Variant report

Variant	rs17751021
Chromosome Location	chr19:19391045-19391046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19378511..19382101-chr19:19389076..19392249,3	K562	blood:
2	chr19:19390164..19392097-chr19:19394063..19396339,2	MCF-7	breast:
3	chr19:19384577..19386203-chr19:19388312..19391208,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10403859	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10406659	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs10411761	1.00[CEU][hapmap]
rs10424369	1.00[CEU][hapmap]
rs11668677	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11668749	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669578	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671506	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671527	1.00[CEU][hapmap]
rs11672216	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12974359	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981966	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13345554	1.00[CEU][hapmap]
rs17683766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752201	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74182629	0.91[ASN][1000 genomes]
rs74182631	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active 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	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17751021	KIAA0892	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
2	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
4	chr19:19384800-19394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:19384800-19403200	Weak transcription	HUVEC	blood vessel
6	chr19:19385200-19396400	Weak transcription	NHDF-Ad	bronchial
7	chr19:19385200-19403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:19385400-19393000	Strong transcription	Brain Germinal Matrix	brain
9	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:19385600-19391200	Strong transcription	Brain Anterior Caudate	brain
12	chr19:19385600-19392800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:19385600-19392800	Strong transcription	Brain Cingulate Gyrus	brain
14	chr19:19385600-19393400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:19385600-19395000	Strong transcription	Right Ventricle	heart
16	chr19:19385600-19396400	Strong transcription	Thymus	Thymus
17	chr19:19385600-19401200	Strong transcription	Primary T cells from cord blood	blood
18	chr19:19385600-19401600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:19385600-19403200	Strong transcription	Fetal Stomach	stomach
20	chr19:19385600-19403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:19385600-19410000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr19:19385800-19391200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:19385800-19392200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:19385800-19392600	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr19:19385800-19395200	Strong transcription	Esophagus	oesophagus
26	chr19:19385800-19398200	Strong transcription	Left Ventricle	heart
27	chr19:19385800-19398600	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:19385800-19399200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:19385800-19401200	Strong transcription	Adipose Nuclei	Adipose
30	chr19:19385800-19402200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:19385800-19402400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:19385800-19403200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19385800-19409600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:19385800-19410000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr19:19386000-19392800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:19386000-19392800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:19386000-19401200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:19386000-19401200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr19:19386000-19415200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:19386200-19392600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:19386200-19392600	Strong transcription	Aorta	Aorta
42	chr19:19386200-19392600	Strong transcription	Pancreas	Pancrea
43	chr19:19386200-19392800	Strong transcription	Gastric	stomach
44	chr19:19386200-19392800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:19386200-19393800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:19386200-19395800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr19:19386200-19401200	Strong transcription	Fetal Thymus	thymus
48	chr19:19386200-19401400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:19386200-19408200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:19386200-19421000	Weak transcription	Stomach Mucosa	stomach

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