Variant report

Variant	rs11693784
Chromosome Location	chr2:48741385-48741386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11675947	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11679685	0.87[AMR][1000 genomes]
rs11683444	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11687498	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687771	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11689285	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11689288	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11690526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2937	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34026270	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34542838	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4364065	0.87[AMR][1000 genomes]
rs7570877	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11693784	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
5	chr2:48722600-48741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:48723800-48748200	Strong transcription	GM12878-XiMat	blood
7	chr2:48726200-48742400	Weak transcription	Colonic Mucosa	Colon
8	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:48728200-48756800	Weak transcription	HMEC	breast
10	chr2:48728800-48741800	Weak transcription	Spleen	Spleen
11	chr2:48729000-48742800	Weak transcription	Right Ventricle	heart
12	chr2:48729600-48742800	Weak transcription	Esophagus	oesophagus
13	chr2:48732200-48751400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:48732400-48743400	Strong transcription	Primary hematopoietic stem cells	blood
15	chr2:48732400-48749600	Strong transcription	Primary B cells from cord blood	blood
16	chr2:48733400-48742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:48736000-48741800	Weak transcription	Fetal Brain Female	brain
18	chr2:48736000-48742800	Weak transcription	Aorta	Aorta
19	chr2:48736000-48742800	Weak transcription	Gastric	stomach
20	chr2:48736000-48742800	Weak transcription	Ovary	ovary
21	chr2:48736000-48742800	Weak transcription	Pancreas	Pancrea
22	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
23	chr2:48736200-48749400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:48736200-48749400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:48736400-48742600	Weak transcription	Stomach Mucosa	stomach
26	chr2:48736400-48748400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:48736400-48749600	Strong transcription	Liver	Liver
28	chr2:48736400-48750000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:48736400-48752600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:48736600-48746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:48736600-48749600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:48736600-48749800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:48736800-48747200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:48736800-48749400	Strong transcription	Fetal Thymus	thymus
37	chr2:48736800-48749600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:48737000-48744400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:48737000-48748200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:48737000-48748600	Strong transcription	Dnd41	blood
41	chr2:48737000-48749600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:48737000-48749600	Strong transcription	Brain Anterior Caudate	brain
43	chr2:48737200-48750600	Strong transcription	Fetal Intestine Large	intestine
44	chr2:48737400-48747000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:48737600-48744800	Strong transcription	HepG2	liver
46	chr2:48737600-48747000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:48737600-48749800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:48737600-48750200	Strong transcription	Primary T cells from cord blood	blood
49	chr2:48737800-48741800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:48737800-48749400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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