Variant report

Variant	rs56279626
Chromosome Location	chr2:233919481-233919482
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233919381..233921351-chr2:233923407..233926039,2	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10211511	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694923	0.90[EUR][1000 genomes]
rs13017176	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017623	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391656	0.82[ASN][1000 genomes]
rs13392069	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401226	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408428	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408980	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344913	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574597	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177313	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34383725	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513284	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35213087	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237010	0.82[ASN][1000 genomes]
rs35487055	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073603	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405750	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439944	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62194574	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759511	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917223	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917354	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917366	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917368	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233916600-233924000	Weak transcription	Esophagus	oesophagus
3	chr2:233916600-233924000	Weak transcription	Right Atrium	heart
4	chr2:233916600-233924600	Weak transcription	Pancreas	Pancrea
5	chr2:233917000-233925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:233917400-233926000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:233918400-233919600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:233918600-233919600	Enhancers	Brain Substantia Nigra	brain
9	chr2:233918600-233919600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:233918600-233919600	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr2:233918600-233919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:233918600-233920000	Enhancers	Placenta	Placenta
13	chr2:233918600-233920200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:233919000-233920000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:233919000-233920000	Bivalent Enhancer	HepG2	liver
16	chr2:233919000-233923600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:233919000-233923800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:233919000-233923800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:233919000-233924000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:233919000-233924200	Weak transcription	Liver	Liver
21	chr2:233919000-233925200	Weak transcription	Brain Angular Gyrus	brain
22	chr2:233919000-233925200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:233919200-233919600	Enhancers	Osteobl	bone
24	chr2:233919200-233919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:233919200-233919800	Weak transcription	Lung	lung
26	chr2:233919200-233923000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:233919200-233923000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:233919200-233923200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:233919200-233923400	Weak transcription	Spleen	Spleen
30	chr2:233919200-233923600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:233919200-233923800	Weak transcription	Primary B cells from cord blood	blood
32	chr2:233919200-233923800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:233919200-233923800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:233919200-233925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:233919400-233919800	Weak transcription	Right Ventricle	heart
36	chr2:233919400-233921800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:233919400-233921800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:233919400-233922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:233919400-233923400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:233919400-233923600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:233919400-233923800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:233919400-233923800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:233919400-233923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:233919400-233923800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:233919400-233923800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:233919400-233924000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:233919400-233924000	Weak transcription	Brain Hippocampus Middle	brain

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