Variant report

Variant	rs17486018
Chromosome Location	chr12:39767688-39767689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39764517..39769063-chr12:39834166..39838574,6	K562	blood:
2	chr12:39762097..39763744-chr12:39766808..39769516,2	MCF-7	breast:
3	chr12:39766807..39768997-chr12:39769052..39771333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139116	Chromatin interaction
ENSG00000252974	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17557852	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558692	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]
rs17558706	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931050	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931054	1.00[AFR][1000 genomes]
rs61937873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937874	0.97[AMR][1000 genomes];1.00[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	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
2	chr12:39721000-39770600	Weak transcription	Gastric	stomach
3	chr12:39727000-39779200	Weak transcription	Aorta	Aorta
4	chr12:39745000-39778600	Weak transcription	Pancreas	Pancrea
5	chr12:39751400-39770400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:39751600-39771800	Weak transcription	Brain Anterior Caudate	brain
7	chr12:39752200-39769000	Weak transcription	Ovary	ovary
8	chr12:39752200-39769200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:39757000-39784600	Weak transcription	Brain Germinal Matrix	brain
10	chr12:39758600-39770600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:39761200-39769000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
13	chr12:39762800-39771200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:39763000-39781400	Weak transcription	A549	lung
15	chr12:39763800-39768400	Weak transcription	Fetal Brain Female	brain
16	chr12:39764000-39769200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:39764000-39781000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:39765800-39767800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:39765800-39772200	Weak transcription	Left Ventricle	heart
20	chr12:39766200-39767800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:39766200-39768200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:39766400-39767800	Enhancers	Fetal Heart	heart
23	chr12:39766600-39767800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:39766600-39768000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:39766600-39768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:39766600-39769800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:39766800-39767800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:39766800-39767800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:39766800-39767800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:39767000-39767800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:39767200-39767800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:39767400-39770800	Weak transcription	Right Ventricle	heart
33	chr12:39767400-39784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:39767600-39767800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:39767600-39767800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:39767600-39767800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:39767600-39767800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:39767600-39769400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:39767600-39791400	Weak transcription	GM12878-XiMat	blood

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