Variant report

Variant	rs12087589
Chromosome Location	chr1:174898214-174898215
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	chr1:174896436..174898470-chr1:174907347..174910296,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002125	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10158096	0.80[EUR][1000 genomes]
rs10489333	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10494493	0.80[EUR][1000 genomes]
rs10912849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063802	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12065854	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12066247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12068637	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12074821	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12084218	0.87[AFR][1000 genomes]
rs12087196	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12090265	0.84[AFR][1000 genomes]
rs12566477	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847402	0.80[EUR][1000 genomes]
rs16847450	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16847563	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16847633	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2285209	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28660133	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34952844	0.80[EUR][1000 genomes]
rs41524947	0.80[EUR][1000 genomes]
rs57366106	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826953	0.80[EUR][1000 genomes]
rs61828065	0.81[EUR][1000 genomes]
rs61828068	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61828081	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61828087	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828088	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61828121	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61828143	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828148	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828149	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61828151	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61828152	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
2	chr1:174872800-174900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
6	chr1:174883600-174900600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:174886000-174907200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:174886400-174911600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174889600-174907400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174889800-174900000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:174890000-174899600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:174890000-174900600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:174891800-174908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:174892200-174905000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:174892600-174899400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:174892600-174900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:174893400-174900000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:174893400-174907600	Weak transcription	GM12878-XiMat	blood
19	chr1:174897000-174898600	Enhancers	Brain Substantia Nigra	brain
20	chr1:174897000-174898800	Enhancers	Brain Anterior Caudate	brain
21	chr1:174897000-174898800	Enhancers	Brain Hippocampus Middle	brain
22	chr1:174897200-174900600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:174897400-174900000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:174897400-174900000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:174897400-174903600	Weak transcription	Pancreas	Pancrea
26	chr1:174897400-174910000	Weak transcription	Gastric	stomach
27	chr1:174897800-174898800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:174897800-174900200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:174897800-174900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:174897800-174900400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:174897800-174900600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:174897800-174907200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:174898000-174898600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:174898000-174900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:174898000-174900200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:174898000-174900600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:174898200-174898800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:174898200-174900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:174898200-174900400	Weak transcription	Brain Angular Gyrus	brain

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