Variant report

Variant	rs2186879
Chromosome Location	chr11:105954018-105954019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105944340..105947220-chr11:105952969..105954869,2	K562	blood:
2	chr11:105952957..105954833-chr11:105963131..105964990,2	K562	blood:

Variant related genes	Relation type
ENSG00000149313	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1002629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502066	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10502067	0.82[ASN][1000 genomes]
rs10895934	0.82[ASN][1000 genomes]
rs10895937	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11226959	0.82[ASN][1000 genomes]
rs11226961	0.82[ASN][1000 genomes]
rs11226970	0.82[ASN][1000 genomes]
rs11226971	0.82[ASN][1000 genomes]
rs11226972	0.82[ASN][1000 genomes]
rs11226973	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11226974	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11226975	1.00[JPT][hapmap]
rs11226976	0.82[ASN][1000 genomes]
rs11226977	0.82[ASN][1000 genomes]
rs11226978	0.82[ASN][1000 genomes]
rs11226979	0.82[ASN][1000 genomes]
rs11226981	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11226990	0.82[ASN][1000 genomes]
rs1154607	0.82[ASN][1000 genomes]
rs11819920	0.82[ASN][1000 genomes]
rs11819968	0.82[ASN][1000 genomes]
rs11821428	0.82[ASN][1000 genomes]
rs11821642	0.82[ASN][1000 genomes]
rs11823365	1.00[ASN][1000 genomes]
rs11823838	0.82[ASN][1000 genomes]
rs11823993	0.82[ASN][1000 genomes]
rs11824559	1.00[ASN][1000 genomes]
rs11824707	0.82[ASN][1000 genomes]
rs11824969	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11825111	0.82[ASN][1000 genomes]
rs11825978	0.82[ASN][1000 genomes]
rs11826475	0.82[ASN][1000 genomes]
rs11826477	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11826484	0.82[ASN][1000 genomes]
rs11826487	0.82[ASN][1000 genomes]
rs11826794	0.82[ASN][1000 genomes]
rs11826859	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11827132	0.82[ASN][1000 genomes]
rs11827762	0.82[ASN][1000 genomes]
rs11828217	0.82[ASN][1000 genomes]
rs11828435	0.82[ASN][1000 genomes]
rs12271058	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12271522	1.00[ASN][1000 genomes]
rs12276276	0.82[ASN][1000 genomes]
rs12277443	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12277629	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12278043	0.82[ASN][1000 genomes]
rs12283457	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12283643	0.82[ASN][1000 genomes]
rs12283939	0.82[ASN][1000 genomes]
rs12284680	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12286785	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288968	0.82[ASN][1000 genomes]
rs12289014	0.82[ASN][1000 genomes]
rs12289033	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12289035	0.82[ASN][1000 genomes]
rs12291850	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12294993	0.82[ASN][1000 genomes]
rs17485615	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939809	0.90[EUR][1000 genomes]
rs2155339	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889602	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs55865873	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56025631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56033334	0.82[ASN][1000 genomes]
rs56115097	0.82[ASN][1000 genomes]
rs56167003	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56412913	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61361634	0.82[ASN][1000 genomes]
rs61398602	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102241	0.82[ASN][1000 genomes]
rs7106458	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7106459	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7106786	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7106919	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7109903	0.82[ASN][1000 genomes]
rs7111720	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7115990	0.82[ASN][1000 genomes]
rs7119670	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7120289	0.82[ASN][1000 genomes]
rs7120421	0.82[ASN][1000 genomes]
rs7120578	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7121763	0.82[ASN][1000 genomes]
rs7126319	0.82[ASN][1000 genomes]
rs7126900	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73537610	0.82[ASN][1000 genomes]
rs73537615	0.82[ASN][1000 genomes]
rs7926902	1.00[ASN][1000 genomes]
rs7935812	1.00[JPT][hapmap];1.00[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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2186879	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:105949200-105956800	Weak transcription	Aorta	Aorta
3	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:105949200-105969800	Weak transcription	Lung	lung
7	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
8	chr11:105949800-105956800	Weak transcription	Pancreas	Pancrea
9	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
11	chr11:105950200-105956400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:105950400-105954200	Strong transcription	NH-A	brain
13	chr11:105950400-105954600	Strong transcription	HSMM	muscle
14	chr11:105950400-105955000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:105950400-105955000	Strong transcription	NHEK	skin
16	chr11:105950400-105955200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:105950400-105955200	Weak transcription	Fetal Stomach	stomach
18	chr11:105950400-105955600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:105950400-105957200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:105950400-105958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:105950600-105954400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:105950600-105955000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:105950600-105957800	Weak transcription	Stomach Mucosa	stomach
25	chr11:105950600-105958000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:105950600-105969400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:105950800-105954400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:105950800-105954400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:105950800-105955000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:105950800-105956200	Strong transcription	Fetal Thymus	thymus
31	chr11:105951000-105954600	Strong transcription	HUVEC	blood vessel
32	chr11:105951000-105955000	Strong transcription	A549	lung
33	chr11:105951200-105957800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:105951200-105962200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:105951400-105954400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:105952000-105954400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:105952000-105957000	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:105952000-105969400	Weak transcription	Colonic Mucosa	Colon
39	chr11:105952200-105954400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:105952200-105955200	Weak transcription	Brain Germinal Matrix	brain
41	chr11:105952200-105956800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:105952200-105956800	Weak transcription	NHLF	lung
43	chr11:105952200-105957000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:105952200-105957400	Weak transcription	Psoas Muscle	Psoas
45	chr11:105952400-105954200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:105952400-105956800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:105952400-105957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:105952400-105957600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:105952400-105957600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:105952400-105958400	Weak transcription	Muscle Satellite Cultured Cells	--

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