Variant report

Variant	rs454647
Chromosome Location	chr1:214857289-214857290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214848173..214850892-chr1:214855334..214857551,2	K562	blood:
2	chr1:214848173..214850892-chr1:214853976..214857551,3	K562	blood:
3	chr1:214850136..214853701-chr1:214856174..214859270,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1397625	0.92[ASN][1000 genomes]
rs1705488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335562	0.92[ASN][1000 genomes]
rs335564	0.92[ASN][1000 genomes]
rs335570	0.92[ASN][1000 genomes]
rs335573	0.92[ASN][1000 genomes]
rs335574	0.92[ASN][1000 genomes]
rs335575	0.92[ASN][1000 genomes]
rs335576	0.92[ASN][1000 genomes]
rs335577	0.89[ASN][1000 genomes]
rs368798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374482	0.96[ASN][1000 genomes]
rs377272	0.89[ASN][1000 genomes]
rs387275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420942	0.92[ASN][1000 genomes]
rs430311	1.00[ASN][1000 genomes]
rs436869	1.00[ASN][1000 genomes]
rs437155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445453	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449916	1.00[ASN][1000 genomes]
rs4655362	0.92[ASN][1000 genomes]
rs6662756	0.92[ASN][1000 genomes]
rs73083660	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873165	chr1:214802299-214889859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:214856800-214858000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:214856800-214858200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:214856800-214858600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:214856800-214858600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:214856800-214858800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:214856800-214859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:214857000-214857400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:214857000-214857400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:214857000-214857600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:214857000-214857800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:214857000-214857800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:214857000-214857800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:214857000-214857800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:214857000-214858200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:214857000-214858200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:214857000-214858400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:214857000-214858600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:214857000-214859400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:214857200-214857400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:214857200-214857600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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