Variant report

Variant	rs1469941
Chromosome Location	chr2:209214996-209214997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10175739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10182087	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10186531	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10208191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10208295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10210393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10497899	0.85[AMR][1000 genomes]
rs1057390	1.00[JPT][hapmap]
rs10932256	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10932259	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11693993	0.94[ASN][1000 genomes]
rs11695873	1.00[ASN][1000 genomes]
rs11897897	1.00[JPT][hapmap]
rs12617521	0.94[ASN][1000 genomes]
rs12618837	1.00[ASN][1000 genomes]
rs12621871	1.00[ASN][1000 genomes]
rs12623816	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12694109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1370375	1.00[JPT][hapmap]
rs1370377	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1437414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1465803	1.00[ASN][1000 genomes]
rs1465804	1.00[ASN][1000 genomes]
rs1529979	1.00[ASN][1000 genomes]
rs1561240	1.00[ASN][1000 genomes]
rs1595329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16840798	1.00[CHB][hapmap]
rs16840864	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16840898	0.85[AFR][1000 genomes]
rs16840910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840936	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16841231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1866044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1866045	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1898436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1898437	0.85[ASN][1000 genomes]
rs2118295	1.00[ASN][1000 genomes]
rs2118296	1.00[ASN][1000 genomes]
rs2118297	1.00[ASN][1000 genomes]
rs2304544	1.00[ASN][1000 genomes]
rs2363468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2363469	1.00[ASN][1000 genomes]
rs2363579	1.00[ASN][1000 genomes]
rs3856350	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4462735	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4673395	1.00[JPT][hapmap]
rs4675748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4675750	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4675751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4675754	1.00[ASN][1000 genomes]
rs4675755	1.00[ASN][1000 genomes]
rs4675757	1.00[ASN][1000 genomes]
rs4675758	1.00[ASN][1000 genomes]
rs4675760	1.00[ASN][1000 genomes]
rs4675761	0.94[ASN][1000 genomes]
rs57553077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57797425	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59149007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6435444	1.00[ASN][1000 genomes]
rs6435445	1.00[ASN][1000 genomes]
rs6435446	1.00[ASN][1000 genomes]
rs6435450	1.00[ASN][1000 genomes]
rs6435452	1.00[ASN][1000 genomes]
rs6435454	1.00[ASN][1000 genomes]
rs6713477	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6718402	1.00[ASN][1000 genomes]
rs6721780	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6725932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6734963	1.00[ASN][1000 genomes]
rs6742461	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6751982	0.86[ASN][1000 genomes]
rs6758207	1.00[ASN][1000 genomes]
rs7355562	0.94[ASN][1000 genomes]
rs7583022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7592472	0.94[ASN][1000 genomes]
rs893253	0.97[ASN][1000 genomes]
rs893255	1.00[ASN][1000 genomes]
rs9288394	1.00[JPT][hapmap]
rs959660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs962595	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9646839	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs976247	1.00[ASN][1000 genomes]
rs994696	1.00[ASN][1000 genomes]
rs994697	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv460055	chr2:209208115-209221935	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv584302	chr2:209208115-209221935	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
4	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:209188800-209215400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:209188800-209220400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:209188800-209221200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:209188800-209221200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:209188800-209221800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:209188800-209222200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:209188800-209222400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:209188800-209222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:209188800-209223600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:209188800-209223800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:209188800-209224000	Strong transcription	Primary B cells from cord blood	blood
19	chr2:209188800-209224000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:209188800-209224200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:209188800-209224400	Strong transcription	Dnd41	blood
22	chr2:209190600-209224200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:209191000-209218000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:209191200-209215400	Weak transcription	Right Ventricle	heart
25	chr2:209191200-209215600	Weak transcription	Aorta	Aorta
26	chr2:209191200-209224200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:209192400-209218600	Weak transcription	Hela-S3	cervix
28	chr2:209194400-209220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:209195400-209220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:209195400-209223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:209195600-209216600	Weak transcription	Fetal Heart	heart
32	chr2:209195800-209216400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:209195800-209217800	Weak transcription	Fetal Brain Male	brain
34	chr2:209197800-209220400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:209198000-209220200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:209198000-209221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:209198000-209224600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:209198600-209220400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:209199400-209215400	Weak transcription	Gastric	stomach
40	chr2:209199400-209215600	Weak transcription	Esophagus	oesophagus
41	chr2:209199600-209221800	Weak transcription	Small Intestine	intestine
42	chr2:209200600-209221400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:209203800-209220200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:209204400-209215200	Weak transcription	NHEK	skin
45	chr2:209204800-209216400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:209205400-209223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:209205600-209215400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:209206600-209223800	Weak transcription	Psoas Muscle	Psoas
49	chr2:209206600-209224200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:209206600-209225400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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