Variant report

Variant	rs11641521
Chromosome Location	chr16:69823081-69823082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10048108	0.82[EUR][1000 genomes]
rs10163235	0.82[EUR][1000 genomes]
rs10454066	0.80[EUR][1000 genomes]
rs11075733	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11075734	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1139178	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11643926	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11644838	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11644914	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12446201	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12447883	0.80[EUR][1000 genomes]
rs12595869	0.80[EUR][1000 genomes]
rs12596679	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12925371	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1437135	0.83[EUR][1000 genomes]
rs16959035	0.81[EUR][1000 genomes]
rs1800566	0.82[EUR][1000 genomes]
rs1865965	0.80[EUR][1000 genomes]
rs2196574	0.83[EUR][1000 genomes]
rs2361839	0.81[EUR][1000 genomes]
rs3743673	0.82[EUR][1000 genomes]
rs3811349	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4078387	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4341733	0.83[AFR][1000 genomes]
rs4464069	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4497676	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580150	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985518	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985523	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55701476	0.85[EUR][1000 genomes]
rs55863174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55992518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282083	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57488237	0.81[EUR][1000 genomes]
rs57518557	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57565297	0.80[EUR][1000 genomes]
rs59295369	0.82[EUR][1000 genomes]
rs60231938	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61426398	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6499253	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499255	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499257	0.82[AFR][1000 genomes]
rs689455	0.83[EUR][1000 genomes]
rs7186002	0.83[EUR][1000 genomes]
rs7189424	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73579458	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73579497	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045682	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8059345	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9921045	0.82[EUR][1000 genomes]
rs9933526	0.82[EUR][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11641521	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
3	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
4	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
7	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:69807200-69830200	Weak transcription	Osteobl	bone
9	chr16:69807200-69832600	Weak transcription	NHLF	lung
10	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
11	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
13	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
14	chr16:69808000-69833200	Weak transcription	HSMM	muscle
15	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
16	chr16:69810200-69831000	Weak transcription	NHEK	skin
17	chr16:69810200-69833400	Weak transcription	Dnd41	blood
18	chr16:69810400-69830200	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:69810400-69830200	Weak transcription	A549	lung
20	chr16:69812200-69829400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr16:69813800-69827000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr16:69814600-69827600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr16:69815200-69830000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:69815200-69830200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:69815200-69833400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:69815400-69830200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:69816200-69829600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:69817800-69854600	Weak transcription	HMEC	breast
29	chr16:69818600-69830200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:69819800-69823800	Strong transcription	Placenta	Placenta
31	chr16:69820200-69845000	Weak transcription	K562	blood
32	chr16:69820600-69823800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr16:69820600-69824000	Strong transcription	Thymus	Thymus
34	chr16:69820600-69824400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr16:69820600-69824600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:69820600-69827600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:69820600-69827800	Strong transcription	Primary T cells from cord blood	blood
38	chr16:69820600-69830000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:69820800-69823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:69820800-69823600	Strong transcription	Brain Germinal Matrix	brain
41	chr16:69820800-69823800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:69820800-69823800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:69820800-69823800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:69820800-69823800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr16:69820800-69824000	Strong transcription	Brain Anterior Caudate	brain
46	chr16:69820800-69824000	Strong transcription	Left Ventricle	heart
47	chr16:69820800-69824200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr16:69820800-69824200	Strong transcription	Spleen	Spleen
49	chr16:69820800-69824400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:69820800-69824400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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