Variant report

Variant	rs12979148
Chromosome Location	chr19:19406869-19406870
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	chr19:19406549..19409786-chr19:19410836..19415157,5	K562	blood:
2	chr19:19406475..19408221-chr19:19410645..19412336,2	K562	blood:

Variant related genes	Relation type
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10401969	0.91[AFR][1000 genomes]
rs11668104	0.85[AFR][1000 genomes]
rs12459676	0.89[AFR][1000 genomes]
rs12976025	0.81[AFR][1000 genomes]
rs2023883	0.88[AFR][1000 genomes]
rs2074301	0.80[AFR][1000 genomes]
rs2240117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808194	0.88[AFR][1000 genomes]
rs739846	0.91[AFR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12979148	KIAA0892	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
2	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:19385600-19410000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:19385800-19409600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:19385800-19410000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr19:19386000-19415200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:19386200-19408200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:19386200-19421000	Weak transcription	Stomach Mucosa	stomach
10	chr19:19386800-19428400	Strong transcription	Fetal Intestine Small	intestine
11	chr19:19387000-19408600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:19387200-19408400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:19388000-19429000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19389200-19412800	Weak transcription	HMEC	breast
15	chr19:19389600-19419000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:19390400-19411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:19390400-19412200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
19	chr19:19392200-19407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:19392400-19415000	Weak transcription	Fetal Heart	heart
21	chr19:19392600-19412600	Weak transcription	Fetal Brain Male	brain
22	chr19:19393800-19418600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:19394400-19408600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:19394600-19409800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:19395600-19412800	Weak transcription	NHEK	skin
26	chr19:19397200-19420800	Weak transcription	NHDF-Ad	bronchial
27	chr19:19397400-19407600	Weak transcription	NHLF	lung
28	chr19:19397400-19418600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:19397600-19416400	Weak transcription	Small Intestine	intestine
30	chr19:19398000-19426800	Weak transcription	K562	blood
31	chr19:19398200-19411200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:19398400-19412000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19399000-19407600	Weak transcription	Brain Substantia Nigra	brain
34	chr19:19400400-19408600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:19401200-19411200	Weak transcription	Colonic Mucosa	Colon
36	chr19:19401200-19412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:19401200-19412200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:19401400-19413400	Weak transcription	HepG2	liver
39	chr19:19402400-19427600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:19402400-19427800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:19402600-19427400	Strong transcription	Lung	lung
42	chr19:19402800-19409400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr19:19402800-19410200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:19402800-19427600	Strong transcription	Fetal Intestine Large	intestine
45	chr19:19402800-19428600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:19403000-19408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:19403000-19409600	Strong transcription	Primary T cells from cord blood	blood
48	chr19:19403000-19427800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:19403200-19408000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:19403200-19409000	Strong transcription	H1 Cell Line	embryonic stem cell

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