Variant report

Variant	rs2196604
Chromosome Location	chr2:209186387-209186388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10171006	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10173938	0.83[ASN][1000 genomes]
rs10176626	0.86[ASN][1000 genomes]
rs10186531	0.82[AFR][1000 genomes]
rs10189031	0.86[ASN][1000 genomes]
rs10197958	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10201702	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10208004	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10210393	0.82[AFR][1000 genomes]
rs10804168	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10932256	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10932259	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10932260	0.86[ASN][1000 genomes]
rs11677618	0.88[ASN][1000 genomes]
rs11691208	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11691313	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12479282	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12617521	0.82[AFR][1000 genomes]
rs12621871	0.83[AFR][1000 genomes]
rs12623816	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12694105	0.88[ASN][1000 genomes]
rs1370370	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1437414	0.82[AFR][1000 genomes]
rs1529979	0.82[AFR][1000 genomes]
rs1584200	0.83[ASN][1000 genomes]
rs16840898	0.91[ASN][1000 genomes]
rs16840910	0.91[ASN][1000 genomes]
rs16840936	0.91[ASN][1000 genomes]
rs1866044	0.82[AFR][1000 genomes]
rs1866045	0.82[AFR][1000 genomes]
rs1900239	0.86[ASN][1000 genomes]
rs2363466	0.83[ASN][1000 genomes]
rs2363468	0.82[AFR][1000 genomes]
rs2363469	0.80[AFR][1000 genomes]
rs2363579	0.80[AFR][1000 genomes]
rs2885786	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4673390	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4673391	0.83[ASN][1000 genomes]
rs4673392	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4673393	0.86[ASN][1000 genomes]
rs4673395	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4675748	0.86[ASN][1000 genomes]
rs4675750	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4675751	0.86[ASN][1000 genomes]
rs4675754	0.82[AFR][1000 genomes]
rs57797425	0.91[ASN][1000 genomes]
rs60446438	0.82[ASN][1000 genomes]
rs6435441	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6435443	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6435444	0.82[AFR][1000 genomes]
rs6435445	0.80[AFR][1000 genomes]
rs6435446	0.82[AFR][1000 genomes]
rs6435450	0.80[AFR][1000 genomes]
rs6708926	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6711933	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6713477	0.82[AFR][1000 genomes]
rs6718402	0.82[AFR][1000 genomes]
rs6724208	0.86[ASN][1000 genomes]
rs6733607	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6736599	0.86[ASN][1000 genomes]
rs6742461	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6751982	0.80[AFR][1000 genomes]
rs73983727	0.85[ASN][1000 genomes]
rs7569723	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7574324	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7581075	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7587752	0.86[ASN][1000 genomes]
rs893255	0.82[AFR][1000 genomes]
rs893256	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9283521	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9288392	0.86[ASN][1000 genomes]
rs934712	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs934714	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs959855	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs976247	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
3	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:209163400-209187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
8	chr2:209166600-209189000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:209170000-209190000	Weak transcription	Right Ventricle	heart
10	chr2:209170200-209189600	Weak transcription	Colonic Mucosa	Colon
11	chr2:209174000-209187400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:209178800-209187400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:209179000-209190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:209180400-209189800	Weak transcription	Esophagus	oesophagus
16	chr2:209180400-209189800	Weak transcription	Hela-S3	cervix
17	chr2:209180400-209190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:209180600-209186400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:209180600-209187200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:209180600-209189000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:209180600-209190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:209180600-209190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:209180600-209190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
25	chr2:209181200-209187000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:209182000-209187200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:209182000-209187400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:209182000-209187400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:209182000-209187400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:209182200-209186400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:209182200-209186400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:209182200-209186800	Strong transcription	HepG2	liver
33	chr2:209182200-209187000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:209182200-209187000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:209182200-209187000	Strong transcription	Primary T cells from cord blood	blood
36	chr2:209182200-209187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:209182200-209187200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:209182200-209187400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:209182200-209187400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:209182200-209187400	Strong transcription	Liver	Liver
41	chr2:209182200-209187400	Strong transcription	Dnd41	blood
42	chr2:209182200-209187600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:209182600-209187000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:209182600-209188800	Weak transcription	HMEC	breast
46	chr2:209182800-209186400	Strong transcription	K562	blood
47	chr2:209183000-209189000	Weak transcription	Brain Angular Gyrus	brain
48	chr2:209183200-209186400	Weak transcription	Left Ventricle	heart
49	chr2:209183200-209188800	Weak transcription	Fetal Kidney	kidney
50	chr2:209183200-209188800	Weak transcription	Gastric	stomach

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