Variant report

Variant	rs16861281
Chromosome Location	chr4:48392941-48392942
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12640519	0.82[AMR][1000 genomes]
rs12645266	0.82[AMR][1000 genomes]
rs16861282	0.83[AFR][1000 genomes]
rs309886	0.82[AMR][1000 genomes]
rs309889	0.82[AMR][1000 genomes]
rs309893	0.82[AMR][1000 genomes]
rs309894	0.82[AMR][1000 genomes]
rs309895	0.82[AMR][1000 genomes]
rs409176	0.82[AMR][1000 genomes]
rs419804	0.82[AMR][1000 genomes]
rs436979	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6447624	0.82[AMR][1000 genomes]
rs6819233	0.82[AMR][1000 genomes]
rs7356468	0.82[AFR][1000 genomes]
rs937952	0.82[AMR][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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv528084	chr4:48387851-48413919	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
3	chr4:48371400-48395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
5	chr4:48377800-48405000	Weak transcription	Esophagus	oesophagus
6	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:48378200-48398400	Weak transcription	A549	lung
9	chr4:48378400-48395200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:48378400-48405000	Weak transcription	Gastric	stomach
11	chr4:48378400-48405200	Weak transcription	Psoas Muscle	Psoas
12	chr4:48378600-48395200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:48379600-48393600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:48379600-48400200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:48380000-48399200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr4:48381400-48405000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:48381600-48405000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:48382200-48398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:48383000-48397200	Strong transcription	Fetal Thymus	thymus
21	chr4:48383000-48398400	Weak transcription	Fetal Brain Female	brain
22	chr4:48383000-48405200	Weak transcription	Spleen	Spleen
23	chr4:48383200-48397000	Weak transcription	HUVEC	blood vessel
24	chr4:48383200-48398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:48383200-48412000	Weak transcription	Fetal Brain Male	brain
26	chr4:48383600-48398600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:48383800-48395400	Weak transcription	HSMMtube	muscle
28	chr4:48383800-48397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:48383800-48398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:48384200-48403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:48384600-48395600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:48384600-48396000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:48385000-48404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:48385200-48394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:48385200-48395000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:48385200-48395000	Weak transcription	Fetal Stomach	stomach
37	chr4:48385200-48398600	Weak transcription	Brain Angular Gyrus	brain
38	chr4:48385200-48405000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:48385200-48405000	Weak transcription	Lung	lung
40	chr4:48385200-48405400	Weak transcription	Pancreas	Pancrea
41	chr4:48385400-48422000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:48385800-48395000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:48386000-48399000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:48387000-48422200	Weak transcription	Colonic Mucosa	Colon
45	chr4:48387400-48398000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:48387600-48398600	Weak transcription	Fetal Kidney	kidney
48	chr4:48387600-48401000	Weak transcription	HMEC	breast
49	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:48387800-48395400	Weak transcription	GM12878-XiMat	blood

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