Variant report

Variant	rs72825784
Chromosome Location	chr2:99334539-99334540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10496330	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877905	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59313126	0.86[EUR][1000 genomes]
rs59989465	0.86[EUR][1000 genomes]
rs72825777	0.84[EUR][1000 genomes]
rs72825780	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72825782	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72825789	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72825790	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72825800	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72825801	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72827704	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72827705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72827707	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72827708	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72827713	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72827717	0.93[EUR][1000 genomes]
rs72827722	0.93[EUR][1000 genomes]
rs72827724	0.93[EUR][1000 genomes]
rs72827727	0.86[EUR][1000 genomes]
rs72827729	0.86[EUR][1000 genomes]
rs72827731	0.86[EUR][1000 genomes]
rs72827732	0.86[EUR][1000 genomes]
rs72827733	0.86[EUR][1000 genomes]
rs72827734	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:99316600-99336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:99319200-99336800	Weak transcription	Spleen	Spleen
4	chr2:99321000-99336200	Weak transcription	Fetal Stomach	stomach
5	chr2:99321200-99335000	Weak transcription	Lung	lung
6	chr2:99321600-99336600	Weak transcription	Fetal Kidney	kidney
7	chr2:99322000-99336800	Weak transcription	Colonic Mucosa	Colon
8	chr2:99322200-99336200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:99324200-99336600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:99325600-99336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:99326400-99336000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:99326400-99336800	Weak transcription	Aorta	Aorta
13	chr2:99326400-99342600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:99326400-99343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:99326400-99346400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:99326600-99336800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:99326600-99336800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:99326600-99336800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:99326600-99340000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:99326800-99335000	Weak transcription	Brain Substantia Nigra	brain
21	chr2:99326800-99336600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:99326800-99336600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:99326800-99336800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:99326800-99337000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:99326800-99342600	Weak transcription	Liver	Liver
26	chr2:99326800-99343800	Weak transcription	Small Intestine	intestine
27	chr2:99327200-99336800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:99327600-99335000	Weak transcription	Right Ventricle	heart
29	chr2:99327800-99336000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:99328000-99335600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:99328400-99336600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:99328400-99336800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:99328600-99336600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:99328600-99336800	Weak transcription	Left Ventricle	heart
35	chr2:99328800-99337000	Weak transcription	Psoas Muscle	Psoas
36	chr2:99329400-99335200	Weak transcription	Thymus	Thymus
37	chr2:99329400-99336600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:99329600-99339600	Weak transcription	Right Atrium	heart
39	chr2:99330400-99334800	Weak transcription	Stomach Mucosa	stomach
40	chr2:99330600-99336600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:99330800-99336400	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr2:99330800-99336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:99331200-99335000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:99331200-99335000	Weak transcription	Gastric	stomach
45	chr2:99331200-99335000	Weak transcription	Pancreas	Pancrea
46	chr2:99331200-99337400	Weak transcription	HUVEC	blood vessel
47	chr2:99332200-99334800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:99332600-99335400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:99332600-99336200	Strong transcription	Fetal Intestine Small	intestine
50	chr2:99332600-99337200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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