Variant report

Variant	rs56264212
Chromosome Location	chr2:10931435-10931436
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10927095..10928984-chr2:10930437..10933436,3	K562	blood:
2	chr2:10928919..10935685-chr2:10937600..10943816,9	K562	blood:
3	chr2:10931309..10945449-chr2:10946731..10956927,22	K562	blood:
4	chr2:10930748..10933243-chr2:10936511..10939337,3	K562	blood:

Variant related genes	Relation type
ENSG00000143870	Chromatin interaction
ENSG00000238962	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1198844	0.81[EUR][1000 genomes]
rs1198845	0.81[EUR][1000 genomes]
rs1198846	0.81[EUR][1000 genomes]
rs12463454	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464402	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12464513	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468989	0.81[EUR][1000 genomes]
rs12471725	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12471762	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12472302	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474895	0.81[ASN][1000 genomes]
rs12475790	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12621237	0.81[ASN][1000 genomes]
rs12623588	0.81[ASN][1000 genomes]
rs17365181	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365209	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365216	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17455708	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17456162	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046793	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306922	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856465	0.85[ASN][1000 genomes]
rs3856466	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55648622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675740	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55770944	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55863332	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55906240	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55975412	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56025654	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56093996	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56121730	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56140102	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56141717	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56143168	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56147885	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56162318	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56195743	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56260452	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56263234	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56268818	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56321198	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66538971	0.82[EUR][1000 genomes]
rs72777379	0.82[EUR][1000 genomes]
rs72777381	0.82[EUR][1000 genomes]
rs72777384	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72777388	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72777393	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72779425	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72779433	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72779445	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72779451	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72779452	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72779453	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72779459	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72779466	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72779470	0.80[AMR][1000 genomes]
rs72779474	0.80[AMR][1000 genomes]
rs72779478	0.80[AMR][1000 genomes]
rs7571007	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv580968	chr2:10923268-10933249	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
4	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
5	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
9	chr2:10916800-10937400	Strong transcription	Lung	lung
10	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
12	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:10917200-10933400	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:10917200-10933400	Strong transcription	NHLF	lung
15	chr2:10917200-10934200	Strong transcription	Adipose Nuclei	Adipose
16	chr2:10917200-10937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:10917200-10937800	Strong transcription	Thymus	Thymus
18	chr2:10917200-10939000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
22	chr2:10917400-10941200	Strong transcription	Liver	Liver
23	chr2:10917400-10942400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:10917600-10939200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:10917800-10937800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:10917800-10942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:10918000-10938200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr2:10918000-10942400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr2:10918000-10942600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:10918200-10931800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:10918200-10932800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:10918200-10933400	Strong transcription	Brain Cingulate Gyrus	brain
40	chr2:10918200-10934200	Strong transcription	Dnd41	blood
41	chr2:10918200-10937800	Strong transcription	Ovary	ovary
42	chr2:10918200-10938000	Strong transcription	Primary B cells from cord blood	blood
43	chr2:10918200-10942200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:10918200-10942600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:10918200-10943200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:10918400-10931800	Strong transcription	Aorta	Aorta
47	chr2:10918400-10943200	Strong transcription	HSMM	muscle
48	chr2:10918600-10931600	Strong transcription	Brain Anterior Caudate	brain
49	chr2:10918600-10933400	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr2:10918600-10942400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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