Variant report

Variant	rs13021138
Chromosome Location	chr2:172646631-172646632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172646571-172646778	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172639886..172641878-chr2:172646463..172647982,2	K562	blood:

Variant related genes	Relation type
SLC25A12	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11673831	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11675404	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11675891	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12991441	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13016580	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13017695	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13024662	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1554259	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17427311	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17427473	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17499306	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17499502	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17848721	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1996424	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2138349	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2357062	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34108287	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34221876	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34632749	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34962243	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35162284	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3770459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62182397	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62182402	0.82[AMR][1000 genomes]
rs62184174	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72889853	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs74173119	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs979955	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:172621000-172648000	Weak transcription	HSMMtube	muscle
4	chr2:172635400-172647600	Weak transcription	NHDF-Ad	bronchial
5	chr2:172635400-172654800	Weak transcription	A549	lung
6	chr2:172635600-172654600	Weak transcription	Liver	Liver
7	chr2:172636800-172654800	Weak transcription	Small Intestine	intestine
8	chr2:172638000-172650200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:172638600-172648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:172638600-172650600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:172638800-172648400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:172638800-172650400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:172638800-172650800	Strong transcription	Primary T cells from cord blood	blood
14	chr2:172638800-172650800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:172638800-172651000	Strong transcription	Dnd41	blood
16	chr2:172639200-172648400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:172639200-172650200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:172639200-172650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:172639600-172648400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:172639800-172650200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:172639800-172650600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:172640000-172648400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172640000-172648400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr2:172640000-172650400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:172640000-172650400	Strong transcription	Fetal Thymus	thymus
26	chr2:172640000-172651400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:172640200-172646800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:172640200-172647600	Strong transcription	Lung	lung
29	chr2:172640200-172648400	Strong transcription	Right Ventricle	heart
30	chr2:172640200-172648600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:172640200-172648800	Strong transcription	GM12878-XiMat	blood
32	chr2:172640200-172650400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:172640200-172650600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:172640200-172651000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:172640200-172662800	Weak transcription	Fetal Brain Male	brain
36	chr2:172640400-172668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:172640600-172650600	Strong transcription	Left Ventricle	heart
38	chr2:172640800-172648200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:172641000-172648800	Strong transcription	Thymus	Thymus
40	chr2:172641000-172650400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:172641000-172650400	Strong transcription	Fetal Stomach	stomach
42	chr2:172641600-172666400	Weak transcription	Fetal Kidney	kidney
43	chr2:172642000-172649800	Weak transcription	HMEC	breast
44	chr2:172642200-172648000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:172642200-172651400	Weak transcription	Fetal Heart	heart
46	chr2:172642200-172651400	Weak transcription	Fetal Intestine Large	intestine
47	chr2:172642200-172654000	Weak transcription	HUVEC	blood vessel
48	chr2:172642200-172654600	Weak transcription	NHEK	skin
49	chr2:172642200-172654800	Weak transcription	HSMM	muscle
50	chr2:172642200-172663600	Weak transcription	K562	blood

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