Variant report

Variant	rs62158022
Chromosome Location	chr2:99323030-99323031
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172913	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10496329	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12468086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469616	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2309434	0.83[ASN][1000 genomes]
rs2871235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633363	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55646762	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56027617	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56354279	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56363239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375699	0.83[ASN][1000 genomes]
rs60889948	0.80[ASN][1000 genomes]
rs62158010	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62158015	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62158019	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62158020	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6742760	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882164	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:99313000-99327000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:99313200-99326600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:99316400-99325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:99316600-99336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:99318000-99325200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:99319000-99325400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:99319200-99323200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:99319200-99324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:99319200-99325000	Weak transcription	Psoas Muscle	Psoas
13	chr2:99319200-99325400	Weak transcription	Aorta	Aorta
14	chr2:99319200-99325400	Weak transcription	Ovary	ovary
15	chr2:99319200-99336800	Weak transcription	Spleen	Spleen
16	chr2:99319400-99324000	Weak transcription	Brain Substantia Nigra	brain
17	chr2:99319800-99325400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:99320200-99325400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:99320400-99324000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:99320400-99325000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:99320400-99325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:99320400-99325400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:99320400-99325600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:99320400-99325800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:99320600-99323200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:99320600-99324000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:99320600-99325000	Weak transcription	HUVEC	blood vessel
28	chr2:99320600-99325200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:99320600-99325400	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:99320600-99327600	Weak transcription	Thymus	Thymus
31	chr2:99320800-99324000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:99320800-99325400	Weak transcription	Gastric	stomach
33	chr2:99321000-99336200	Weak transcription	Fetal Stomach	stomach
34	chr2:99321200-99324000	Weak transcription	Small Intestine	intestine
35	chr2:99321200-99326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:99321200-99335000	Weak transcription	Lung	lung
37	chr2:99321600-99323400	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:99321600-99336600	Weak transcription	Fetal Kidney	kidney
39	chr2:99321800-99325000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:99321800-99325400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:99322000-99323800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:99322000-99324000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:99322000-99324000	Weak transcription	Pancreas	Pancrea
44	chr2:99322000-99324000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:99322000-99324200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:99322000-99325200	Weak transcription	Left Ventricle	heart
47	chr2:99322000-99325600	Weak transcription	Esophagus	oesophagus
48	chr2:99322000-99325600	Weak transcription	Fetal Thymus	thymus
49	chr2:99322000-99325600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:99322000-99326200	Weak transcription	Stomach Mucosa	stomach

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