Variant report

Variant	rs12643823
Chromosome Location	chr4:90845731-90845732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10433954	0.96[ASN][1000 genomes]
rs10433955	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516850	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10516851	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10516852	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516853	0.93[EUR][1000 genomes]
rs11722543	0.86[ASN][1000 genomes]
rs12640573	1.00[ASN][1000 genomes]
rs12640925	0.96[ASN][1000 genomes]
rs12640973	0.96[ASN][1000 genomes]
rs12641781	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12644375	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12646270	0.87[ASN][1000 genomes]
rs1372511	0.87[ASN][1000 genomes]
rs1372512	0.87[ASN][1000 genomes]
rs1442131	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1442132	0.87[ASN][1000 genomes]
rs17016373	0.95[ASN][1000 genomes]
rs17016396	0.81[ASN][1000 genomes]
rs2241884	1.00[ASN][1000 genomes]
rs3775464	0.96[ASN][1000 genomes]
rs3775465	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775466	0.96[ASN][1000 genomes]
rs3775467	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775473	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775474	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775476	0.98[ASN][1000 genomes]
rs3775477	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775478	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56146644	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57175349	0.80[ASN][1000 genomes]
rs57925841	0.87[ASN][1000 genomes]
rs58514521	0.96[ASN][1000 genomes]
rs58930449	0.96[ASN][1000 genomes]
rs59345481	0.92[EUR][1000 genomes]
rs59559279	0.85[ASN][1000 genomes]
rs60847430	0.96[ASN][1000 genomes]
rs60909103	0.93[EUR][1000 genomes]
rs61160271	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61611959	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6532197	0.87[ASN][1000 genomes]
rs6532199	0.87[ASN][1000 genomes]
rs6532200	0.91[ASN][1000 genomes]
rs67212195	0.86[ASN][1000 genomes]
rs6828095	0.87[ASN][1000 genomes]
rs6837483	0.81[ASN][1000 genomes]
rs6838943	0.95[ASN][1000 genomes]
rs6847403	0.87[ASN][1000 genomes]
rs6848022	0.87[ASN][1000 genomes]
rs6857668	0.91[ASN][1000 genomes]
rs6858182	0.94[ASN][1000 genomes]
rs72657800	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72657801	0.96[ASN][1000 genomes]
rs72657802	0.96[ASN][1000 genomes]
rs72659403	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72659404	0.96[ASN][1000 genomes]
rs72659409	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72659413	0.96[ASN][1000 genomes]
rs73831836	0.87[ASN][1000 genomes]
rs73831856	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7657014	0.81[ASN][1000 genomes]
rs7666981	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7673735	0.87[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	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv997700	chr4:90791866-90920021	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830005	chr4:90799398-90963420	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
6	nsv1003903	chr4:90831805-90947922	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90832000-90850400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:90832200-90846800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:90841600-90846800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:90841600-90850000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:90842000-90846800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:90843600-90849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:90844600-90846400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:90844600-90850200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:90845200-90846800	Weak transcription	HUVEC	blood vessel
10	chr4:90845200-90850000	Weak transcription	Brain Germinal Matrix	brain
11	chr4:90845600-90850200	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links