Variant report

Variant	rs4781192
Chromosome Location	chr16:12277723-12277724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12264911..12267612-chr16:12276958..12279714,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11642364	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11642867	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11643843	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644280	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11644612	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11646544	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11647545	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11647857	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12444353	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12445236	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12446101	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12447822	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1472979	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1809989	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3844114	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781189	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781190	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781191	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4781194	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4781195	0.95[ASN][1000 genomes]
rs4781196	0.96[ASN][1000 genomes]
rs55939888	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6498269	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6498270	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67401564	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7192589	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193992	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7193997	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197299	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206824	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73504103	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73521875	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8046606	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830717	0.84[CHB][hapmap]
rs9788826	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788917	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1039590	chr16:12237623-12279574	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv571461	chr16:12268830-12314451	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
4	chr16:12261200-12293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:12261200-12293600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr16:12261400-12292400	Weak transcription	GM12878-XiMat	blood
7	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:12262600-12282200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:12263200-12287600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr16:12268400-12280800	Weak transcription	Lung	lung
11	chr16:12268600-12277800	Weak transcription	Placenta	Placenta
12	chr16:12268800-12278600	Weak transcription	Brain Anterior Caudate	brain
13	chr16:12268800-12280200	Weak transcription	HepG2	liver
14	chr16:12269000-12279400	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:12271400-12293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:12272200-12280400	Weak transcription	NHDF-Ad	bronchial
17	chr16:12272200-12282200	Weak transcription	Right Atrium	heart
18	chr16:12272400-12278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:12272400-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:12272400-12279000	Weak transcription	Esophagus	oesophagus
21	chr16:12272400-12280200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:12272400-12281800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:12272400-12282600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:12272400-12282600	Weak transcription	Ovary	ovary
25	chr16:12272600-12282400	Weak transcription	Aorta	Aorta
26	chr16:12272800-12278000	Weak transcription	Fetal Kidney	kidney
27	chr16:12272800-12279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:12272800-12281600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:12273000-12278000	Weak transcription	HSMMtube	muscle
30	chr16:12274800-12278400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:12275000-12279400	Weak transcription	Spleen	Spleen
32	chr16:12275400-12280800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr16:12275800-12278000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:12275800-12278200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:12276000-12278000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:12276400-12278200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:12276600-12277800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:12276600-12279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:12276600-12279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:12276600-12281600	Weak transcription	Brain Germinal Matrix	brain
41	chr16:12276800-12278200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr16:12276800-12296800	Weak transcription	Gastric	stomach
43	chr16:12277400-12278200	Enhancers	NHEK	skin
44	chr16:12277400-12279800	Strong transcription	Primary T cells from cord blood	blood
45	chr16:12277600-12277800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:12277600-12277800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:12277600-12277800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:12277600-12278000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr16:12277600-12278200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:12277600-12278200	Enhancers	HUES64 Cell Line	embryonic stem cell

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