Variant report

Variant	rs17324684
Chromosome Location	chr12:20556477-20556478
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	chr12:20555097..20557105-chr12:20561308..20563453,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17325011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17377472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120759	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7136586	0.96[EUR][1000 genomes]
rs73235861	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
2	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
3	chr12:20549400-20557800	Weak transcription	Right Ventricle	heart
4	chr12:20550400-20568200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:20553200-20571200	Weak transcription	Psoas Muscle	Psoas
6	chr12:20554000-20557400	Genic enhancers	Hela-S3	cervix
7	chr12:20555000-20556600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:20555400-20557800	Weak transcription	Fetal Intestine Small	intestine
9	chr12:20555600-20557600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:20555600-20557600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:20555600-20558400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:20555600-20559000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:20555800-20556600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:20555800-20556600	Enhancers	Colon Smooth Muscle	Colon
15	chr12:20555800-20556800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:20555800-20557400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:20555800-20557800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:20555800-20559000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:20556000-20556600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:20556000-20556600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:20556000-20556600	Enhancers	Fetal Intestine Large	intestine
22	chr12:20556000-20556600	Enhancers	Osteobl	bone
23	chr12:20556000-20557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:20556200-20556600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:20556200-20556600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:20556200-20556800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:20556200-20558600	Enhancers	HUVEC	blood vessel
28	chr12:20556200-20559000	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:20556400-20557200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:20556400-20557600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:20556400-20557800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:20556400-20557800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:20556400-20557800	Weak transcription	Fetal Heart	heart
34	chr12:20556400-20558000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:20556400-20562600	Weak transcription	Fetal Kidney	kidney
36	chr12:20556400-20573200	Weak transcription	Rectal Smooth Muscle	rectum

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