Variant report

Variant	rs61749865
Chromosome Location	chr17:19835112-19835113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19834831..19836752-chr17:19879517..19881756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10459970	0.83[EUR][1000 genomes]
rs16960554	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008758	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2385960	0.83[EUR][1000 genomes]
rs56153261	0.91[EUR][1000 genomes]
rs57040439	0.83[EUR][1000 genomes]
rs57673732	0.83[EUR][1000 genomes]
rs58313980	0.83[EUR][1000 genomes]
rs59890010	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73296067	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73980762	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73984559	0.83[EUR][1000 genomes]
rs8073875	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active 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
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61749865	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19802800-19844400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:19802800-19846400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:19802800-19852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr17:19803000-19851800	Strong transcription	Fetal Thymus	thymus
5	chr17:19803200-19840800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:19803600-19845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:19803600-19848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:19804000-19844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:19804000-19853000	Strong transcription	Dnd41	blood
10	chr17:19806200-19844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:19806200-19844600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr17:19806400-19846200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr17:19807800-19843800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:19809400-19837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:19810200-19836600	Weak transcription	Fetal Heart	heart
16	chr17:19812200-19845400	Strong transcription	Liver	Liver
17	chr17:19815000-19838600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:19816800-19844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:19817800-19844200	Weak transcription	Stomach Mucosa	stomach
20	chr17:19818200-19836400	Strong transcription	A549	lung
21	chr17:19818600-19839400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:19819600-19844600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:19821000-19838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:19821000-19842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:19823400-19837600	Weak transcription	Psoas Muscle	Psoas
26	chr17:19823600-19836600	Weak transcription	HMEC	breast
27	chr17:19824400-19840200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:19824800-19840400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:19824800-19844200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:19824800-19845800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:19825000-19843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:19825000-19845200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:19825200-19835600	Strong transcription	Primary T cells from cord blood	blood
34	chr17:19825200-19835600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:19825200-19848400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:19825200-19851800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:19826400-19840400	Strong transcription	Fetal Lung	lung
38	chr17:19826600-19840800	Strong transcription	Primary B cells from cord blood	blood
39	chr17:19827200-19836000	Strong transcription	Placenta	Placenta
40	chr17:19827600-19851600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr17:19827600-19852800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr17:19828200-19835200	Weak transcription	Fetal Kidney	kidney
43	chr17:19828200-19837800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr17:19828400-19836400	Weak transcription	Right Ventricle	heart
45	chr17:19828400-19838000	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:19828400-19838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:19828800-19839400	Weak transcription	K562	blood
48	chr17:19829200-19835600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:19829800-19836000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:19829800-19836000	Strong transcription	Fetal Muscle Leg	muscle

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