Variant report

Variant	rs883193
Chromosome Location	chr6:44310691-44310692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44225090..44228269-chr6:44308012..44310883,3	K562	blood:
2	chr6:44279584..44282464-chr6:44309477..44312125,3	K562	blood:
3	chr6:44213758..44215428-chr6:44309293..44311081,2	K562	blood:
4	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000146232	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10948134	0.89[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs11755211	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13214191	0.84[CEU][hapmap]
rs13220856	0.91[EUR][1000 genomes]
rs1571774	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609726	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16871772	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1971329	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2221224	0.89[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2396239	0.90[EUR][1000 genomes]
rs4711780	1.00[CEU][hapmap]
rs4714782	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs4714783	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4714784	0.89[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4714785	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs6911823	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs6935417	0.90[EUR][1000 genomes]
rs7738562	0.91[EUR][1000 genomes]
rs7760813	0.93[EUR][1000 genomes]
rs7772720	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs883194	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349282	0.97[EUR][1000 genomes]
rs9381313	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9472263	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs950230	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs883193	CD2AP	cis	cerebellum	SCAN
rs883193	MRPL14	cis	parietal	SCAN
rs883193	RRP36	cis	cerebellum	SCAN
rs883193	CDK5R1	trans	lymphoblastoid	seeQTL
rs883193	PEX6	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44309800-44310800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:44309800-44310800	Enhancers	Liver	Liver
3	chr6:44309800-44310800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr6:44310000-44310800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:44310000-44310800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr6:44310000-44310800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:44310000-44311000	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr6:44310200-44310800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:44310200-44310800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr6:44310200-44310800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr6:44310200-44310800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr6:44310200-44310800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr6:44310200-44310800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:44310200-44310800	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr6:44310200-44310800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr6:44310200-44310800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr6:44310200-44310800	Enhancers	Pancreas	Pancrea
18	chr6:44310200-44311000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr6:44310200-44311000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr6:44310200-44311000	Bivalent Enhancer	Fetal Brain Male	brain
21	chr6:44310400-44310800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
22	chr6:44310400-44310800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr6:44310400-44310800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:44310400-44310800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:44310400-44310800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr6:44310600-44310800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:44310600-44310800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:44310600-44310800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:44310600-44310800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:44310600-44310800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:44310600-44310800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:44310600-44310800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:44310600-44310800	Enhancers	Ovary	ovary
34	chr6:44310600-44310800	Enhancers	Right Ventricle	heart
35	chr6:44310600-44310800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr6:44310600-44310800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr6:44310600-44310800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr6:44310600-44310800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr6:44310600-44310800	Bivalent Enhancer	HMEC	breast
40	chr6:44310600-44311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:44310600-44311000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:44310600-44311000	Bivalent Enhancer	Brain Angular Gyrus	brain
43	chr6:44310600-44311000	Bivalent Enhancer	Placenta	Placenta
44	chr6:44310600-44311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:44310600-44317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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