Variant report

Variant	rs72948328
Chromosome Location	chr2:111881810-111881811
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111881657..111883208-chr2:111900026..111902115,2	K562	blood:
2	chr2:111881798..111884548-chr3:37284411..37286120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144674	Chromatin interaction
ENSG00000176354	Chromatin interaction
ENSG00000270194	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12613243	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615741	0.80[ASN][1000 genomes]
rs17041868	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289321	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3761706	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3789059	0.84[ASN][1000 genomes]
rs3789066	0.91[ASN][1000 genomes]
rs3789067	0.91[ASN][1000 genomes]
rs61484463	0.83[ASN][1000 genomes]
rs73954922	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73954926	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73954941	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954943	0.85[EUR][1000 genomes];1.00[ASN][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3392605	chr2:111879306-111881854	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881000-111882200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:111881000-111882600	Weak transcription	Aorta	Aorta
3	chr2:111881000-111882600	Weak transcription	Gastric	stomach
4	chr2:111881200-111882200	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr2:111881200-111882400	Weak transcription	Colonic Mucosa	Colon
6	chr2:111881200-111882600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:111881200-111882600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:111881200-111882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:111881200-111882600	Enhancers	Fetal Heart	heart
10	chr2:111881200-111882600	Weak transcription	NH-A	brain
11	chr2:111881200-111882800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:111881200-111882800	Weak transcription	Psoas Muscle	Psoas
13	chr2:111881200-111883400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:111881200-111883600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:111881200-111883800	Weak transcription	NHDF-Ad	bronchial
16	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
17	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
18	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:111881200-111909600	Weak transcription	NHLF	lung
22	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:111881400-111882000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
24	chr2:111881400-111882000	Genic enhancers	Fetal Stomach	stomach
25	chr2:111881400-111882200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:111881400-111882200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:111881400-111882600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:111881400-111883200	Strong transcription	NHEK	skin
29	chr2:111881400-111883400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:111881400-111886400	Weak transcription	Fetal Kidney	kidney
31	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:111881600-111882000	Genic enhancers	Fetal Thymus	thymus
33	chr2:111881600-111882000	Genic enhancers	HSMMtube	muscle
34	chr2:111881600-111882400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:111881600-111882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:111881600-111882400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:111881600-111882400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:111881600-111882400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:111881600-111882600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:111881600-111882600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:111881600-111882600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:111881600-111882600	Strong transcription	Fetal Intestine Large	intestine
43	chr2:111881600-111882600	Weak transcription	Lung	lung
44	chr2:111881600-111882600	Weak transcription	Spleen	Spleen
45	chr2:111881600-111882800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:111881600-111882800	Weak transcription	HSMM	muscle
47	chr2:111881600-111883000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:111881600-111883200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:111881600-111883400	Strong transcription	Esophagus	oesophagus
50	chr2:111881600-111883600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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