Variant report

Variant	rs2916069
Chromosome Location	chr19:19520358-19520359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19517676..19523653-chr19:19565926..19570851,6	K562	blood:
2	chr19:19471807..19473725-chr19:19518188..19520974,2	K562	blood:
3	chr19:19519805..19521420-chr19:19608608..19610540,2	MCF-7	breast:
4	chr19:19518149..19520841-chr19:19526563..19530203,3	MCF-7	breast:
5	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
6	chr19:19519872..19522275-chr19:19586096..19589416,3	K562	blood:
7	chr19:19520080..19522054-chr19:19587916..19589786,2	K562	blood:
8	chr19:19514595..19517232-chr19:19518026..19521023,2	MCF-7	breast:
9	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
10	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
11	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1000237	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10402308	0.82[ASN][1000 genomes]
rs10402451	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10402627	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10405625	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10410664	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10414830	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10419912	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10422819	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1047361	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1054284	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1054930	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1063966	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11669516	0.84[ASN][1000 genomes]
rs12972397	0.84[ASN][1000 genomes]
rs12973258	0.87[ASN][1000 genomes]
rs12975119	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12977524	0.84[ASN][1000 genomes]
rs13964	0.80[AMR][1000 genomes]
rs1469712	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1469713	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs15622	0.80[AMR][1000 genomes]
rs17288409	0.88[ASN][1000 genomes]
rs1808653	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1858999	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1865034	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074088	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2082421	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2099334	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2163804	0.84[ASN][1000 genomes]
rs2163805	0.84[ASN][1000 genomes]
rs2288852	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2304098	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2315279	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2315281	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2315283	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2315610	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28478453	0.82[ASN][1000 genomes]
rs2905424	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2905425	0.82[EUR][1000 genomes]
rs2905430	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2905431	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2905432	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2905435	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2916073	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2916074	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2916076	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965175	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2965180	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2965182	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965183	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965185	0.98[AFR][1000 genomes]
rs2965188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2965189	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965198	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2965199	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34277109	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34538000	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34647936	0.84[ASN][1000 genomes]
rs35418933	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752151	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3794990	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3794993	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4808198	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808199	0.84[ASN][1000 genomes]
rs4808200	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808202	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808203	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808208	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4808950	0.91[ASN][1000 genomes]
rs4808955	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808957	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808959	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808960	0.84[ASN][1000 genomes]
rs4808961	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4808964	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4808965	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4808967	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60003758	0.84[ASN][1000 genomes]
rs60321073	0.88[ASN][1000 genomes]
rs6511032	0.82[AMR][1000 genomes]
rs6511036	0.82[ASN][1000 genomes]
rs6511038	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6909	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7245983	0.83[ASN][1000 genomes]
rs7250893	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7253807	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7256149	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747050	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs751856	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs751858	0.87[ASN][1000 genomes]
rs754255	0.84[ASN][1000 genomes]
rs892021	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs892022	0.83[AMR][1000 genomes]
rs9917108	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19518000-19521800	Weak transcription	Aorta	Aorta
2	chr19:19518200-19521600	Enhancers	Fetal Thymus	thymus
3	chr19:19518200-19521600	Enhancers	Stomach Mucosa	stomach
4	chr19:19518200-19522000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:19518200-19522800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19518400-19520800	Enhancers	Dnd41	blood
7	chr19:19518400-19521400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:19518400-19521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr19:19518400-19521600	Enhancers	NHEK	skin
10	chr19:19518400-19521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr19:19518400-19522000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr19:19518400-19522000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:19518400-19522000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr19:19518400-19522600	Enhancers	Primary T cells from cord blood	blood
15	chr19:19518400-19522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:19518400-19522800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr19:19518400-19525200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:19518600-19520400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:19518600-19520400	Enhancers	NHDF-Ad	bronchial
20	chr19:19518600-19520800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr19:19518600-19520800	Weak transcription	Colonic Mucosa	Colon
22	chr19:19518600-19520800	Enhancers	Fetal Intestine Small	intestine
23	chr19:19518600-19520800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:19518600-19521000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:19518600-19521000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr19:19518600-19521200	Weak transcription	Brain Anterior Caudate	brain
27	chr19:19518600-19521400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:19518600-19521400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:19518600-19521400	Weak transcription	Fetal Stomach	stomach
30	chr19:19518600-19521600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:19518600-19522000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr19:19518600-19522000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:19518600-19522000	Enhancers	HSMM	muscle
34	chr19:19518600-19522200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:19518600-19522200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:19518600-19522400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr19:19518600-19522400	Enhancers	Colon Smooth Muscle	Colon
38	chr19:19518600-19522600	Enhancers	Adipose Nuclei	Adipose
39	chr19:19518600-19522800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:19518600-19522800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr19:19518600-19527000	Weak transcription	Brain Angular Gyrus	brain
42	chr19:19518600-19529400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:19518600-19549800	Weak transcription	Fetal Brain Female	brain
44	chr19:19518800-19520400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:19518800-19520400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr19:19518800-19521400	Enhancers	Primary hematopoietic stem cells	blood
47	chr19:19518800-19521400	Weak transcription	Brain Hippocampus Middle	brain
48	chr19:19518800-19521600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr19:19518800-19521600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:19518800-19522000	Enhancers	Primary T helper cells PMA-I stimulated	--

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