Variant report

Variant	rs2836431
Chromosome Location	chr21:39849917-39849918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39844325..39848351-chr21:39848491..39850801,3	MCF-7	breast:
2	chr21:39848201..39851847-chr21:39852141..39856874,4	K562	blood:
3	chr21:39840191..39842812-chr21:39847792..39850262,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17285210	0.94[JPT][hapmap]
rs2410033	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836416	0.81[JPT][hapmap]
rs2836417	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2836433	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836437	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs62219570	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960818	0.88[JPT][hapmap];0.84[ASN][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	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2836431	PSMG1	cis	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39843400-39855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
3	chr21:39846400-39855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:39846400-39855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:39846800-39851400	Enhancers	Thymus	Thymus
6	chr21:39847000-39850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:39847200-39850600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr21:39847200-39850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:39847400-39852400	Enhancers	Left Ventricle	heart
10	chr21:39847600-39851000	Enhancers	Fetal Heart	heart
11	chr21:39847800-39850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:39847800-39850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:39848400-39850600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:39848400-39850600	Enhancers	Spleen	Spleen
15	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:39848600-39851000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr21:39848800-39851000	Enhancers	Adipose Nuclei	Adipose
18	chr21:39849000-39850400	Enhancers	Right Atrium	heart
19	chr21:39849000-39852200	Enhancers	Fetal Thymus	thymus
20	chr21:39849200-39850600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr21:39849200-39851000	Weak transcription	Right Ventricle	heart
22	chr21:39849200-39852800	Enhancers	HMEC	breast
23	chr21:39849400-39850200	Weak transcription	Lung	lung
24	chr21:39849400-39851200	Enhancers	NH-A	brain
25	chr21:39849400-39851400	Enhancers	Osteobl	bone
26	chr21:39849600-39850000	Weak transcription	Aorta	Aorta
27	chr21:39849600-39851200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr21:39849600-39852000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:39849600-39852800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:39849800-39850000	Enhancers	HUVEC	blood vessel
32	chr21:39849800-39851000	Enhancers	NHEK	skin

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