Variant report

Variant	rs11075739
Chromosome Location	chr16:69864234-69864235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11075738	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641899	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11643817	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11645565	0.84[EUR][1000 genomes]
rs12447095	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12447914	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173714	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34378064	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3790085	0.81[ASN][1000 genomes]
rs3790086	0.81[ASN][1000 genomes]
rs4275849	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4341733	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985374	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985418	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985445	0.94[ASN][1000 genomes]
rs4985446	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60941540	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62051384	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62051387	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62051389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499257	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68039170	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7193221	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7194806	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7196917	0.84[EUR][1000 genomes]
rs7202223	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206585	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8044920	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052428	0.88[EUR][1000 genomes]
rs8059645	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8063219	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9630631	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
3	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:69833800-69874600	Weak transcription	Dnd41	blood
5	chr16:69833800-69875600	Weak transcription	NHEK	skin
6	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:69836400-69867400	Weak transcription	Colonic Mucosa	Colon
9	chr16:69836800-69864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:69837800-69864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:69838600-69873000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:69838800-69864400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:69838800-69874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:69846600-69874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:69846600-69875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:69852000-69893200	Weak transcription	K562	blood
18	chr16:69853000-69867600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:69853200-69864600	Weak transcription	Spleen	Spleen
20	chr16:69853200-69864800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:69853200-69867200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:69853200-69875000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:69853200-69878400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:69853400-69867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:69853400-69867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:69853400-69867200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:69853400-69867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:69853400-69880000	Weak transcription	Hela-S3	cervix
29	chr16:69853600-69867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:69855200-69867200	Weak transcription	HSMMtube	muscle
31	chr16:69855200-69873800	Weak transcription	HMEC	breast
32	chr16:69855200-69875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:69855400-69864400	Weak transcription	Aorta	Aorta
34	chr16:69855400-69867200	Weak transcription	Placenta	Placenta
35	chr16:69855400-69867600	Weak transcription	Gastric	stomach
36	chr16:69855400-69874800	Weak transcription	Brain Germinal Matrix	brain
37	chr16:69855600-69864400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:69855600-69864400	Weak transcription	NHLF	lung
39	chr16:69855600-69864800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:69855600-69865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:69855600-69867000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:69855600-69867000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:69855600-69867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:69855600-69867200	Weak transcription	HSMM	muscle
45	chr16:69855600-69868800	Weak transcription	Fetal Brain Male	brain
46	chr16:69855600-69877000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:69856200-69875200	Weak transcription	Fetal Brain Female	brain
48	chr16:69858200-69864400	Weak transcription	Brain Anterior Caudate	brain
49	chr16:69858200-69864400	Weak transcription	Brain Substantia Nigra	brain
50	chr16:69858200-69864800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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