Variant report

Variant	rs12530015
Chromosome Location	chr6:15171592-15171593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15169846..15172434-chr6:15181628..15183305,2	K562	blood:
2	chr6:15170363..15172939-chr6:15173815..15175611,2	K562	blood:
3	chr6:15159244..15161840-chr6:15169740..15172475,3	K562	blood:
4	chr6:15168254..15169960-chr6:15170062..15172300,2	K562	blood:
5	chr6:15169846..15172117-chr6:15181369..15183305,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11968994	1.00[ASN][1000 genomes]
rs12524357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524540	1.00[ASN][1000 genomes]
rs12525768	0.81[AMR][1000 genomes]
rs12526221	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527270	1.00[ASN][1000 genomes]
rs12527312	1.00[ASN][1000 genomes]
rs12528518	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529010	1.00[ASN][1000 genomes]
rs12529719	1.00[ASN][1000 genomes]
rs12530231	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13193188	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13193311	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13204596	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13213362	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13220124	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16876112	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326651	1.00[ASN][1000 genomes]
rs34766885	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35003605	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57013338	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59109859	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61136001	1.00[ASN][1000 genomes]
rs61271709	1.00[ASN][1000 genomes]
rs6904999	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6926190	1.00[ASN][1000 genomes]
rs73357717	1.00[ASN][1000 genomes]
rs73357719	1.00[ASN][1000 genomes]
rs73357720	1.00[ASN][1000 genomes]
rs73357732	1.00[ASN][1000 genomes]
rs73359689	1.00[ASN][1000 genomes]
rs73371691	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73373454	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375522	1.00[ASN][1000 genomes]
rs73375538	1.00[ASN][1000 genomes]
rs7746089	1.00[ASN][1000 genomes]
rs9464756	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464758	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9464759	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9464760	1.00[ASN][1000 genomes]
rs9464772	1.00[ASN][1000 genomes]
rs9464775	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9476767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476773	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9476774	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9476777	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9476778	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9476802	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9718146	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830593	chr6:15049636-15244190	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15170000-15172200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:15170000-15172200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:15170000-15172200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:15170000-15172200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:15170000-15172400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:15170200-15171600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:15170200-15171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:15170200-15172200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:15170200-15172200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:15170200-15172200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:15170200-15172200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:15170200-15172200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:15170400-15171800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:15170400-15172200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:15170400-15172200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:15170600-15172000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:15170800-15171600	Enhancers	GM12878-XiMat	blood
18	chr6:15170800-15171800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:15170800-15171800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:15171400-15172200	Enhancers	Brain Germinal Matrix	brain
21	chr6:15171400-15177200	Weak transcription	H9 Cell Line	embryonic stem cell

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