Variant report

Variant	rs844851
Chromosome Location	chr20:23095097-23095098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23094897..23098917-chr20:23130908..23134771,6	K562	blood:
2	chr20:23095049..23097345-chr20:23329449..23331996,2	K562	blood:
3	chr20:23092388..23096498-chr20:23127168..23130418,4	K562	blood:
4	chr20:23093195..23094992-chr20:23095074..23097228,2	MCF-7	breast:
5	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
6	chr20:23092796..23095143-chr20:23110138..23112682,3	K562	blood:
7	chr20:23094758..23097530-chr20:23123211..23126141,2	K562	blood:

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1338945	0.94[ASW][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs17756373	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34151880	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34290000	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4446126	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048548	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6048549	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6076024	0.84[EUR][1000 genomes]
rs6076025	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076026	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6076027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6076030	0.85[CEU][hapmap]
rs6083006	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699794	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699795	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844814	0.90[ASN][1000 genomes]
rs844815	0.92[ASN][1000 genomes]
rs844816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844817	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844821	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844822	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844823	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844825	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844827	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844828	0.93[ASN][1000 genomes]
rs844829	0.93[ASN][1000 genomes]
rs844830	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844831	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844846	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs844850	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844852	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs844856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844861	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844862	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844863	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844864	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844874	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs844877	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844851	CST9	cis	cerebellum	SCAN
rs844851	NUDT22	trans	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23088000-23100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr20:23088200-23096800	Weak transcription	Esophagus	oesophagus
4	chr20:23091200-23100600	Enhancers	Dnd41	blood
5	chr20:23092400-23099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:23092800-23097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr20:23093000-23103200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr20:23093200-23095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:23093200-23096800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:23093200-23099000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:23093400-23095200	Enhancers	K562	blood
12	chr20:23093400-23095400	Enhancers	Spleen	Spleen
13	chr20:23093600-23095600	Enhancers	Adipose Nuclei	Adipose
14	chr20:23093800-23095200	Enhancers	Fetal Stomach	stomach
15	chr20:23093800-23096200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:23093800-23097000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr20:23094000-23095600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr20:23094000-23095800	Enhancers	Fetal Muscle Leg	muscle
19	chr20:23094200-23095800	Enhancers	Fetal Muscle Trunk	muscle
20	chr20:23094200-23096000	Enhancers	Primary hematopoietic stem cells	blood
21	chr20:23094400-23095200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:23094400-23095600	Enhancers	Left Ventricle	heart
23	chr20:23094600-23096800	Weak transcription	Primary B cells from cord blood	blood
24	chr20:23094600-23097800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr20:23094800-23095200	Enhancers	Right Atrium	heart
26	chr20:23094800-23095400	Enhancers	Lung	lung
27	chr20:23094800-23095400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr20:23094800-23096600	Enhancers	GM12878-XiMat	blood
29	chr20:23095000-23095200	Enhancers	Brain Hippocampus Middle	brain
30	chr20:23095000-23095200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr20:23095000-23095400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr20:23095000-23095600	Enhancers	Brain Anterior Caudate	brain
33	chr20:23095000-23096000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links