Variant report

Variant	rs17500871
Chromosome Location	chr12:117217212-117217213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117214324..117217304-chr12:117220516..117222283,2	K562	blood:
2	chr12:117208783..117211588-chr12:117216119..117217810,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16946979	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16947055	1.00[MEX][hapmap]
rs61120684	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300541	1.00[JPT][hapmap]
rs7312638	1.00[JPT][hapmap]
rs7316426	1.00[ASW][hapmap];1.00[MEX][hapmap]

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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17500871	ABI3	trans	brain	seeQTL
rs17500871	DUSP6	trans	lymphoblastoid	seeQTL
rs17500871	IFI30	trans	brain	seeQTL
rs17500871	UCP2	trans	brain	seeQTL
rs17500871	RNASE2	trans	brain	seeQTL
rs17500871	C3AR1	trans	brain	seeQTL
rs17500871	PLEK	trans	brain	seeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
5	chr12:117177400-117225800	Weak transcription	HepG2	liver
6	chr12:117191200-117221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
8	chr12:117198200-117233600	Weak transcription	Fetal Stomach	stomach
9	chr12:117198200-117236600	Weak transcription	A549	lung
10	chr12:117198400-117217600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117198600-117223800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:117198600-117233600	Weak transcription	Right Atrium	heart
13	chr12:117198800-117220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:117209800-117232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:117211800-117218000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:117213400-117226600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:117213800-117223400	Weak transcription	Placenta	Placenta
18	chr12:117215600-117217400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:117215600-117217600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:117215800-117221400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:117216000-117222000	Weak transcription	K562	blood
22	chr12:117216200-117222800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:117216200-117225400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:117216400-117218800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:117216600-117218600	Strong transcription	Fetal Thymus	thymus
26	chr12:117216600-117219600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:117216600-117220600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:117216600-117226800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117216800-117219200	Strong transcription	Brain Hippocampus Middle	brain
30	chr12:117216800-117219400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:117216800-117219800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr12:117216800-117219800	Strong transcription	Dnd41	blood
33	chr12:117216800-117223200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:117216800-117223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:117216800-117223600	Strong transcription	Fetal Brain Female	brain
36	chr12:117216800-117224400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:117216800-117225400	Strong transcription	Brain Germinal Matrix	brain
38	chr12:117216800-117225600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:117216800-117225600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:117216800-117229600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:117217000-117217400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:117217000-117217400	ZNF genes & repeats	Aorta	Aorta
43	chr12:117217000-117218200	Strong transcription	GM12878-XiMat	blood
44	chr12:117217000-117218600	Strong transcription	Primary B cells from cord blood	blood
45	chr12:117217000-117219000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:117217000-117219000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:117217000-117219200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:117217000-117219200	Strong transcription	Brain Angular Gyrus	brain
49	chr12:117217000-117219400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:117217000-117219600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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