Variant report

Variant	rs11866253
Chromosome Location	chr16:47445708-47445709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859924	1.00[AMR][1000 genomes]
rs11860204	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860378	0.82[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]
rs11864400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864575	1.00[AMR][1000 genomes]
rs11865249	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865330	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[MKK][hapmap];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:16 , 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	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	nsv960006	chr16:47435751-47460534	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47393000-47458200	Weak transcription	Pancreas	Pancrea
2	chr16:47393000-47459000	Weak transcription	NHDF-Ad	bronchial
3	chr16:47397800-47458800	Weak transcription	Colonic Mucosa	Colon
4	chr16:47404400-47458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:47404800-47458600	Weak transcription	Aorta	Aorta
6	chr16:47405600-47458200	Weak transcription	Brain Anterior Caudate	brain
7	chr16:47405800-47454000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:47409000-47450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:47409600-47458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:47409600-47458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:47409800-47454000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:47409800-47454000	Weak transcription	HSMM	muscle
13	chr16:47410000-47458400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:47417800-47447000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:47421800-47450600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:47424600-47458400	Weak transcription	Brain Angular Gyrus	brain
17	chr16:47426400-47458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:47426400-47482800	Weak transcription	NH-A	brain
19	chr16:47426600-47447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:47426600-47454200	Weak transcription	GM12878-XiMat	blood
21	chr16:47426600-47458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:47426600-47459000	Weak transcription	Osteobl	bone
23	chr16:47427200-47458600	Weak transcription	Gastric	stomach
24	chr16:47428600-47458200	Weak transcription	Brain Substantia Nigra	brain
25	chr16:47428600-47458600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:47430200-47458800	Weak transcription	Right Ventricle	heart
27	chr16:47430400-47485600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:47430600-47458200	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:47430600-47458600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:47430600-47458600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:47430800-47454200	Weak transcription	Placenta	Placenta
32	chr16:47431000-47458200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:47431200-47450600	Weak transcription	Dnd41	blood
34	chr16:47431400-47448800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:47431400-47454200	Weak transcription	Adipose Nuclei	Adipose
36	chr16:47431400-47458600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr16:47431600-47478200	Weak transcription	K562	blood
38	chr16:47431800-47449000	Weak transcription	Liver	Liver
39	chr16:47431800-47458600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:47431800-47470000	Weak transcription	Psoas Muscle	Psoas
41	chr16:47433000-47458800	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:47433000-47459000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:47434400-47458200	Weak transcription	Left Ventricle	heart
44	chr16:47434600-47458400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:47436000-47448000	Weak transcription	Primary T cells from cord blood	blood
46	chr16:47437000-47458800	Weak transcription	HSMMtube	muscle
47	chr16:47437200-47458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:47440600-47447200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:47441200-47447000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:47441600-47458600	Weak transcription	Primary monocytes fromperipheralblood	blood

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