263200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:68253400-68265600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:68253800-68259000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:68254000-68260800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:68254000-68260800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:68254000-68264800	Weak transcription	Fetal Intestine Small	intestine
45	chr11:68254000-68266000	Weak transcription	Fetal Stomach	stomach
46	chr11:68254200-68259000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr11:68254400-68265800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:68254600-68257200	Weak transcription	Liver	Liver
49	chr11:68254800-68263000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:68255400-68260600	Enhancers	Skeletal Muscle Female	skeletal muscle

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