Variant report

Variant	rs12447095
Chromosome Location	chr16:69869763-69869764
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	chr16:69869109..69871845-chr16:69872225..69875897,4	K562	blood:

Variant related genes	Relation type
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11075738	0.86[ASN][1000 genomes]
rs11075739	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11641899	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11643817	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11645565	0.82[EUR][1000 genomes]
rs12447914	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2173714	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34378064	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4275849	0.86[ASN][1000 genomes]
rs4341733	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985374	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985418	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985445	0.97[ASN][1000 genomes]
rs4985446	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60941540	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62051384	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62051387	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62051389	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499257	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6499260	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68039170	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7193221	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7194806	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7196917	0.82[EUR][1000 genomes]
rs7202223	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206585	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8044920	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8052428	0.85[EUR][1000 genomes]
rs8059645	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8063219	0.86[ASN][1000 genomes]
rs9630631	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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:120 , 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	chr16:69833800-69874600	Weak transcription	Dnd41	blood
3	chr16:69833800-69875600	Weak transcription	NHEK	skin
4	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:69838600-69873000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:69838800-69874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:69846600-69874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:69846600-69875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:69852000-69893200	Weak transcription	K562	blood
12	chr16:69853200-69875000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:69853200-69878400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:69853400-69880000	Weak transcription	Hela-S3	cervix
15	chr16:69855200-69873800	Weak transcription	HMEC	breast
16	chr16:69855200-69875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:69855400-69874800	Weak transcription	Brain Germinal Matrix	brain
18	chr16:69855600-69877000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:69856200-69875200	Weak transcription	Fetal Brain Female	brain
20	chr16:69858400-69873800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:69858600-69873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:69862200-69872200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:69863200-69871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:69863600-69873600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr16:69864000-69871200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr16:69864000-69871600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:69864600-69874400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:69864800-69871400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:69864800-69874000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:69865000-69871400	Weak transcription	Thymus	Thymus
31	chr16:69865000-69873200	Weak transcription	Ovary	ovary
32	chr16:69865000-69875400	Weak transcription	Esophagus	oesophagus
33	chr16:69865000-69887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:69865200-69873000	Weak transcription	Aorta	Aorta
35	chr16:69865200-69873200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:69865200-69875400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:69865200-69879000	Weak transcription	NHLF	lung
38	chr16:69865400-69874800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:69865600-69871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:69865600-69881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:69866000-69873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:69866200-69872400	Weak transcription	Small Intestine	intestine
43	chr16:69867000-69874400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr16:69867000-69888400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr16:69867400-69870800	Weak transcription	Fetal Thymus	thymus
46	chr16:69867400-69874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:69867400-69881800	Weak transcription	NHDF-Ad	bronchial
48	chr16:69867600-69872200	Weak transcription	HSMM	muscle
49	chr16:69867600-69875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:69867800-69872400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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