Variant report

Variant	rs59686285
Chromosome Location	chr2:169710535-169710536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497345	0.95[EUR][1000 genomes]
rs10497348	0.97[EUR][1000 genomes]
rs34073293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58191289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62175726	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62176769	0.97[EUR][1000 genomes]
rs62176770	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62176780	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62176781	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62176783	0.97[EUR][1000 genomes]
rs62176786	0.97[EUR][1000 genomes]
rs6739749	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6739984	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73014610	0.97[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169683400-169717600	Weak transcription	Ovary	ovary
2	chr2:169688000-169710600	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
5	chr2:169693600-169711200	Weak transcription	Lung	lung
6	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
7	chr2:169698400-169713000	Weak transcription	Fetal Heart	heart
8	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
9	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:169702200-169721200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:169702600-169721400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:169703200-169713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:169703600-169714600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:169703600-169721200	Weak transcription	GM12878-XiMat	blood
16	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:169704600-169721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:169705000-169721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
20	chr2:169705200-169711400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:169705200-169721400	Weak transcription	Fetal Kidney	kidney
22	chr2:169706000-169719000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:169706200-169717600	Weak transcription	Pancreas	Pancrea
24	chr2:169706400-169711200	Weak transcription	NH-A	brain
25	chr2:169706400-169713000	Weak transcription	Psoas Muscle	Psoas
26	chr2:169706600-169713200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:169706600-169721600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:169706600-169727800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:169706800-169711600	Strong transcription	Fetal Thymus	thymus
30	chr2:169706800-169713400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:169706800-169718400	Weak transcription	Liver	Liver
32	chr2:169707000-169711600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:169707000-169721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:169707200-169712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:169707200-169714800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:169707400-169713400	Strong transcription	Dnd41	blood
37	chr2:169707400-169722000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:169708200-169711400	Strong transcription	Fetal Intestine Small	intestine
39	chr2:169708600-169712800	Weak transcription	Fetal Stomach	stomach
40	chr2:169708600-169712800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:169708600-169723200	Weak transcription	NHLF	lung
42	chr2:169708800-169717600	Weak transcription	Gastric	stomach
43	chr2:169708800-169718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:169708800-169721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:169708800-169721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:169708800-169721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:169708800-169721200	Weak transcription	A549	lung
48	chr2:169708800-169721200	Weak transcription	HMEC	breast
49	chr2:169709200-169713400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:169709200-169721400	Weak transcription	HUVEC	blood vessel

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