Variant report

Variant	rs72915026
Chromosome Location	chr2:54722190-54722191
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	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56801102	1.00[AMR][1000 genomes]
rs60870157	1.00[AMR][1000 genomes]
rs72906405	1.00[AMR][1000 genomes]
rs72906421	1.00[AMR][1000 genomes]
rs72906425	1.00[AMR][1000 genomes]
rs72906426	1.00[AMR][1000 genomes]
rs72911148	1.00[AMR][1000 genomes]
rs72913102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920524	1.00[AMR][1000 genomes]
rs72920525	1.00[AMR][1000 genomes]
rs72920549	1.00[AMR][1000 genomes]
rs72920570	1.00[AMR][1000 genomes]
rs72920576	1.00[AMR][1000 genomes]
rs7597532	0.82[AFR][1000 genomes];1.00[AMR][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	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
4	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:54714600-54724200	Weak transcription	A549	lung
11	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:54715800-54722200	Weak transcription	Spleen	Spleen
13	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:54716000-54730000	Weak transcription	NH-A	brain
15	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
16	chr2:54716400-54724200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
19	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
20	chr2:54718200-54723800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:54718200-54724200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
23	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:54718400-54723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:54718400-54723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:54719000-54722200	Weak transcription	Brain Angular Gyrus	brain
29	chr2:54719000-54724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:54719000-54725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
33	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:54719800-54723400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:54719800-54724200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:54719800-54728200	Weak transcription	Gastric	stomach
38	chr2:54720000-54723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:54720000-54724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:54720000-54724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:54720000-54724400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:54720000-54724600	Weak transcription	Liver	Liver
43	chr2:54720400-54722200	Weak transcription	Psoas Muscle	Psoas
44	chr2:54720400-54723800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:54720600-54722600	Enhancers	Fetal Heart	heart
46	chr2:54720800-54722400	Strong transcription	Fetal Lung	lung
47	chr2:54720800-54722600	Enhancers	Brain Hippocampus Middle	brain
48	chr2:54720800-54722600	Enhancers	Right Ventricle	heart
49	chr2:54721000-54722600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:54721000-54722600	Strong transcription	HepG2	liver

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