Variant report

Variant	rs62053210
Chromosome Location	chr16:31549371-31549372
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	chr16:31542180..31543844-chr16:31548477..31549987,2	K562	blood:
2	chr16:31518860..31520696-chr16:31547620..31550269,2	K562	blood:

Variant related genes	Relation type
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10083733	0.92[EUR][1000 genomes]
rs11862435	0.90[EUR][1000 genomes]
rs11865800	0.92[EUR][1000 genomes]
rs11866003	0.90[ASN][1000 genomes]
rs13331375	0.92[EUR][1000 genomes]
rs13331417	0.90[EUR][1000 genomes]
rs13334766	0.90[EUR][1000 genomes]
rs13338939	0.94[ASN][1000 genomes]
rs13339026	0.94[ASN][1000 genomes]
rs17677	0.95[ASN][1000 genomes]
rs28496948	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28509322	0.94[ASN][1000 genomes]
rs28788792	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4296276	0.94[ASN][1000 genomes]
rs4499252	0.94[ASN][1000 genomes]
rs4503808	0.94[ASN][1000 genomes]
rs4550471	0.92[EUR][1000 genomes]
rs4553646	0.94[ASN][1000 genomes]
rs4564590	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889545	0.90[ASN][1000 genomes]
rs4889667	0.90[ASN][1000 genomes]
rs4889670	0.92[ASN][1000 genomes]
rs4889671	0.92[ASN][1000 genomes]
rs4889672	0.93[ASN][1000 genomes]
rs56006318	0.90[EUR][1000 genomes]
rs56354977	0.90[EUR][1000 genomes]
rs57204609	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58618301	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58729087	0.90[ASN][1000 genomes]
rs58790407	0.92[EUR][1000 genomes]
rs58939333	0.92[EUR][1000 genomes]
rs59050904	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59813627	0.90[ASN][1000 genomes]
rs60650248	0.90[EUR][1000 genomes]
rs61183892	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62053184	0.94[ASN][1000 genomes]
rs62053205	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62053209	0.96[ASN][1000 genomes]
rs62053212	0.97[EUR][1000 genomes]
rs62053215	0.95[EUR][1000 genomes]
rs6565248	0.92[EUR][1000 genomes]
rs6565249	0.92[EUR][1000 genomes]
rs7189787	0.90[EUR][1000 genomes]
rs7190117	0.92[EUR][1000 genomes]
rs7190986	0.90[EUR][1000 genomes]
rs7196030	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7196319	0.94[ASN][1000 genomes]
rs7196393	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7202020	0.94[ASN][1000 genomes]
rs7203199	0.94[ASN][1000 genomes]
rs8056084	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8057393	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921592	0.92[ASN][1000 genomes]
rs9921597	0.94[ASN][1000 genomes]
rs9923241	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923480	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9928760	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9929779	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9929825	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9933399	0.92[EUR][1000 genomes]
rs9937077	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9937367	0.94[ASN][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	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
3	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
4	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
5	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
7	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv960003	chr16:31540814-31561659	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31546800-31549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:31548200-31549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:31548400-31549600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:31548400-31549600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr16:31548600-31549400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr16:31548600-31549400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:31548600-31549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr16:31548600-31549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr16:31548600-31549400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:31548600-31549400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:31548600-31549400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr16:31548600-31549400	Active TSS	Fetal Kidney	kidney
13	chr16:31548600-31549400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr16:31548600-31549400	Enhancers	Placenta	Placenta
15	chr16:31548600-31549400	Bivalent/Poised TSS	Left Ventricle	heart
16	chr16:31548600-31549400	Active TSS	Pancreas	Pancrea
17	chr16:31548600-31549400	Active TSS	Right Ventricle	heart
18	chr16:31548600-31549600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr16:31548600-31549600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr16:31548800-31549400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:31548800-31549400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:31548800-31549400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:31548800-31549400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr16:31548800-31549400	Active TSS	Primary T cells from cord blood	blood
25	chr16:31548800-31549400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr16:31548800-31549400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr16:31548800-31549400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:31548800-31549400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr16:31548800-31549400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr16:31548800-31549400	Active TSS	Right Atrium	heart
31	chr16:31548800-31549400	Bivalent/Poised TSS	Thymus	Thymus
32	chr16:31549000-31549400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr16:31549000-31549400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:31549000-31549400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:31549000-31549400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:31549000-31549400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr16:31549000-31549400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr16:31549000-31549400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
39	chr16:31549000-31549400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:31549000-31549400	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr16:31549000-31549400	Bivalent/Poised TSS	NH-A	brain
42	chr16:31549200-31549400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr16:31549200-31549400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:31549200-31549400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr16:31549200-31549400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr16:31549200-31549400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr16:31549200-31549400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
48	chr16:31549200-31549400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr16:31549200-31549400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:31549200-31549400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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