Variant report

Variant	rs73235147
Chromosome Location	chr3:112973955-112973956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112929933..112932828-chr3:112972160..112974860,2	MCF-7	breast:
2	chr3:112973746..112975579-chr3:112978657..112981572,2	K562	blood:

Variant related genes	Relation type
ENSG00000144857	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10511323	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11710894	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11717833	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11919134	0.84[AMR][1000 genomes]
rs11928342	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12485329	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12492273	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494864	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631733	0.83[EUR][1000 genomes]
rs12638030	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16860758	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860787	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1875111	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2036282	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201971	0.83[AMR][1000 genomes]
rs34284771	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3814398	0.82[EUR][1000 genomes]
rs3846046	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3856718	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3856719	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3856720	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41271357	0.81[AMR][1000 genomes]
rs4682131	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682132	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4682478	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682480	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4682481	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682483	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55814436	0.81[AMR][1000 genomes]
rs73235142	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235143	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235153	0.82[AMR][1000 genomes]
rs7641410	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775222	0.90[AMR][1000 genomes];0.87[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:112968600-112980000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:112969600-112981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112969800-112991800	Weak transcription	Right Ventricle	heart
6	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
7	chr3:112970200-112981000	Weak transcription	Gastric	stomach
8	chr3:112970200-112981000	Weak transcription	Pancreas	Pancrea
9	chr3:112971200-112975400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr3:112971200-112978200	Genic enhancers	Fetal Muscle Leg	muscle
11	chr3:112971400-112974800	Genic enhancers	Fetal Stomach	stomach
12	chr3:112971600-112974200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:112971600-112974600	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:112971800-112986400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:112972000-112980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:112972200-112974200	Enhancers	Fetal Lung	lung
17	chr3:112972200-112974200	Enhancers	Fetal Thymus	thymus
18	chr3:112972200-112974200	Enhancers	Ovary	ovary
19	chr3:112972400-112974000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:112972400-112974000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:112972400-112974200	Enhancers	Fetal Brain Male	brain
22	chr3:112972400-112974400	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:112972400-112974600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr3:112972400-112986400	Weak transcription	Fetal Intestine Small	intestine
25	chr3:112972600-112974000	Enhancers	Fetal Brain Female	brain
26	chr3:112972600-112974200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:112972600-112974200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:112972600-112974200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:112972600-112974200	Enhancers	Brain Cingulate Gyrus	brain
30	chr3:112972600-112974200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr3:112972600-112974400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr3:112972600-112974400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:112972600-112974600	Enhancers	NHDF-Ad	bronchial
34	chr3:112972600-112974800	Enhancers	Brain Hippocampus Middle	brain
35	chr3:112972600-112975200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:112972600-112975600	Enhancers	HSMM	muscle
37	chr3:112972800-112974000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:112972800-112974200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:112972800-112976400	Enhancers	HSMMtube	muscle
40	chr3:112973000-112974000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:112973000-112974200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:112973200-112974000	Enhancers	Brain Angular Gyrus	brain
43	chr3:112973200-112974200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:112973200-112974200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:112973200-112974200	Enhancers	Right Atrium	heart
46	chr3:112973200-112974800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:112973200-112975200	Enhancers	GM12878-XiMat	blood
48	chr3:112973400-112974000	Genic enhancers	Colon Smooth Muscle	Colon
49	chr3:112973400-112974200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:112973400-112974200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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