Variant report

Variant	rs11864400
Chromosome Location	chr16:47541515-47541516
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	chr16:47541164..47545156-chr16:47546024..47549793,5	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11859041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859924	1.00[AMR][1000 genomes]
rs11860204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864575	1.00[AMR][1000 genomes]
rs11865249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12103147	1.00[AMR][1000 genomes]
rs13332639	1.00[AMR][1000 genomes]
rs13336222	1.00[AMR][1000 genomes]
rs13337120	1.00[AMR][1000 genomes]
rs28512495	1.00[AMR][1000 genomes]
rs28654807	1.00[AMR][1000 genomes]
rs28772732	1.00[AMR][1000 genomes]
rs28797865	1.00[AMR][1000 genomes]
rs35691326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930900	1.00[AMR][1000 genomes]
rs9940720	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
10	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS 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 target site	14 gene(s)	inside rSNPs	diseases
12	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
13	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
14	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47524600-47545800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:47528200-47545400	Weak transcription	Small Intestine	intestine
4	chr16:47532000-47541600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:47532400-47542000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr16:47535200-47548400	Weak transcription	Fetal Heart	heart
7	chr16:47537200-47557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:47538200-47543200	Weak transcription	K562	blood
9	chr16:47538200-47545800	Weak transcription	Fetal Kidney	kidney
10	chr16:47538200-47568800	Weak transcription	Brain Angular Gyrus	brain
11	chr16:47538400-47557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:47538800-47546200	Weak transcription	NHLF	lung
13	chr16:47539000-47543800	Weak transcription	HSMMtube	muscle
14	chr16:47539000-47545000	Weak transcription	Osteobl	bone
15	chr16:47539000-47545800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:47539000-47545800	Weak transcription	Aorta	Aorta
17	chr16:47539000-47545800	Weak transcription	HSMM	muscle
18	chr16:47539000-47546800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:47539000-47554400	Weak transcription	Fetal Brain Male	brain
20	chr16:47539000-47560200	Weak transcription	HMEC	breast
21	chr16:47539200-47542800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:47539200-47543200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:47539200-47543200	Weak transcription	Ovary	ovary
24	chr16:47539200-47543400	Weak transcription	Liver	Liver
25	chr16:47539200-47543600	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:47539200-47543800	Weak transcription	Placenta	Placenta
27	chr16:47539200-47545200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:47539200-47545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:47539200-47545400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:47539200-47545600	Weak transcription	Brain Hippocampus Middle	brain
31	chr16:47539200-47545600	Weak transcription	Right Ventricle	heart
32	chr16:47539200-47545800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:47539200-47545800	Weak transcription	Esophagus	oesophagus
34	chr16:47539200-47545800	Weak transcription	NHDF-Ad	bronchial
35	chr16:47539200-47546400	Weak transcription	HUVEC	blood vessel
36	chr16:47539200-47547200	Weak transcription	Psoas Muscle	Psoas
37	chr16:47539200-47557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:47539200-47563800	Weak transcription	Hela-S3	cervix
39	chr16:47539200-47569600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:47539200-47580400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:47539400-47541800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:47539400-47543200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:47539400-47543400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:47539400-47543600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:47539400-47543600	Weak transcription	Brain Anterior Caudate	brain
46	chr16:47539400-47543600	Weak transcription	Left Ventricle	heart
47	chr16:47539400-47543800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:47539400-47543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:47539400-47543800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:47539400-47543800	Weak transcription	Colonic Mucosa	Colon

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