Variant report

Variant	rs12600386
Chromosome Location	chr17:17571742-17571743
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	chr17:17571014..17573975-chr17:17596687..17598856,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12601751	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12603026	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12603069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12603397	1.00[EUR][1000 genomes]
rs56038611	0.91[ASN][1000 genomes]
rs58667361	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73290159	0.91[ASN][1000 genomes]
rs73295697	1.00[EUR][1000 genomes]
rs73300562	1.00[EUR][1000 genomes]
rs9891823	1.00[CHB][hapmap]
rs9897150	0.89[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12600386	JARID2	trans	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17566600-17572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:17567000-17572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:17567000-17572200	Weak transcription	Fetal Brain Female	brain
4	chr17:17567000-17572200	Weak transcription	Fetal Heart	heart
5	chr17:17567000-17572200	Weak transcription	Gastric	stomach
6	chr17:17567000-17572400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:17567000-17573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:17567200-17572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:17567200-17572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:17567200-17572200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:17567200-17572400	Weak transcription	Fetal Brain Male	brain
12	chr17:17567200-17572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:17567200-17572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:17567200-17574400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:17567200-17575400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:17567200-17579200	Weak transcription	K562	blood
17	chr17:17567400-17572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17567400-17575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:17568200-17573800	Weak transcription	Left Ventricle	heart
20	chr17:17568200-17576200	Weak transcription	Spleen	Spleen
21	chr17:17568800-17571800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:17568800-17572000	Enhancers	NHEK	skin
23	chr17:17568800-17574000	Enhancers	Fetal Thymus	thymus
24	chr17:17569000-17575600	Weak transcription	GM12878-XiMat	blood
25	chr17:17569400-17572600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:17569400-17572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:17569400-17572800	Enhancers	HMEC	breast
28	chr17:17570000-17572200	Weak transcription	NH-A	brain
29	chr17:17570000-17576000	Weak transcription	Right Ventricle	heart
30	chr17:17570200-17572200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:17570200-17575600	Weak transcription	Hela-S3	cervix
32	chr17:17570400-17572000	Weak transcription	HSMMtube	muscle
33	chr17:17570600-17572000	Weak transcription	HSMM	muscle
34	chr17:17570800-17572600	Weak transcription	Pancreas	Pancrea
35	chr17:17570800-17572600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr17:17570800-17574000	Enhancers	HepG2	liver
37	chr17:17570800-17574600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:17571000-17575600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:17571200-17572600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr17:17571400-17571800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:17571400-17573000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:17571400-17574400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr17:17571600-17571800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:17571600-17571800	Enhancers	Colonic Mucosa	Colon
45	chr17:17571600-17572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:17571600-17573800	Enhancers	Thymus	Thymus

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