Variant report

Variant	rs7578257
Chromosome Location	chr2:55345758-55345759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
7	chr2:55344212..55347124-chr2:55355193..55359491,3	K562	blood:
8	chr2:55276893..55279420-chr2:55345173..55348059,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1009555	1.00[ASW][hapmap];0.80[CEU][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10175851	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397192	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409560	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714383	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722862	1.00[CHB][hapmap]
rs6725139	0.83[ASW][hapmap]
rs67296270	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67437655	1.00[ASN][1000 genomes]
rs6744220	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7578257	ACYP2	cis	parietal	SCAN

Chromatin state (count:76 , 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	chr2:55339800-55345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:55339800-55347000	Weak transcription	Lung	lung
10	chr2:55340200-55346200	Weak transcription	Fetal Brain Female	brain
11	chr2:55340400-55345800	Enhancers	K562	blood
12	chr2:55340600-55347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:55340800-55346000	Weak transcription	Spleen	Spleen
14	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
16	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
17	chr2:55341000-55345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:55341000-55346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:55341000-55346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:55341000-55346800	Weak transcription	Placenta	Placenta
21	chr2:55341200-55345800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:55341200-55346200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:55341200-55346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:55341200-55347000	Weak transcription	Stomach Mucosa	stomach
25	chr2:55341400-55345800	Weak transcription	Adipose Nuclei	Adipose
26	chr2:55341600-55345800	Weak transcription	Fetal Thymus	thymus
27	chr2:55342200-55346200	Enhancers	Hela-S3	cervix
28	chr2:55342200-55347000	Enhancers	HSMMtube	muscle
29	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
30	chr2:55343000-55346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:55343200-55345800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:55343200-55345800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:55343200-55346800	Weak transcription	Right Atrium	heart
34	chr2:55343200-55347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:55343400-55346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:55343400-55347400	Weak transcription	Esophagus	oesophagus
37	chr2:55343600-55345800	Weak transcription	HUVEC	blood vessel
38	chr2:55343600-55345800	Weak transcription	Osteobl	bone
39	chr2:55343600-55346000	Weak transcription	HSMM	muscle
40	chr2:55343600-55346400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:55343600-55346800	Weak transcription	NHLF	lung
42	chr2:55343600-55347400	Weak transcription	NH-A	brain
43	chr2:55343800-55345800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:55343800-55346000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:55344200-55347200	Enhancers	Fetal Muscle Leg	muscle
46	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:55344600-55345800	Weak transcription	NHDF-Ad	bronchial
49	chr2:55344600-55346000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:55344600-55347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links