Variant report

Variant	rs12053046
Chromosome Location	chr2:172673399-172673400
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	chr2:172665538..172668846-chr2:172671446..172673879,3	K562	blood:
2	chr2:172665538..172668649-chr2:172671446..172673581,3	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12614709	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12619041	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12620126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12622772	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12622895	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17581361	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17581439	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17615262	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176465	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736499	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765166	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765167	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770448	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3770449	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3770455	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821093	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55864623	0.85[EUR][1000 genomes]
rs55957712	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56275355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57718990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57775770	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58540694	0.81[ASN][1000 genomes]
rs62182370	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62182372	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182373	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182374	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62182392	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72881938	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72885532	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72885545	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72889848	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7584258	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
7	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
12	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
15	chr2:172649000-172687400	Weak transcription	Gastric	stomach
16	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:172650400-172687600	Weak transcription	Lung	lung
21	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
22	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
23	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172655400-172687400	Weak transcription	A549	lung
25	chr2:172655600-172674600	Weak transcription	HSMM	muscle
26	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
27	chr2:172655600-172687400	Weak transcription	NH-A	brain
28	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:172656000-172679600	Weak transcription	Osteobl	bone
30	chr2:172656200-172683800	Weak transcription	Thymus	Thymus
31	chr2:172656400-172682000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:172656400-172684200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:172656400-172684400	Weak transcription	Aorta	Aorta
34	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:172662600-172682000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:172663000-172682600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
38	chr2:172664000-172674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:172664200-172687400	Weak transcription	K562	blood
40	chr2:172664400-172679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
42	chr2:172664600-172674800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:172664600-172684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:172664600-172687400	Weak transcription	NHEK	skin
45	chr2:172664800-172680400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:172664800-172687600	Weak transcription	HMEC	breast
48	chr2:172665200-172681800	Weak transcription	HepG2	liver
49	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
50	chr2:172666200-172678800	Weak transcription	Primary monocytes fromperipheralblood	blood

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