Variant report

Variant	rs33552
Chromosome Location	chr5:112315853-112315854
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112311145..112314018-chr5:112314616..112318663,4	MCF-7	breast:
2	chr5:112202949..112204762-chr5:112314290..112317071,2	MCF-7	breast:
3	chr5:112314967..112316721-chr5:112320064..112321831,2	MCF-7	breast:
4	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:
5	chr5:112313991..112316155-chr5:112326453..112328052,2	K562	blood:
6	chr5:112314675..112316382-chr5:112352070..112354061,2	K562	blood:
7	chr5:112312383..112314551-chr5:112314826..112319334,4	MCF-7	breast:
8	chr5:112312686..112316155-chr5:112325860..112328052,3	K562	blood:
9	chr5:112296171..112299064-chr5:112312877..112315865,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13156493	0.84[JPT][hapmap]
rs13177101	0.86[JPT][hapmap]
rs13186334	0.86[JPT][hapmap]
rs1363333	0.81[JPT][hapmap]
rs1549181	0.81[JPT][hapmap]
rs17372511	0.82[JPT][hapmap]
rs2112454	0.90[JPT][hapmap]
rs2416300	0.84[JPT][hapmap]
rs3185733	0.84[CEU][hapmap]
rs33544	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs33545	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs33548	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs33549	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33551	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33554	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs33556	0.83[CHB][hapmap]
rs33557	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs33558	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33559	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33560	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs33561	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33566	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33568	0.93[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3857434	0.81[JPT][hapmap]
rs4075350	0.81[JPT][hapmap]
rs4705750	0.81[JPT][hapmap]
rs4778	0.82[JPT][hapmap]
rs7670	0.90[JPT][hapmap]
rs7701781	0.81[JPT][hapmap]
rs9122	0.81[JPT][hapmap]
rs9784647	0.85[CEU][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs33552	DCP2	cis	Skin Sun Exposed Lower leg	GTEx
rs33552	MCC	cis	Whole Blood	GTEx
rs33552	DCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112312000-112316000	Active TSS	K562	blood
2	chr5:112312200-112316600	Active TSS	GM12878-XiMat	blood
3	chr5:112313000-112316400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:112313200-112329000	Weak transcription	Spleen	Spleen
5	chr5:112313600-112316400	Enhancers	Fetal Brain Male	brain
6	chr5:112313800-112337600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:112314000-112316600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:112314000-112317600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:112314000-112317800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:112314000-112318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:112314000-112320000	Weak transcription	Pancreas	Pancrea
12	chr5:112314000-112329000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:112314000-112335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:112314000-112337200	Weak transcription	Lung	lung
15	chr5:112314000-112338200	Weak transcription	Gastric	stomach
16	chr5:112314200-112316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:112314200-112316200	Enhancers	Adipose Nuclei	Adipose
18	chr5:112314200-112316400	Weak transcription	Psoas Muscle	Psoas
19	chr5:112314200-112316600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:112314200-112316600	Weak transcription	Left Ventricle	heart
21	chr5:112314200-112316800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:112314200-112316800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:112314200-112316800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:112314200-112316800	Weak transcription	Placenta	Placenta
25	chr5:112314200-112317000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:112314200-112317600	Weak transcription	Right Ventricle	heart
27	chr5:112314200-112318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:112314200-112319800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:112314200-112326800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112314200-112328800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:112314200-112328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:112314200-112332000	Weak transcription	Fetal Kidney	kidney
33	chr5:112314200-112332000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:112314200-112337000	Weak transcription	HSMMtube	muscle
35	chr5:112314200-112338200	Weak transcription	Aorta	Aorta
36	chr5:112314200-112341000	Weak transcription	Small Intestine	intestine
37	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
39	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
40	chr5:112314400-112316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr5:112314400-112316200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:112314400-112316600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:112314400-112316600	Weak transcription	Fetal Thymus	thymus
44	chr5:112314400-112317400	Weak transcription	Fetal Intestine Small	intestine
45	chr5:112314400-112317400	Weak transcription	Fetal Stomach	stomach
46	chr5:112314400-112318200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:112314400-112322400	Weak transcription	Thymus	Thymus
48	chr5:112314400-112338400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:112314600-112316000	Enhancers	NH-A	brain
50	chr5:112314600-112316200	Enhancers	Fetal Lung	lung

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