Variant report

Variant	rs9926028
Chromosome Location	chr16:82044581-82044582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82044521..82045314-chr3:149470159..149470736,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000114744	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11859929	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861598	0.84[ASW][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11862886	0.90[AFR][1000 genomes]
rs12102588	1.00[EUR][1000 genomes]
rs13331078	1.00[EUR][1000 genomes]
rs13333401	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336862	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337293	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13338881	1.00[EUR][1000 genomes]
rs16956212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956238	0.84[AFR][1000 genomes]
rs16956244	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16956274	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs16956406	1.00[TSI][hapmap]
rs28435702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666081	1.00[EUR][1000 genomes]
rs28676286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28709269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4399528	0.83[AMR][1000 genomes]
rs4435247	1.00[TSI][hapmap]
rs4889446	1.00[TSI][hapmap]
rs7187542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045494	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8046533	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8048090	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8049750	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8062348	1.00[TSI][hapmap]
rs8063275	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191048	1.00[GIH][hapmap]
rs8191049	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191050	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191167	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926211	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926471	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926701	0.84[ASW][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9937619	1.00[EUR][1000 genomes]
rs9941115	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82043200-82044600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:82043200-82044800	Weak transcription	Aorta	Aorta
3	chr16:82043200-82045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:82044000-82044600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:82044000-82044600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82044000-82044800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr16:82044000-82045400	Active TSS	Fetal Intestine Small	intestine
8	chr16:82044200-82044600	Flanking Active TSS	Liver	Liver
9	chr16:82044200-82044600	Flanking Active TSS	Pancreas	Pancrea
10	chr16:82044200-82044600	Enhancers	Small Intestine	intestine
11	chr16:82044200-82044600	Active TSS	Stomach Smooth Muscle	stomach
12	chr16:82044200-82044800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr16:82044200-82044800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr16:82044200-82044800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr16:82044200-82044800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr16:82044200-82045200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:82044200-82045200	Active TSS	Fetal Thymus	thymus
18	chr16:82044200-82045200	Active TSS	K562	blood
19	chr16:82044200-82045400	Active TSS	Fetal Intestine Large	intestine
20	chr16:82044200-82045400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr16:82044200-82045600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:82044200-82045600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:82044200-82045600	Active TSS	Fetal Kidney	kidney
24	chr16:82044200-82045600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr16:82044200-82045600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr16:82044400-82044600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:82044400-82044600	Active TSS	Primary B cells from cord blood	blood
28	chr16:82044400-82044600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:82044400-82044600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:82044400-82044600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:82044400-82044600	Active TSS	Fetal Stomach	stomach
32	chr16:82044400-82044600	Weak transcription	Gastric	stomach
33	chr16:82044400-82044600	Flanking Active TSS	Thymus	Thymus
34	chr16:82044400-82044800	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr16:82044400-82044800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr16:82044400-82044800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr16:82044400-82044800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr16:82044400-82044800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr16:82044400-82044800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:82044400-82044800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:82044400-82045000	Active TSS	Osteobl	bone
42	chr16:82044400-82045200	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr16:82044400-82045200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr16:82044400-82045200	Active TSS	Colonic Mucosa	Colon
45	chr16:82044400-82045200	Active TSS	Esophagus	oesophagus
46	chr16:82044400-82045200	Active TSS	HMEC	breast
47	chr16:82044400-82045200	Active TSS	NHEK	skin
48	chr16:82044400-82045400	Active TSS	Colon Smooth Muscle	Colon
49	chr16:82044400-82045400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr16:82044400-82045400	Active TSS	Rectal Mucosa Donor 31	rectum

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