Variant report

Variant	rs4328927
Chromosome Location	chr4:130244334-130244335
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130243320..130247146-chr4:130247624..130250769,3	K562	blood:
2	chr4:130242926..130245103-chr4:130250814..130252812,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10002933	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018742	0.92[ASN][1000 genomes]
rs11939768	0.93[ASN][1000 genomes]
rs11939883	0.92[ASN][1000 genomes]
rs28459462	0.85[ASN][1000 genomes]
rs4130024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246722	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246723	0.85[ASN][1000 genomes]
rs4246725	0.93[ASN][1000 genomes]
rs4324562	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4336241	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4348109	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4351033	0.85[ASN][1000 genomes]
rs4356920	0.93[ASN][1000 genomes]
rs4364276	0.84[ASN][1000 genomes]
rs4522874	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525996	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4604071	0.85[ASN][1000 genomes]
rs4608824	0.85[ASN][1000 genomes]
rs4975210	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975211	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975212	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4975213	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975217	0.91[ASN][1000 genomes]
rs5019103	0.83[ASN][1000 genomes]
rs5019104	0.83[ASN][1000 genomes]
rs62317265	0.80[ASN][1000 genomes]
rs6534723	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534724	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534725	0.85[ASN][1000 genomes]
rs6534727	0.80[ASN][1000 genomes]
rs6814634	0.85[ASN][1000 genomes]
rs6818545	0.93[ASN][1000 genomes]
rs6820523	0.88[ASN][1000 genomes]
rs6820852	0.88[ASN][1000 genomes]
rs6821513	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7656960	0.85[ASN][1000 genomes]
rs9994470	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv879932	chr4:130167642-130264517	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130243400-130245400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:130243600-130244400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:130243600-130244400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:130243600-130244600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:130243600-130244800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:130243600-130244800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:130243800-130244400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:130243800-130244400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:130243800-130244600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:130243800-130244600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:130243800-130246800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:130244000-130244600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:130244000-130245400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:130244200-130245200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:130244200-130245200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:130244200-130245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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