Variant report

Variant	rs72915040
Chromosome Location	chr2:54730841-54730842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
2	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
3	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs60282658	1.00[AMR][1000 genomes]
rs6709549	1.00[AMR][1000 genomes]
rs6728822	1.00[AMR][1000 genomes]
rs6743400	1.00[AMR][1000 genomes]
rs6743902	1.00[AMR][1000 genomes]
rs72913043	1.00[AMR][1000 genomes]
rs72915014	1.00[AMR][1000 genomes]
rs72915019	1.00[AMR][1000 genomes]
rs72915028	1.00[AMR][1000 genomes]
rs72915054	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
3	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
4	chr2:54723800-54732600	Enhancers	Fetal Heart	heart
5	chr2:54723800-54733000	Enhancers	Adipose Nuclei	Adipose
6	chr2:54724000-54731400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:54724200-54732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:54724200-54732800	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:54724400-54732800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:54724600-54732800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:54724800-54731400	Enhancers	Brain Substantia Nigra	brain
12	chr2:54724800-54732200	Enhancers	Ovary	ovary
13	chr2:54725000-54733000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:54725200-54732200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:54725200-54737600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:54725600-54732600	Weak transcription	Small Intestine	intestine
17	chr2:54725800-54731400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:54725800-54732800	Enhancers	NHDF-Ad	bronchial
19	chr2:54726000-54733000	Enhancers	Brain Angular Gyrus	brain
20	chr2:54726200-54731800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:54726400-54732200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:54726400-54740000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:54726400-54740000	Weak transcription	Pancreas	Pancrea
24	chr2:54726600-54733000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:54727400-54732400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:54727600-54737800	Weak transcription	A549	lung
27	chr2:54728000-54731400	Enhancers	Psoas Muscle	Psoas
28	chr2:54728000-54732800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:54728000-54737400	Weak transcription	HSMM	muscle
30	chr2:54728200-54732600	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:54728400-54732200	Weak transcription	Stomach Mucosa	stomach
32	chr2:54728400-54732600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:54728800-54731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:54729000-54732800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:54729000-54733400	Weak transcription	Gastric	stomach
36	chr2:54729600-54731200	Enhancers	Fetal Stomach	stomach
37	chr2:54729600-54731600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54729600-54731600	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:54729600-54732400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:54729800-54731000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:54729800-54732800	Enhancers	NHLF	lung
42	chr2:54730000-54739400	Weak transcription	Fetal Brain Female	brain
43	chr2:54730200-54731400	Weak transcription	HSMMtube	muscle
44	chr2:54730200-54732800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:54730200-54735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:54730200-54736800	Weak transcription	Placenta	Placenta
47	chr2:54730400-54732200	Weak transcription	Liver	Liver
48	chr2:54730400-54732800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:54730400-54736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:54730400-54747600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links