Variant report

Variant	rs4894044
Chromosome Location	chr2:179632133-179632134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11893580	1.00[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12614435	0.81[JPT][hapmap]
rs12622914	0.81[JPT][hapmap];0.93[TSI][hapmap]
rs12693164	0.81[JPT][hapmap];0.93[TSI][hapmap]
rs12693166	0.81[JPT][hapmap];0.90[TSI][hapmap]
rs12693167	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12997957	0.81[JPT][hapmap];0.93[TSI][hapmap]
rs12998857	0.81[JPT][hapmap]
rs13390491	0.81[JPT][hapmap];0.93[TSI][hapmap]
rs13420249	0.88[GIH][hapmap]
rs1484118	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866465	0.81[JPT][hapmap];0.93[TSI][hapmap]
rs16866538	0.88[GIH][hapmap]
rs17076	0.85[YRI][hapmap]
rs2129110	0.81[JPT][hapmap];0.84[TSI][hapmap]
rs2303828	0.81[JPT][hapmap]
rs2562834	0.81[TSI][hapmap]
rs4471922	0.92[MKK][hapmap]
rs4894042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750145	0.81[JPT][hapmap];0.86[TSI][hapmap]
rs746578	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7559166	0.96[ASN][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:179610800-179671400	Weak transcription	Ovary	ovary
7	chr2:179614200-179645200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:179614400-179632400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:179619000-179636000	Strong transcription	Left Ventricle	heart
10	chr2:179620600-179634400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:179622600-179640600	Weak transcription	Pancreas	Pancrea
12	chr2:179627000-179655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:179627400-179636000	Weak transcription	Lung	lung
14	chr2:179627400-179653200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179627600-179639200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:179627600-179652600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
18	chr2:179627800-179632400	Strong transcription	Psoas Muscle	Psoas
19	chr2:179628000-179636400	Strong transcription	Primary T cells from cord blood	blood
20	chr2:179628000-179638600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:179629000-179636200	Genic enhancers	Fetal Heart	heart
22	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
23	chr2:179630600-179632400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:179630600-179651000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:179630800-179640800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:179631200-179632200	Weak transcription	Right Ventricle	heart
27	chr2:179631200-179633000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:179631200-179634800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:179631200-179649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:179631400-179632200	Weak transcription	Primary B cells from cord blood	blood
31	chr2:179631400-179633000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:179631400-179636600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:179631600-179635600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:179631800-179632800	Enhancers	Brain Germinal Matrix	brain
35	chr2:179631800-179632800	Genic enhancers	HSMMtube	muscle
36	chr2:179632000-179632400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:179632000-179632800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:179632000-179632800	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:179632000-179632800	Strong transcription	Fetal Thymus	thymus
40	chr2:179632000-179633000	Enhancers	HSMM	muscle
41	chr2:179632000-179635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:179632000-179658800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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