Variant report

Variant	rs72916709
Chromosome Location	chr2:55386841-55386842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55277314..55278923-chr2:55386826..55389173,2	K562	blood:
2	chr2:55385743..55388295-chr2:55460088..55461878,2	K562	blood:
3	chr2:55381461..55384180-chr2:55385114..55387794,2	MCF-7	breast:
4	chr2:55385743..55388454-chr2:55459849..55461588,2	K562	blood:
5	chr2:55272933..55279731-chr2:55382949..55387132,8	K562	blood:

Variant related genes	Relation type
ENSG00000143947	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12105622	1.00[EUR][1000 genomes]
rs72914591	1.00[EUR][1000 genomes]
rs72914592	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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
3	chr2:55379400-55387000	Enhancers	Fetal Intestine Small	intestine
4	chr2:55381000-55387800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:55381000-55391000	Enhancers	Stomach Mucosa	stomach
6	chr2:55381200-55390600	Enhancers	Brain Angular Gyrus	brain
7	chr2:55381800-55387200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:55383400-55390000	Weak transcription	Fetal Kidney	kidney
9	chr2:55383600-55387200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:55383600-55388600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
12	chr2:55383800-55387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:55383800-55387000	Enhancers	Lung	lung
14	chr2:55383800-55387200	Enhancers	Right Atrium	heart
15	chr2:55383800-55387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:55383800-55387600	Enhancers	Fetal Thymus	thymus
17	chr2:55383800-55388600	Enhancers	Brain Anterior Caudate	brain
18	chr2:55384000-55387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:55384000-55387000	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:55384000-55387600	Enhancers	HSMM	muscle
21	chr2:55384000-55389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:55384000-55389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:55384000-55390600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:55384000-55392800	Weak transcription	HMEC	breast
25	chr2:55384200-55387000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:55384200-55388800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:55384200-55389000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:55384200-55390600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:55384400-55388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:55384800-55389800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:55384800-55392200	Weak transcription	Right Ventricle	heart
32	chr2:55385000-55387000	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:55385000-55387400	Enhancers	Fetal Heart	heart
34	chr2:55385000-55388400	Weak transcription	Fetal Brain Male	brain
35	chr2:55385000-55389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:55385200-55387200	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:55385200-55388800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:55385200-55389800	Weak transcription	Fetal Lung	lung
39	chr2:55385400-55387400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:55385400-55387400	Enhancers	Thymus	Thymus
41	chr2:55385400-55388600	Enhancers	Brain Substantia Nigra	brain
42	chr2:55385400-55389200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:55385400-55390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:55385400-55390600	Weak transcription	A549	lung
45	chr2:55385600-55388800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:55386000-55395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:55386400-55387000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:55386400-55387000	Enhancers	Psoas Muscle	Psoas
49	chr2:55386600-55388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:55386600-55388600	Weak transcription	Primary hematopoietic stem cells	blood

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