Variant report

Variant	rs12441486
Chromosome Location	chr15:40268544-40268545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40224751..40226290-chr15:40266670..40268838,2	MCF-7	breast:
2	chr15:40261012..40264755-chr15:40266617..40269067,3	MCF-7	breast:
3	chr15:40211915..40214784-chr15:40267072..40270080,3	MCF-7	breast:
4	chr15:40256702..40259221-chr15:40268261..40271249,2	K562	blood:

Variant related genes	Relation type
ENSG00000166073	Chromatin interaction
ENSG00000246863	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1436276	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1436278	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16970030	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16970033	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16970098	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970132	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2196470	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2307105	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2307106	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2307107	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2640645	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28369403	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28619481	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3765127	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4566130	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs472027	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs503671	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs509200	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs510949	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs514152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs518802	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs536503	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs548091	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7165105	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7170569	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174767	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72729459	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72729462	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72729469	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72729490	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729494	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8029465	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036381	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036388	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9888665	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
4	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:40257200-40272200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:40257400-40268600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:40258200-40268600	Weak transcription	Gastric	stomach
18	chr15:40260200-40268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:40260200-40268600	Weak transcription	Pancreas	Pancrea
20	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:40261000-40268600	Weak transcription	Aorta	Aorta
22	chr15:40261000-40277800	Weak transcription	A549	lung
23	chr15:40262600-40293800	Weak transcription	Stomach Mucosa	stomach
24	chr15:40264200-40268600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:40264400-40268600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr15:40264800-40270400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:40265000-40268600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr15:40265000-40268600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:40265200-40270000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr15:40265400-40268600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:40265400-40269800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:40265400-40269800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:40265600-40271400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr15:40266000-40268800	Strong transcription	Dnd41	blood
35	chr15:40266000-40269200	Strong transcription	Thymus	Thymus
36	chr15:40266200-40268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:40266400-40281800	Weak transcription	K562	blood
38	chr15:40266600-40269600	Enhancers	Fetal Heart	heart
39	chr15:40266600-40278000	Weak transcription	GM12878-XiMat	blood
40	chr15:40267000-40278000	Weak transcription	Hela-S3	cervix
41	chr15:40267200-40269600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:40267400-40268600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:40267600-40269400	Strong transcription	Spleen	Spleen
44	chr15:40267800-40269600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:40267800-40270000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:40267800-40278400	Weak transcription	Primary B cells from cord blood	blood
47	chr15:40268000-40268600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:40268200-40268600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:40268200-40268600	Weak transcription	Primary T cells from cord blood	blood
50	chr15:40268200-40268600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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