Variant report

Variant	rs17558692
Chromosome Location	chr12:39806736-39806737
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39804413..39806857-chr12:39807005..39809707,2	K562	blood:
2	chr12:39806434..39808790-chr12:39833185..39835249,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17486018	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17557852	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558706	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931050	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931054	1.00[AFR][1000 genomes]
rs61937873	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937874	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3350014	chr12:39806643-39807047	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
3	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
4	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:39797600-39812000	Weak transcription	HMEC	breast
6	chr12:39798200-39807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:39798200-39809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:39800800-39807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:39800800-39807400	Weak transcription	GM12878-XiMat	blood
10	chr12:39800800-39807800	Weak transcription	Ovary	ovary
11	chr12:39800800-39812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:39800800-39814800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:39801000-39807200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:39801000-39808000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:39801000-39815800	Weak transcription	Psoas Muscle	Psoas
16	chr12:39801200-39808200	Weak transcription	A549	lung
17	chr12:39801400-39807000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:39801400-39807400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:39801600-39811000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:39802000-39811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:39802400-39809200	Weak transcription	Left Ventricle	heart
22	chr12:39802400-39816000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:39802800-39806800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:39803400-39807200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:39804000-39808200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:39804000-39811800	Weak transcription	Adipose Nuclei	Adipose
27	chr12:39804400-39809000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:39805000-39807200	Weak transcription	Fetal Stomach	stomach
29	chr12:39805000-39807800	Weak transcription	Fetal Heart	heart
30	chr12:39805200-39807400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:39805200-39811800	Weak transcription	HepG2	liver
32	chr12:39805400-39807400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr12:39806000-39808000	Weak transcription	Fetal Intestine Small	intestine
34	chr12:39806200-39806800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:39806400-39807600	Weak transcription	Fetal Brain Female	brain
36	chr12:39806400-39808000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:39806400-39808000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:39806400-39809200	Weak transcription	Placenta	Placenta
39	chr12:39806400-39809400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:39806400-39809600	Weak transcription	Liver	Liver
41	chr12:39806400-39813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:39806600-39807200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr12:39806600-39811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix

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