Variant report

Variant	rs12581171
Chromosome Location	chr12:62862739-62862740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62859623..62861378-chr12:62862535..62864580,2	K562	blood:
2	chr12:62859326..62863326-chr12:62876630..62881311,5	K562	blood:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction
ENSG00000257568	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10128830	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10128959	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10161549	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10219555	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10219765	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10735907	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10735909	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747963	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10747965	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10747966	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784299	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784302	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784303	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784306	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784307	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877851	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10877860	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877863	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877865	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877866	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877868	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877869	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877872	0.82[ASN][1000 genomes]
rs10877873	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877876	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877878	0.86[EUR][1000 genomes]
rs10877880	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877883	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10877885	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877886	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174493	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174497	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174507	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174513	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174520	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174534	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174538	0.82[ASN][1000 genomes]
rs11174539	0.86[EUR][1000 genomes]
rs11174540	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174541	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174542	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174550	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11495588	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12227568	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12300696	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12305077	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309683	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12357	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12371971	0.88[ASN][1000 genomes]
rs12371972	0.88[ASN][1000 genomes]
rs12578200	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580048	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12809279	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12810119	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829103	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1498713	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029937	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2047478	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2047479	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2141777	0.96[ASN][1000 genomes]
rs2220980	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35409044	0.81[EUR][1000 genomes]
rs4763021	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763174	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763177	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763179	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763180	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6581452	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581454	0.87[ASN][1000 genomes]
rs7134302	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7136993	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71453871	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7294404	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298782	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302027	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308021	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7316612	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7957417	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963657	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975183	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7975560	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 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	chr12:62859400-62863600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:62859600-62863000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:62859600-62863200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:62859600-62863200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:62859800-62862800	Active TSS	Pancreas	Pancrea
6	chr12:62859800-62862800	Active TSS	K562	blood
7	chr12:62859800-62863000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:62859800-62863000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:62859800-62863400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:62860000-62863000	Active TSS	HSMM	muscle
11	chr12:62860000-62863000	Active TSS	NHLF	lung
12	chr12:62860000-62863200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:62860000-62863600	Active TSS	GM12878-XiMat	blood
14	chr12:62860200-62862800	Active TSS	HMEC	breast
15	chr12:62861000-62863200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:62861200-62863200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:62861200-62863200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:62861400-62862800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:62861400-62862800	Weak transcription	Spleen	Spleen
20	chr12:62861400-62862800	Flanking Active TSS	HUVEC	blood vessel
21	chr12:62861400-62863000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:62861400-62863200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:62861400-62863400	Flanking Active TSS	Dnd41	blood
24	chr12:62861600-62862800	Weak transcription	Esophagus	oesophagus
25	chr12:62861600-62862800	Weak transcription	Lung	lung
26	chr12:62861600-62862800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:62861600-62863200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:62861600-62864800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:62861600-62865800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:62861600-62866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:62861800-62862800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:62861800-62862800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:62861800-62862800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:62861800-62862800	Weak transcription	Colonic Mucosa	Colon
35	chr12:62861800-62862800	Weak transcription	Psoas Muscle	Psoas
36	chr12:62861800-62862800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:62861800-62862800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:62861800-62862800	Active TSS	Stomach Smooth Muscle	stomach
39	chr12:62861800-62863000	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:62861800-62863200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:62861800-62863200	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:62861800-62863200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:62861800-62863200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:62861800-62863200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:62861800-62863400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr12:62861800-62863400	Enhancers	Fetal Brain Male	brain
47	chr12:62861800-62863600	Enhancers	Primary B cells from cord blood	blood
48	chr12:62861800-62863600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:62861800-62864000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:62861800-62864600	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links