Variant report

Variant	rs2920847
Chromosome Location	chr2:55345262-55345263
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
2	chr2:55343511..55346556-chr2:55364762..55366710,3	K562	blood:
3	chr2:55344367..55347078-chr2:55367240..55368928,2	K562	blood:
4	chr2:55338720..55340502-chr2:55344452..55346435,2	K562	blood:
5	chr2:55251702..55254676-chr2:55343936..55346646,2	K562	blood:
6	chr2:55344212..55347124-chr2:55355193..55359491,3	K562	blood:
7	chr2:55276893..55279420-chr2:55345173..55348059,4	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1444262	0.82[EUR][1000 genomes]
rs2920850	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2920851	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2920856	0.80[EUR][1000 genomes]
rs2920864	0.85[ASN][1000 genomes]
rs2920865	0.85[ASN][1000 genomes]
rs2920866	0.85[ASN][1000 genomes]
rs2920867	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2920868	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2968780	0.83[ASN][1000 genomes]
rs2968782	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968800	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2968801	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2968802	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2972062	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972093	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972095	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34307608	0.83[ASN][1000 genomes]
rs4672024	0.81[JPT][hapmap]

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	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2920847	ACYP2	cis	parietal	SCAN
rs2920847	FLJ31438	cis	multi-tissue	Pritchard

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55339600-55345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:55339600-55345800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:55339600-55345800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:55339600-55346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:55339600-55347000	Weak transcription	Left Ventricle	heart
8	chr2:55339800-55345600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:55339800-55345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:55339800-55347000	Weak transcription	Lung	lung
11	chr2:55340000-55345600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:55340200-55346200	Weak transcription	Fetal Brain Female	brain
13	chr2:55340400-55345800	Enhancers	K562	blood
14	chr2:55340600-55347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:55340800-55345600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:55340800-55346000	Weak transcription	Spleen	Spleen
17	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
20	chr2:55341000-55345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:55341000-55346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:55341000-55346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:55341000-55346800	Weak transcription	Placenta	Placenta
24	chr2:55341200-55345600	Weak transcription	Primary B cells from cord blood	blood
25	chr2:55341200-55345800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:55341200-55346200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:55341200-55346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:55341200-55347000	Weak transcription	Stomach Mucosa	stomach
29	chr2:55341400-55345800	Weak transcription	Adipose Nuclei	Adipose
30	chr2:55341600-55345800	Weak transcription	Fetal Thymus	thymus
31	chr2:55342200-55346200	Enhancers	Hela-S3	cervix
32	chr2:55342200-55347000	Enhancers	HSMMtube	muscle
33	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
34	chr2:55343000-55345400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:55343000-55346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:55343200-55345600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:55343200-55345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:55343200-55345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:55343200-55345800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:55343200-55345800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:55343200-55346800	Weak transcription	Right Atrium	heart
42	chr2:55343200-55347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:55343400-55345400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:55343400-55345600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:55343400-55346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:55343400-55347400	Weak transcription	Esophagus	oesophagus
47	chr2:55343600-55345800	Weak transcription	HUVEC	blood vessel
48	chr2:55343600-55345800	Weak transcription	Osteobl	bone
49	chr2:55343600-55346000	Weak transcription	HSMM	muscle
50	chr2:55343600-55346400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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