Variant report

Variant	rs56726308
Chromosome Location	chr2:54216787-54216788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54196870..54199646-chr2:54215437..54217712,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55765824	0.89[AFR][1000 genomes]
rs56912987	0.89[AFR][1000 genomes]
rs60944217	0.81[AFR][1000 genomes]
rs61478491	0.89[AFR][1000 genomes]
rs73935008	1.00[AFR][1000 genomes]
rs73935033	1.00[AFR][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	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
3	chr2:54200400-54218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:54204400-54226400	Weak transcription	Pancreas	Pancrea
5	chr2:54205200-54222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:54206000-54221600	Weak transcription	Thymus	Thymus
7	chr2:54206000-54226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:54206400-54220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:54208200-54221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:54208400-54248200	Weak transcription	Lung	lung
11	chr2:54208600-54219000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:54208600-54220200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:54209000-54221400	Weak transcription	Fetal Thymus	thymus
14	chr2:54209000-54221600	Weak transcription	Dnd41	blood
15	chr2:54211200-54219000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:54211200-54220600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:54211400-54217800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:54211400-54220200	Weak transcription	Primary B cells from cord blood	blood
19	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
21	chr2:54213800-54217200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:54214200-54217000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:54214800-54217200	Weak transcription	Fetal Stomach	stomach
24	chr2:54214800-54219000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:54215000-54216800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:54215000-54216800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:54215000-54219000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:54215000-54219200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:54215000-54220600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:54215000-54226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:54215000-54226000	Weak transcription	HSMMtube	muscle
32	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:54215200-54219200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:54215200-54219400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:54215200-54220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:54215200-54220000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:54215200-54220400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:54215200-54220400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:54215200-54225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:54215400-54220200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:54215400-54220200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:54215600-54217000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:54215800-54217200	Enhancers	HepG2	liver
44	chr2:54216000-54217000	Enhancers	Psoas Muscle	Psoas
45	chr2:54216200-54217000	Enhancers	Right Atrium	heart
46	chr2:54216200-54217000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:54216400-54217000	Enhancers	Osteobl	bone
48	chr2:54216400-54242000	Weak transcription	Fetal Intestine Small	intestine
49	chr2:54216600-54216800	Enhancers	Brain Anterior Caudate	brain
50	chr2:54216600-54216800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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