Variant report

Variant	rs551034
Chromosome Location	chr13:48733226-48733227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48730879..48733755-chr13:48736482..48738295,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11839064	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1359861	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17071466	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1752134	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1854177	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2406803	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765076	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35537731	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3890027	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4500616	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942755	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942756	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942758	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56762281	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs637390	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637831	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318104	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7322824	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73485008	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7981621	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7982500	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7984127	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7987321	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7988173	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7994451	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7998964	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8000847	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526458	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526459	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534981	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534986	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534995	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs956169	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9591144	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9591146	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9595871	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.88[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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:48726400-48733600	Weak transcription	Esophagus	oesophagus
3	chr13:48726400-48735400	Weak transcription	Lung	lung
4	chr13:48728600-48733600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:48728600-48735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:48729400-48734000	Enhancers	Fetal Thymus	thymus
7	chr13:48730400-48733400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:48730400-48735400	Enhancers	Primary B cells from cord blood	blood
9	chr13:48730600-48733400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:48730600-48733600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:48730800-48733600	Weak transcription	Small Intestine	intestine
12	chr13:48730800-48734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:48730800-48734600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:48730800-48734800	Weak transcription	K562	blood
15	chr13:48730800-48735400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:48731000-48733400	Weak transcription	NH-A	brain
17	chr13:48731000-48733800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr13:48731000-48733800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:48731000-48734000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr13:48731000-48734200	Weak transcription	HUVEC	blood vessel
21	chr13:48731000-48734800	Weak transcription	Brain Anterior Caudate	brain
22	chr13:48731000-48734800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:48731000-48735800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:48731200-48733800	Enhancers	Dnd41	blood
25	chr13:48731200-48734000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:48731200-48734000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr13:48731200-48735800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr13:48731600-48733400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:48731600-48734000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:48732000-48734000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr13:48732000-48734200	Enhancers	Stomach Mucosa	stomach
32	chr13:48732000-48735200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:48732000-48735800	Enhancers	Placenta	Placenta
34	chr13:48732200-48733400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:48732200-48733600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:48732200-48733800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:48732200-48734200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr13:48732200-48735400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr13:48732200-48735800	Enhancers	HMEC	breast
40	chr13:48732400-48733400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr13:48732400-48733400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr13:48732400-48733400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr13:48732400-48733400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:48732400-48733600	Enhancers	Primary T cells from cord blood	blood
45	chr13:48732400-48733800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr13:48732400-48734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr13:48732400-48734000	Enhancers	Thymus	Thymus
48	chr13:48732400-48734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:48732400-48735000	Enhancers	Fetal Kidney	kidney
50	chr13:48732400-48735800	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links