Variant report

Variant	rs11689285
Chromosome Location	chr2:48699917-48699918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10195717	0.89[CEU][hapmap]
rs11674217	1.00[CEU][hapmap]
rs11675947	0.81[EUR][1000 genomes]
rs11677205	0.88[CEU][hapmap]
rs11678934	1.00[CEU][hapmap]
rs11683202	0.88[CEU][hapmap]
rs11683444	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11687461	0.90[CEU][hapmap]
rs11687498	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11687771	1.00[CEU][hapmap]
rs11689288	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11690526	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11692537	1.00[CEU][hapmap]
rs11693784	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13398456	0.90[CEU][hapmap]
rs17397449	0.88[CEU][hapmap]
rs2937	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34026270	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34542838	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11689285	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:48687600-48707200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:48689200-48702600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:48689800-48702200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:48694000-48729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
12	chr2:48694400-48706600	Weak transcription	Fetal Brain Male	brain
13	chr2:48694800-48706000	Weak transcription	Small Intestine	intestine
14	chr2:48695000-48707600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:48695200-48701400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:48695200-48701600	Weak transcription	HSMMtube	muscle
17	chr2:48695200-48706000	Weak transcription	Stomach Mucosa	stomach
18	chr2:48695200-48707200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:48695200-48707400	Weak transcription	Spleen	Spleen
20	chr2:48695200-48709800	Weak transcription	NHLF	lung
21	chr2:48695200-48723800	Weak transcription	Gastric	stomach
22	chr2:48695200-48725800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:48695200-48728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:48695400-48700600	Weak transcription	Fetal Lung	lung
25	chr2:48695400-48706400	Weak transcription	HepG2	liver
26	chr2:48695400-48706800	Weak transcription	Brain Germinal Matrix	brain
27	chr2:48695400-48706800	Weak transcription	HMEC	breast
28	chr2:48695400-48707000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:48695400-48709200	Weak transcription	HUVEC	blood vessel
30	chr2:48695400-48728000	Weak transcription	Hela-S3	cervix
31	chr2:48695600-48701600	Weak transcription	HSMM	muscle
32	chr2:48695600-48713400	Weak transcription	Colonic Mucosa	Colon
33	chr2:48695600-48735200	Weak transcription	K562	blood
34	chr2:48696200-48701800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:48696200-48701800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:48696200-48703200	Weak transcription	Brain Anterior Caudate	brain
37	chr2:48696200-48704600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:48696200-48704600	Weak transcription	Adipose Nuclei	Adipose
39	chr2:48696200-48704600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:48696200-48705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:48696200-48706800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:48696200-48707200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:48696200-48721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:48696400-48700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:48696400-48700600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:48696400-48701200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:48696400-48701200	Weak transcription	Fetal Stomach	stomach
48	chr2:48696400-48701400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:48696400-48701400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:48696400-48701800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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