Variant report

Variant	rs8045432
Chromosome Location	chr16:69711883-69711884
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	chr16:69600367..69602326-chr16:69711711..69713637,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11075729	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11640319	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12918548	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12933210	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1437134	0.81[AFR][1000 genomes]
rs1469908	0.81[AFR][1000 genomes]
rs1837016	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2017448	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161630	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2917670	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2917671	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3848278	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45488899	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4633710	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55780735	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499241	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7187634	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7189878	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7191292	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7192380	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7192543	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7205551	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8049728	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055756	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8061052	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9938213	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv906822	chr16:69711533-69745145	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	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
rs8045432	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69667000-69727600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:69670800-69715400	Weak transcription	Aorta	Aorta
3	chr16:69671200-69726400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:69681600-69725800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:69681600-69725800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:69685000-69724800	Weak transcription	Fetal Heart	heart
7	chr16:69688600-69725400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:69690200-69725800	Weak transcription	Ovary	ovary
9	chr16:69690800-69712400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:69691000-69726400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:69691400-69712400	Weak transcription	Colonic Mucosa	Colon
12	chr16:69694800-69719200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:69694800-69725800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:69700400-69725400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:69701400-69717400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:69701400-69725600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:69701800-69739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:69702200-69716800	Strong transcription	HSMM	muscle
19	chr16:69703200-69713200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr16:69703400-69717600	Weak transcription	Pancreas	Pancrea
21	chr16:69704000-69712400	Weak transcription	Brain Anterior Caudate	brain
22	chr16:69704000-69725400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:69704600-69737800	Strong transcription	Liver	Liver
24	chr16:69705800-69712000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:69705800-69725800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:69705800-69725800	Weak transcription	Gastric	stomach
27	chr16:69705800-69725800	Weak transcription	Small Intestine	intestine
28	chr16:69705800-69726000	Weak transcription	Psoas Muscle	Psoas
29	chr16:69706000-69712200	Weak transcription	Thymus	Thymus
30	chr16:69706000-69712400	Weak transcription	Spleen	Spleen
31	chr16:69706000-69714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:69706000-69725000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:69706000-69726200	Weak transcription	Stomach Mucosa	stomach
34	chr16:69706200-69712600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:69706200-69725800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:69706200-69725800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:69706200-69725800	Weak transcription	Right Ventricle	heart
38	chr16:69706400-69725800	Weak transcription	Brain Angular Gyrus	brain
39	chr16:69706800-69712200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:69707200-69712400	Weak transcription	Brain Germinal Matrix	brain
41	chr16:69707600-69712400	Weak transcription	NHLF	lung
42	chr16:69708400-69712600	Strong transcription	HepG2	liver
43	chr16:69708800-69739600	Strong transcription	Placenta	Placenta
44	chr16:69709000-69712800	Strong transcription	HMEC	breast
45	chr16:69709000-69714800	Strong transcription	Osteobl	bone
46	chr16:69709000-69717400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:69709000-69739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:69709200-69713400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:69709200-69714600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:69709200-69717600	Strong transcription	GM12878-XiMat	blood

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