Variant report

Variant	rs7604392
Chromosome Location	chr2:171911986-171911987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr2:171911694-171912284	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171908937..171911322-chr2:171911969..171913669,2	K562	blood:

Variant related genes	Relation type
TLK1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490606	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823191	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859087	0.87[AFR][1000 genomes]
rs16859121	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16859137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859176	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1863679	0.82[AFR][1000 genomes]
rs2356609	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2883940	0.88[AFR][1000 genomes]
rs55644524	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55885449	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55939429	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55995602	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55997598	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56004444	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56155601	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56191582	0.87[AFR][1000 genomes]
rs56308745	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56934523	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs57173242	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57733560	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58028937	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58307585	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58685348	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60396936	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60730419	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6736045	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6746133	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73017249	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73027271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9752051	0.81[AMR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
3	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:171867800-171916200	Weak transcription	Gastric	stomach
7	chr2:171874800-171916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
9	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
10	chr2:171883600-171916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:171884200-171913000	Strong transcription	Liver	Liver
12	chr2:171888200-171913800	Strong transcription	HepG2	liver
13	chr2:171890400-171912800	Strong transcription	Placenta	Placenta
14	chr2:171890400-171917600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:171891000-171913400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
17	chr2:171892600-171916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:171892600-171918200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:171892800-171916200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:171892800-171918000	Weak transcription	NHLF	lung
21	chr2:171893000-171913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:171893200-171918400	Weak transcription	Fetal Brain Female	brain
23	chr2:171894800-171912400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:171895000-171912400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:171895000-171918000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:171895400-171917600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr2:171895600-171912400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:171895800-171914200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:171895800-171918000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:171896400-171912400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:171897200-171917600	Strong transcription	Primary B cells from cord blood	blood
32	chr2:171898200-171916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:171898200-171916200	Weak transcription	Ovary	ovary
34	chr2:171898200-171916200	Weak transcription	Thymus	Thymus
35	chr2:171898200-171916400	Weak transcription	Lung	lung
36	chr2:171898200-171928800	Weak transcription	Fetal Stomach	stomach
37	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
38	chr2:171899400-171912200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:171899800-171914800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:171899800-171916200	Strong transcription	Fetal Thymus	thymus
41	chr2:171900000-171940000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:171900200-171918400	Strong transcription	Dnd41	blood
43	chr2:171900200-171936400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:171900200-171937800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:171900400-171916200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:171900400-171916200	Weak transcription	Psoas Muscle	Psoas
47	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
48	chr2:171902000-171916200	Weak transcription	Left Ventricle	heart
49	chr2:171902000-171916200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:171902000-171918000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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