Variant report

Variant	rs3122327
Chromosome Location	chr1:92734496-92734497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10875319	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875349	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164288	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164349	0.88[EUR][1000 genomes]
rs11577572	0.81[ASN][1000 genomes]
rs11580693	0.81[ASN][1000 genomes]
rs11588153	0.81[ASN][1000 genomes]
rs11803383	0.80[EUR][1000 genomes]
rs11803457	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12086394	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12404806	0.81[ASN][1000 genomes]
rs12406749	0.81[ASN][1000 genomes]
rs12411162	0.81[ASN][1000 genomes]
rs12749317	0.81[ASN][1000 genomes]
rs1487536	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1487540	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1542685	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1872007	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2046620	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2087194	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391161	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3103170	0.85[EUR][1000 genomes]
rs3103176	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3103178	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3103181	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3122321	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3122323	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3122325	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3131813	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131814	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3131827	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131828	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3929737	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4393167	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4414050	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4658297	0.81[ASN][1000 genomes]
rs4658298	0.81[ASN][1000 genomes]
rs4658299	0.81[ASN][1000 genomes]
rs4658300	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6603962	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6603971	0.80[EUR][1000 genomes]
rs6604088	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6604090	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6661384	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6663114	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6663118	0.87[EUR][1000 genomes]
rs6663278	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6668803	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66758257	0.81[ASN][1000 genomes]
rs6689366	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6692287	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6702267	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs733012	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs745793	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7517541	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7518974	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7520275	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543947	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs912794	0.87[EUR][1000 genomes]
rs9440085	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9943178	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1794222	chr1:92711407-92735359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:92709400-92735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:92710000-92737600	Weak transcription	HSMM	muscle
7	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
10	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
11	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
12	chr1:92710600-92764000	Weak transcription	Gastric	stomach
13	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
14	chr1:92711200-92738200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:92711200-92742800	Weak transcription	NHLF	lung
16	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
18	chr1:92715600-92738200	Weak transcription	K562	blood
19	chr1:92717400-92734800	Weak transcription	Psoas Muscle	Psoas
20	chr1:92718000-92738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:92719400-92745000	Weak transcription	Esophagus	oesophagus
22	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
23	chr1:92719600-92760800	Weak transcription	Fetal Heart	heart
24	chr1:92720000-92763800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:92720200-92737600	Weak transcription	Brain Anterior Caudate	brain
26	chr1:92720200-92739000	Weak transcription	Aorta	Aorta
27	chr1:92720400-92748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:92721600-92742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:92722400-92763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:92723000-92763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:92724000-92760600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:92724200-92740800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:92724200-92745000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:92724200-92746200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:92724200-92746400	Strong transcription	Dnd41	blood
36	chr1:92724400-92736000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:92724400-92740000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:92724400-92746400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:92724400-92746600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:92724600-92763800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:92724800-92747400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:92725200-92734800	Weak transcription	Brain Germinal Matrix	brain
43	chr1:92725600-92738200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:92725800-92764000	Weak transcription	Colonic Mucosa	Colon
45	chr1:92726000-92735200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:92726200-92736400	Weak transcription	Fetal Brain Female	brain
47	chr1:92726200-92738800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:92726400-92742400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:92726800-92746400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:92727000-92763800	Weak transcription	Right Ventricle	heart

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