Variant report

Variant	rs72914518
Chromosome Location	chr2:55326496-55326497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55278300..55281080-chr2:55325086..55327233,3	K562	blood:
2	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
3	chr2:55312676..55314647-chr2:55325733..55328474,2	K562	blood:
4	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
5	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:
6	chr2:55326388..55330538-chr2:55335061..55337994,3	K562	blood:
7	chr2:55326463..55328844-chr2:55338475..55342420,4	K562	blood:

Variant related genes	Relation type
ENSG00000266376	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56153341	0.84[AFR][1000 genomes]
rs58954291	0.81[AFR][1000 genomes]
rs60109716	0.81[AFR][1000 genomes]
rs61344395	1.00[AFR][1000 genomes]
rs72910870	0.81[AFR][1000 genomes]
rs72912565	0.84[AFR][1000 genomes]
rs72912586	0.81[AFR][1000 genomes]
rs72912597	0.81[AFR][1000 genomes]
rs72914504	0.81[AFR][1000 genomes]
rs72914511	0.81[AFR][1000 genomes]
rs7583051	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006172	chr2:55322883-55340812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2760568	chr2:55322895-55330350	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2763510	chr2:55322895-55330350	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3345871	chr2:55323717-55336931	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457756	chr2:55323755-55336917	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457755	chr2:55323788-55336864	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457757	chr2:55323788-55336864	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv9883	chr2:55323841-55336774	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv999212	chr2:55324276-55340812	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004503	chr2:55324276-55343705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv997458	chr2:55324276-55344326	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2421886	chr2:55324288-55335045	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3693301	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv517331	chr2:55324960-55335045	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv817951	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:55321000-55326600	Weak transcription	HMEC	breast
5	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
7	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:55322000-55326600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:55322000-55326600	Weak transcription	NHEK	skin
10	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
11	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:55322800-55327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:55322800-55327200	Enhancers	Adipose Nuclei	Adipose
15	chr2:55323600-55326600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:55323600-55326600	Enhancers	HSMMtube	muscle
17	chr2:55323600-55326600	Enhancers	NHLF	lung
18	chr2:55323600-55326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:55323600-55327200	Enhancers	Osteobl	bone
20	chr2:55323600-55328200	Enhancers	K562	blood
21	chr2:55323600-55330000	Enhancers	HSMM	muscle
22	chr2:55323800-55327200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:55323800-55327200	Enhancers	Dnd41	blood
24	chr2:55323800-55327400	Enhancers	NHDF-Ad	bronchial
25	chr2:55323800-55327800	Enhancers	Brain Hippocampus Middle	brain
26	chr2:55323800-55329800	Enhancers	NH-A	brain
27	chr2:55324000-55327400	Weak transcription	Lung	lung
28	chr2:55324400-55327400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:55324600-55326600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:55324600-55326600	Weak transcription	Right Ventricle	heart
31	chr2:55324800-55327000	Weak transcription	Fetal Lung	lung
32	chr2:55324800-55327600	Weak transcription	Placenta	Placenta
33	chr2:55325000-55326600	Weak transcription	Aorta	Aorta
34	chr2:55325000-55326600	Weak transcription	Fetal Stomach	stomach
35	chr2:55325200-55326600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:55325200-55326600	Weak transcription	Fetal Thymus	thymus
37	chr2:55325200-55326600	Weak transcription	Left Ventricle	heart
38	chr2:55325200-55326600	Weak transcription	Ovary	ovary
39	chr2:55325200-55326600	Weak transcription	Pancreas	Pancrea
40	chr2:55325200-55326600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:55325200-55326800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:55325200-55326800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:55325200-55326800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:55325200-55327000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:55325200-55327000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:55325200-55327200	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:55325200-55327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:55325200-55327400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:55325200-55340400	Weak transcription	Gastric	stomach
50	chr2:55325400-55326600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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