Variant report

Variant	rs72803543
Chromosome Location	chr2:55791212-55791213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55782828..55785578-chr2:55789792..55791305,2	MCF-7	breast:
2	chr2:55784657..55786686-chr2:55790536..55792800,2	K562	blood:
3	chr2:55789957..55792469-chr2:55792753..55795945,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212175	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10496048	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17278009	0.81[AMR][1000 genomes]
rs17792577	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4643582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60356354	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72801530	0.87[AMR][1000 genomes]
rs72801531	0.87[AMR][1000 genomes]
rs72801560	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801562	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801566	0.81[EUR][1000 genomes]
rs72801568	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801571	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801572	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801575	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801577	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801580	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801581	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801584	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801592	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801594	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801601	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803508	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803511	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803513	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803515	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803520	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803525	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803527	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803529	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803530	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803536	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72803541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803566	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72803573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803586	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803588	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803591	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803595	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72805406	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72805414	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
2	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55769600-55816000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55770400-55818200	Weak transcription	Small Intestine	intestine
5	chr2:55770600-55821600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:55770800-55815800	Strong transcription	Liver	Liver
7	chr2:55775200-55798000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr2:55779400-55792200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:55779400-55793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:55779400-55795000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:55779400-55798200	Strong transcription	Placenta	Placenta
12	chr2:55779400-55801400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:55779600-55793400	Strong transcription	Adipose Nuclei	Adipose
14	chr2:55779600-55797400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:55779600-55816200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:55780000-55791600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:55780000-55792200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:55780000-55792600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:55780000-55801400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:55780200-55792200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:55781000-55792000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:55781200-55792000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:55781200-55794200	Strong transcription	Fetal Lung	lung
25	chr2:55781600-55808800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:55782200-55797400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:55783000-55791800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr2:55783400-55792000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:55783800-55797000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:55784000-55792400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:55784200-55792200	Strong transcription	Fetal Intestine Large	intestine
32	chr2:55784200-55795400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:55785000-55805000	Weak transcription	NHEK	skin
34	chr2:55786400-55792000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:55786600-55791400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:55786600-55791400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr2:55787400-55791800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr2:55787800-55797400	Weak transcription	Brain Angular Gyrus	brain
39	chr2:55788000-55791600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr2:55788000-55792200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:55788000-55792200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:55788200-55796200	Strong transcription	HSMM	muscle
43	chr2:55788400-55791600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:55788400-55792200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:55788400-55793800	Weak transcription	Aorta	Aorta
46	chr2:55788400-55795200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:55788600-55792000	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:55788600-55792000	Strong transcription	HepG2	liver
49	chr2:55788600-55816600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:55788800-55791600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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