Variant report

Variant	rs56065555
Chromosome Location	chr2:179247055-179247056
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	chr2:179235794..179238286-chr2:179245263..179248201,2	K562	blood:
2	chr2:179236786..179238675-chr2:179245263..179247101,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10497515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10497516	0.94[EUR][1000 genomes]
rs12612917	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12613131	0.83[AMR][1000 genomes]
rs12613303	1.00[AMR][1000 genomes]
rs12615980	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12616943	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12619401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16866323	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276619	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276620	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3731756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3731758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3765020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3816073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4491754	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55714261	0.94[EUR][1000 genomes]
rs55821514	1.00[AFR][1000 genomes]
rs55831332	0.99[ASN][1000 genomes]
rs56165369	1.00[AMR][1000 genomes]
rs56233214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357262	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56367852	0.83[AMR][1000 genomes]
rs62176089	0.81[ASN][1000 genomes]
rs6734446	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736173	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6736304	0.94[EUR][1000 genomes]
rs73034339	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73034346	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73034359	0.94[EUR][1000 genomes]
rs73034362	0.94[EUR][1000 genomes]
rs73034364	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73034377	0.94[EUR][1000 genomes]
rs7584420	1.00[AMR][1000 genomes];1.00[EUR][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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:179201800-179268200	Weak transcription	HSMM	muscle
4	chr2:179202400-179248000	Weak transcription	NH-A	brain
5	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
6	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
7	chr2:179215200-179248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:179217400-179248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:179219000-179248000	Weak transcription	Left Ventricle	heart
10	chr2:179225000-179257800	Weak transcription	Lung	lung
11	chr2:179226600-179257200	Weak transcription	Gastric	stomach
12	chr2:179228800-179247200	Weak transcription	HMEC	breast
13	chr2:179232000-179254200	Weak transcription	Hela-S3	cervix
14	chr2:179233000-179248200	Weak transcription	Fetal Brain Male	brain
15	chr2:179235600-179251600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:179237400-179252200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:179238400-179247600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:179238400-179251400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:179238600-179247800	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:179240000-179258200	Weak transcription	NHEK	skin
21	chr2:179240200-179256800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:179240800-179248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:179240800-179249200	Weak transcription	Aorta	Aorta
24	chr2:179240800-179252000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:179240800-179253800	Weak transcription	Right Ventricle	heart
26	chr2:179241000-179247800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:179241000-179248800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:179241800-179247600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:179241800-179262600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:179242000-179247600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:179242200-179247200	Weak transcription	Liver	Liver
32	chr2:179242200-179247800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:179242200-179254600	Weak transcription	Ovary	ovary
34	chr2:179242200-179258600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:179242400-179247800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:179242400-179247800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:179242400-179247800	Weak transcription	HSMMtube	muscle
38	chr2:179242400-179248000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:179242400-179253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:179242600-179247600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:179242600-179247600	Weak transcription	Fetal Brain Female	brain
42	chr2:179242600-179247800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:179242600-179247800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:179242600-179248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:179242600-179250000	Weak transcription	Fetal Stomach	stomach
46	chr2:179245800-179251400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:179246000-179256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:179246200-179250400	Weak transcription	K562	blood
49	chr2:179246400-179251400	Weak transcription	HUVEC	blood vessel
50	chr2:179246600-179257200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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