Variant report

Variant	rs4894014
Chromosome Location	chr2:179214687-179214688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179213210..179214878-chr2:179229639..179231620,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10181771	0.84[ASN][1000 genomes]
rs10497513	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497514	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930829	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892094	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151447	0.86[ASN][1000 genomes]
rs12464536	0.87[ASN][1000 genomes]
rs12467053	0.84[ASN][1000 genomes]
rs12471790	0.86[ASN][1000 genomes]
rs12474802	0.87[ASN][1000 genomes]
rs12474844	0.87[ASN][1000 genomes]
rs12474919	0.84[ASN][1000 genomes]
rs12478760	0.84[ASN][1000 genomes]
rs12479027	0.98[ASN][1000 genomes]
rs12479281	0.86[ASN][1000 genomes]
rs12618595	0.98[ASN][1000 genomes]
rs12618660	0.87[ASN][1000 genomes]
rs12620577	0.88[ASN][1000 genomes]
rs12620729	0.88[ASN][1000 genomes]
rs1368905	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368907	0.92[EUR][1000 genomes]
rs1434082	0.82[ASN][1000 genomes]
rs1434083	0.86[ASN][1000 genomes]
rs1434084	0.82[ASN][1000 genomes]
rs1434086	0.87[ASN][1000 genomes]
rs1434089	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866256	0.86[ASN][1000 genomes]
rs16866271	0.87[ASN][1000 genomes]
rs16866273	0.88[ASN][1000 genomes]
rs16866275	0.88[ASN][1000 genomes]
rs16866281	0.88[ASN][1000 genomes]
rs1812550	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836203	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836205	0.92[EUR][1000 genomes]
rs1982104	0.88[ASN][1000 genomes]
rs3813252	0.87[ASN][1000 genomes]
rs3813253	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4422196	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894011	0.91[ASN][1000 genomes]
rs55989867	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56148541	0.87[ASN][1000 genomes]
rs56366027	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433722	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753246	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6754517	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761421	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718650	0.88[ASN][1000 genomes]
rs718651	0.88[ASN][1000 genomes]
rs7559699	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559711	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs964165	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
4	chr2:179193400-179215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:179194600-179229400	Weak transcription	K562	blood
6	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:179195600-179214800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:179198400-179227400	Weak transcription	NHEK	skin
9	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
11	chr2:179201600-179218400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:179201800-179214800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:179201800-179216000	Weak transcription	Right Ventricle	heart
14	chr2:179201800-179216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:179201800-179217000	Weak transcription	Aorta	Aorta
16	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
19	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:179201800-179268200	Weak transcription	HSMM	muscle
21	chr2:179202000-179216400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:179202400-179215000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:179202400-179216400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:179202400-179216400	Weak transcription	Ovary	ovary
25	chr2:179202400-179227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:179202400-179230600	Weak transcription	Fetal Brain Male	brain
27	chr2:179202400-179248000	Weak transcription	NH-A	brain
28	chr2:179206800-179218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:179207800-179217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:179209000-179220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
32	chr2:179209600-179227200	Weak transcription	HMEC	breast
33	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
34	chr2:179213200-179229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:179213400-179216600	Strong transcription	Liver	Liver
36	chr2:179213800-179217600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:179214000-179215000	Strong transcription	Fetal Brain Female	brain
38	chr2:179214000-179217000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:179214200-179214800	Strong transcription	Brain Angular Gyrus	brain
40	chr2:179214400-179214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:179214400-179214800	ZNF genes & repeats	Lung	lung
42	chr2:179214400-179215200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:179214600-179214800	Enhancers	Fetal Intestine Large	intestine
44	chr2:179214600-179214800	Enhancers	Fetal Intestine Small	intestine
45	chr2:179214600-179215000	Strong transcription	Left Ventricle	heart
46	chr2:179214600-179215200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:179214600-179215400	Enhancers	HepG2	liver
48	chr2:179214600-179215600	Strong transcription	Brain Anterior Caudate	brain
49	chr2:179214600-179218200	Strong transcription	Brain Inferior Temporal Lobe	brain

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