Variant report

Variant	rs11075733
Chromosome Location	chr16:69773435-69773436
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69755773..69764501-chr16:69767489..69780977,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262136	Chromatin interaction
ENSG00000181019	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10048108	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10163235	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10454066	0.85[EUR][1000 genomes]
rs10500551	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11075734	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1139178	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11639947	0.80[EUR][1000 genomes]
rs11641233	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11641521	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11643926	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11644838	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11644914	0.88[EUR][1000 genomes]
rs11646884	0.82[EUR][1000 genomes]
rs12232410	0.84[EUR][1000 genomes]
rs12446201	0.86[EUR][1000 genomes]
rs12447883	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12595869	0.84[EUR][1000 genomes]
rs12596679	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12925371	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1437135	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1437136	0.80[EUR][1000 genomes]
rs16959035	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1800566	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1865965	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2118220	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2196574	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2217950	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2361838	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2361839	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3169315	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3743673	0.86[EUR][1000 genomes]
rs3811349	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4078387	0.89[EUR][1000 genomes]
rs4464069	0.89[EUR][1000 genomes]
rs4497676	0.86[EUR][1000 genomes]
rs4580150	0.89[EUR][1000 genomes]
rs4985518	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985523	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55701476	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55863174	0.88[EUR][1000 genomes]
rs55992518	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56282083	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56316408	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57488237	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57518557	0.88[EUR][1000 genomes]
rs57565297	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59295369	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60010276	0.81[AMR][1000 genomes]
rs60231938	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60472033	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61310815	0.81[AMR][1000 genomes]
rs61426398	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499253	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499255	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs689455	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7186002	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7189424	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7198242	0.82[EUR][1000 genomes]
rs73579458	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73579497	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs74029403	0.84[EUR][1000 genomes]
rs8045142	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8045682	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8046314	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8047885	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8052086	0.82[EUR][1000 genomes]
rs8053080	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8054096	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8059345	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8060588	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9788837	0.82[EUR][1000 genomes]
rs9921045	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9933526	0.81[AMR][1000 genomes];0.86[EUR][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	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
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11075733	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761200-69775400	Weak transcription	Fetal Brain Male	brain
2	chr16:69761200-69776200	Weak transcription	Ovary	ovary
3	chr16:69761400-69773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:69761400-69773800	Weak transcription	Placenta	Placenta
5	chr16:69761400-69774200	Weak transcription	Esophagus	oesophagus
6	chr16:69761400-69774200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:69761600-69773800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:69761600-69773800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr16:69761600-69773800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:69761600-69774000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr16:69761600-69774000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:69761600-69774000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr16:69761600-69774200	Weak transcription	Colon Smooth Muscle	Colon
14	chr16:69761600-69774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:69761800-69773800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:69761800-69773800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr16:69761800-69773800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:69761800-69774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:69761800-69774200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:69761800-69774200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:69761800-69774200	Weak transcription	Brain Substantia Nigra	brain
22	chr16:69761800-69774200	Weak transcription	NHEK	skin
23	chr16:69761800-69774200	Weak transcription	NHLF	lung
24	chr16:69761800-69774400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
26	chr16:69762000-69773800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:69762000-69773800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:69762000-69774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:69762000-69774000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr16:69762000-69774200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr16:69762200-69773800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr16:69762200-69773800	Weak transcription	HMEC	breast
33	chr16:69762200-69774000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:69762200-69776400	Weak transcription	Small Intestine	intestine
35	chr16:69762400-69775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:69762600-69773800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:69762800-69773800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:69762800-69774200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:69762800-69774200	Weak transcription	Brain Angular Gyrus	brain
40	chr16:69762800-69774200	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:69762800-69774200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:69762800-69774400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:69762800-69775000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:69763000-69773600	Weak transcription	Hela-S3	cervix
45	chr16:69766000-69776400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:69766600-69775400	Weak transcription	Stomach Mucosa	stomach
47	chr16:69766800-69774200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:69766800-69774200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:69767400-69774000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:69767800-69774200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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