Variant report

Variant	rs11169705
Chromosome Location	chr12:51498929-51498930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51474348..51478730-chr12:51495114..51501288,7	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11169713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11832566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833478	1.00[EUR][1000 genomes]
rs12307173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316220	1.00[EUR][1000 genomes]
rs12322317	0.88[AFR][1000 genomes]
rs7342309	0.80[AFR][1000 genomes]
rs7973984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51477800-51499600	Weak transcription	NHLF	lung
3	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
5	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:51482800-51499400	Strong transcription	Fetal Stomach	stomach
7	chr12:51483800-51513400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:51484000-51502000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:51484400-51506000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:51484800-51507000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:51485000-51507600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:51485000-51513200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:51485800-51513200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51486000-51511400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:51486400-51510800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:51486600-51508000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:51486800-51504600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:51486800-51508000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:51487000-51505000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:51487000-51506600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:51487000-51511400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:51487200-51502000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:51487200-51505000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:51487200-51508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:51487200-51513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:51487200-51513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:51487400-51511000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:51487600-51504800	Strong transcription	Adipose Nuclei	Adipose
30	chr12:51487600-51508200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:51487600-51512000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:51487800-51505000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:51487800-51505600	Strong transcription	Liver	Liver
34	chr12:51488000-51499800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:51488000-51507600	Strong transcription	Fetal Intestine Large	intestine
36	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:51489200-51509400	Weak transcription	Fetal Heart	heart
38	chr12:51493600-51500000	Weak transcription	Right Ventricle	heart
39	chr12:51493600-51500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:51493600-51501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:51493600-51512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:51494000-51503000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:51494200-51500000	Weak transcription	K562	blood
44	chr12:51494200-51501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:51494400-51515600	Weak transcription	Stomach Mucosa	stomach
46	chr12:51494600-51500000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:51494600-51500600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:51494600-51502200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:51494600-51518200	Weak transcription	Esophagus	oesophagus
50	chr12:51494800-51518400	Weak transcription	Aorta	Aorta

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