Variant report

Variant	rs1812638
Chromosome Location	chr2:179620456-179620457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10221557	1.00[AMR][1000 genomes]
rs10803917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10803918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902672	0.82[AFR][1000 genomes]
rs13408466	1.00[AMR][1000 genomes]
rs13422986	1.00[AMR][1000 genomes]
rs13427087	1.00[AMR][1000 genomes]
rs16866469	1.00[AMR][1000 genomes]
rs16866476	1.00[AMR][1000 genomes]
rs16866477	1.00[AMR][1000 genomes]
rs16866485	0.82[AFR][1000 genomes]
rs16866488	1.00[AMR][1000 genomes]
rs16866489	1.00[AMR][1000 genomes]
rs16866490	1.00[AMR][1000 genomes]
rs16866539	1.00[AMR][1000 genomes]
rs2366910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894036	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56821960	1.00[AMR][1000 genomes]
rs57389274	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738484	1.00[AMR][1000 genomes]
rs72646882	1.00[AMR][1000 genomes]
rs72648903	1.00[AMR][1000 genomes]
rs72648906	0.87[AFR][1000 genomes]
rs922985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:179588200-179622800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179598600-179622200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:179600800-179621200	Weak transcription	Pancreas	Pancrea
9	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:179610400-179621000	Strong transcription	HSMMtube	muscle
11	chr2:179610800-179671400	Weak transcription	Ovary	ovary
12	chr2:179613000-179623600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:179614200-179626400	Strong transcription	Primary T cells from cord blood	blood
14	chr2:179614200-179645200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:179614400-179632400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:179614800-179626600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:179614800-179628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:179615000-179621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:179616000-179620800	Weak transcription	Primary B cells from cord blood	blood
20	chr2:179617000-179621200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:179617200-179627800	Weak transcription	Psoas Muscle	Psoas
22	chr2:179617400-179622600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:179618600-179626600	Genic enhancers	Fetal Heart	heart
24	chr2:179619000-179636000	Strong transcription	Left Ventricle	heart
25	chr2:179619200-179630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:179619400-179625800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:179619600-179622600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:179619800-179621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:179620000-179621000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:179620000-179621800	Strong transcription	Right Ventricle	heart
31	chr2:179620000-179622000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:179620200-179621000	Weak transcription	HMEC	breast
33	chr2:179620200-179621200	Weak transcription	NHEK	skin
34	chr2:179620400-179622000	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links