Variant report

Variant	rs2582533
Chromosome Location	chr14:105398787-105398788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105393329..105396153-chr14:105398779..105401055,3	MCF-7	breast:
2	chr14:105397847..105399946-chr14:105442912..105445708,2	MCF-7	breast:
3	chr14:105398736..105403202-chr14:105431579..105436953,6	MCF-7	breast:
4	chr14:105397107..105399280-chr14:105419920..105422847,2	MCF-7	breast:
5	chr14:105331442..105333912-chr14:105397463..105399152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185567	Chromatin interaction
ENSG00000099814	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10083374	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10083490	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10083496	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10141053	0.83[EUR][1000 genomes]
rs10145032	0.89[EUR][1000 genomes]
rs10149193	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10152073	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1036713	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438246	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10438247	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1048257	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11160825	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623422	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850949	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11851053	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12885004	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2582529	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2582531	0.89[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819419	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2819422	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2819424	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2819439	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819468	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2819469	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28380382	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841268	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2841269	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2841276	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2841277	0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2841278	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2841280	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2841281	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28454709	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28600075	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919624	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3001424	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3742935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4264326	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4465542	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55797226	0.89[EUR][1000 genomes]
rs61421370	0.84[EUR][1000 genomes]
rs61996025	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72702027	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs874753	0.82[EUR][1000 genomes]
rs879448	0.83[EUR][1000 genomes]
rs9671643	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9672139	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105394200-105398800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:105394200-105399000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:105394200-105399200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:105394400-105399000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr14:105394400-105399000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:105394400-105399000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:105395000-105398800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr14:105395800-105399200	Weak transcription	Esophagus	oesophagus
9	chr14:105396000-105399000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:105396400-105398800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr14:105396800-105399000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:105397000-105399000	Bivalent Enhancer	Placenta	Placenta
13	chr14:105397600-105399000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:105397600-105399200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:105397800-105398800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:105397800-105399000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:105397800-105399800	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:105398000-105398800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr14:105398200-105399000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr14:105398200-105399000	Bivalent Enhancer	Left Ventricle	heart
21	chr14:105398200-105399200	Enhancers	Pancreas	Pancrea
22	chr14:105398200-105399600	Bivalent Enhancer	Fetal Brain Male	brain
23	chr14:105398200-105399600	Enhancers	Spleen	Spleen
24	chr14:105398200-105399800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr14:105398200-105399800	Enhancers	Fetal Heart	heart
26	chr14:105398400-105398800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:105398400-105398800	Active TSS	Brain Hippocampus Middle	brain
28	chr14:105398400-105398800	Bivalent Enhancer	Fetal Brain Female	brain
29	chr14:105398400-105398800	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr14:105398400-105399000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr14:105398400-105399000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:105398400-105399000	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr14:105398400-105399200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr14:105398400-105399200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:105398400-105399200	Flanking Active TSS	Right Ventricle	heart
36	chr14:105398400-105399400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:105398400-105399400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
38	chr14:105398400-105399400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr14:105398400-105399600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr14:105398400-105399800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:105398400-105399800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:105398400-105399800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr14:105398400-105399800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105398400-105400000	Bivalent/Poised TSS	Osteobl	bone
45	chr14:105398400-105400800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:105398600-105398800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:105398600-105398800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:105398600-105398800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr14:105398600-105398800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:105398600-105398800	Enhancers	Adipose Nuclei	Adipose

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