Variant report

Variant	rs17481696
Chromosome Location	chr15:49938751-49938752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49936169..49939153-chr15:49946646..49948297,2	K562	blood:
2	chr15:49934440..49937340-chr15:49937772..49940035,3	MCF-7	breast:
3	chr15:49936739..49939305-chr15:49942523..49945381,3	K562	blood:
4	chr15:49914708..49917210-chr15:49937827..49939413,2	MCF-7	breast:
5	chr15:49928084..49930382-chr15:49935420..49939202,4	K562	blood:

Variant related genes	Relation type
ENSG00000261597	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10519233	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070707	0.86[CEU][hapmap]
rs12901416	0.84[CEU][hapmap]
rs12902107	0.84[CEU][hapmap]
rs12902794	0.84[CEU][hapmap]
rs13329455	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354918	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546424	0.84[CEU][hapmap]
rs1546425	0.82[CEU][hapmap]
rs1588127	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402569	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17404262	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480434	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483139	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413963	0.86[CEU][hapmap]
rs28393768	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28408092	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28409376	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28430272	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28465200	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28484276	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28492008	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28516445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28568399	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635979	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28669217	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28671247	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28798135	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28843724	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3210227	0.90[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774539	0.84[CEU][hapmap]
rs8040436	0.86[CEU][hapmap]
rs8040716	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs967892	0.86[CEU][hapmap]
rs967893	0.86[CEU][hapmap]
rs9920033	1.00[YRI][hapmap]
rs9920574	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49918000-49938800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:49918200-49942200	Weak transcription	GM12878-XiMat	blood
3	chr15:49918600-49938800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:49919800-49940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:49920000-49940400	Weak transcription	A549	lung
6	chr15:49920800-49940000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:49927000-49940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:49927600-49938800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:49928000-49940200	Weak transcription	Fetal Intestine Small	intestine
10	chr15:49928200-49939600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:49928200-49940400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:49928200-49940600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:49928200-49943000	Weak transcription	Lung	lung
14	chr15:49928400-49939800	Weak transcription	HUVEC	blood vessel
15	chr15:49929000-49938800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:49930400-49939200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:49932400-49939200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:49935600-49938800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:49935600-49939000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:49935600-49939000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:49936000-49939800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:49936200-49939000	Strong transcription	Primary T cells from cord blood	blood
23	chr15:49936200-49939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:49936400-49938800	Enhancers	Hela-S3	cervix
25	chr15:49936600-49938800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:49936600-49938800	Enhancers	Brain Hippocampus Middle	brain
27	chr15:49936600-49938800	Enhancers	Colon Smooth Muscle	Colon
28	chr15:49936600-49938800	Genic enhancers	Rectal Smooth Muscle	rectum
29	chr15:49936600-49940400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:49936800-49939000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:49936800-49940600	Weak transcription	Fetal Thymus	thymus
32	chr15:49937000-49938800	Weak transcription	Aorta	Aorta
33	chr15:49937000-49939000	Enhancers	Osteobl	bone
34	chr15:49937000-49939600	Weak transcription	K562	blood
35	chr15:49937000-49939800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:49937000-49939800	Weak transcription	Fetal Intestine Large	intestine
37	chr15:49937000-49940000	Weak transcription	Small Intestine	intestine
38	chr15:49937000-49941000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:49937000-49941400	Weak transcription	Brain Germinal Matrix	brain
40	chr15:49937200-49939200	Weak transcription	Primary B cells from cord blood	blood
41	chr15:49937200-49939400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:49937200-49939600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:49937200-49940200	Weak transcription	Dnd41	blood
44	chr15:49937400-49940400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr15:49937400-49940600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:49937400-49942200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr15:49937600-49938800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:49937600-49939200	Enhancers	HMEC	breast
49	chr15:49937800-49938800	Enhancers	Fetal Stomach	stomach
50	chr15:49938000-49938800	Genic enhancers	Brain Inferior Temporal Lobe	brain

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