Variant report

Variant	rs8043489
Chromosome Location	chr15:74301585-74301586
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74284526..74286693-chr15:74299037..74301704,2	MCF-7	breast:
2	chr15:74285628..74288607-chr15:74300001..74303311,3	K562	blood:
3	chr15:74283960..74290618-chr15:74296413..74304371,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10162627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052242	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs1052246	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs10851868	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs11072458	0.82[CEU][hapmap]
rs11072461	0.80[AMR][1000 genomes]
rs11072462	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs11072463	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs11072464	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072465	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072466	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072467	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072469	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11633520	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11635930	0.80[AMR][1000 genomes]
rs11636016	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636065	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs11636150	0.82[AMR][1000 genomes]
rs11857498	0.80[AMR][1000 genomes]
rs12592370	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593528	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12901603	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902857	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs12904213	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12908748	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911807	0.80[AMR][1000 genomes]
rs12912395	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12917179	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277599	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs2304715	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304716	0.81[CEU][hapmap]
rs2304717	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304718	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784561	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784562	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4287518	0.82[CEU][hapmap]
rs4886820	0.82[AMR][1000 genomes]
rs4886844	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886845	0.81[AMR][1000 genomes]
rs4886846	0.83[AMR][1000 genomes]
rs56194867	0.80[AMR][1000 genomes]
rs743581	0.80[ASN][1000 genomes]
rs8027327	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs8027447	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs8027774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028557	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8038991	0.80[AMR][1000 genomes]
rs8039276	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:74288200-74303000	Weak transcription	A549	lung
3	chr15:74288200-74303800	Weak transcription	Brain Angular Gyrus	brain
4	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
5	chr15:74289600-74302400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:74289800-74303200	Weak transcription	Brain Substantia Nigra	brain
7	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:74290000-74303400	Weak transcription	Fetal Kidney	kidney
9	chr15:74290000-74314800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:74290800-74301600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:74291000-74311200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:74291000-74314800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:74291000-74315000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:74291000-74315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:74291800-74314800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:74292000-74302400	Strong transcription	Osteobl	bone
17	chr15:74292000-74315200	Weak transcription	Fetal Brain Female	brain
18	chr15:74292000-74329200	Weak transcription	Fetal Brain Male	brain
19	chr15:74293400-74303600	Weak transcription	NH-A	brain
20	chr15:74296600-74315200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:74296800-74315200	Weak transcription	Brain Germinal Matrix	brain
22	chr15:74297000-74302000	Weak transcription	Ovary	ovary
23	chr15:74297000-74315200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:74297000-74315600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:74297800-74301800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr15:74298000-74302400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:74298000-74303800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:74298000-74304200	Enhancers	Right Atrium	heart
29	chr15:74298200-74302200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:74298200-74302400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr15:74298200-74302400	Strong transcription	Fetal Lung	lung
32	chr15:74298200-74303000	Enhancers	Liver	Liver
33	chr15:74298200-74311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:74298400-74302400	Genic enhancers	Fetal Stomach	stomach
35	chr15:74298400-74303000	Weak transcription	HepG2	liver
36	chr15:74299000-74301600	Genic enhancers	Gastric	stomach
37	chr15:74299000-74302400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr15:74299000-74304200	Enhancers	Right Ventricle	heart
39	chr15:74299200-74302000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr15:74299200-74302200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:74299200-74302400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr15:74299200-74303600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:74299200-74315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:74299400-74304000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr15:74299400-74304600	Enhancers	Left Ventricle	heart
46	chr15:74299400-74315400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:74299600-74308200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr15:74299800-74301800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr15:74299800-74302400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:74299800-74303200	Weak transcription	HMEC	breast

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