Variant report

Variant	rs34971853
Chromosome Location	chr2:40480694-40480695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1641452	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1651356	0.87[ASN][1000 genomes]
rs36162999	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36184451	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs366578	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs371909	0.91[ASN][1000 genomes]
rs374159	0.83[ASN][1000 genomes]
rs3749056	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs379859	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs380082	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs383073	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384994	0.83[ASN][1000 genomes]
rs389992	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs391984	0.96[ASN][1000 genomes]
rs394112	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs394540	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs398175	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401815	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs402307	0.83[ASN][1000 genomes]
rs405884	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs406222	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs406736	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs407267	0.83[ASN][1000 genomes]
rs407388	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs415695	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs417464	0.86[ASN][1000 genomes]
rs427632	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs428738	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429227	0.83[ASN][1000 genomes]
rs430394	0.81[ASN][1000 genomes]
rs432142	0.85[EUR][1000 genomes]
rs432769	0.96[ASN][1000 genomes]
rs432981	0.83[ASN][1000 genomes]
rs434082	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs436010	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440155	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs442476	0.83[ASN][1000 genomes]
rs442586	0.91[ASN][1000 genomes]
rs443236	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs450823	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs451158	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs451811	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs452138	0.83[ASN][1000 genomes]
rs479909	0.81[ASN][1000 genomes]
rs4952596	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs505473	0.87[ASN][1000 genomes]
rs588179	0.89[ASN][1000 genomes]
rs615449	0.91[ASN][1000 genomes]
rs666362	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs674128	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs678107	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794789	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873913	chr2:40469705-40485074	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3406907	chr2:40479198-40481346	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv3403296	chr2:40479648-40480896	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:40472600-40487200	Weak transcription	HSMM	muscle
6	chr2:40475800-40485400	Weak transcription	Right Atrium	heart
7	chr2:40478600-40481800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:40478600-40487000	Weak transcription	Hela-S3	cervix
9	chr2:40478800-40481400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:40478800-40482000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:40478800-40482200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:40478800-40496600	Weak transcription	Right Ventricle	heart
13	chr2:40478800-40499600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:40479000-40487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:40479400-40488000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:40479800-40485000	Weak transcription	Left Ventricle	heart
17	chr2:40480600-40483200	Weak transcription	Fetal Heart	heart

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