Variant report

Variant	rs12469151
Chromosome Location	chr2:172281371-172281372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10460358	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10930473	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11677562	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11679641	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12052810	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12465868	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12471094	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12616940	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17285260	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1921776	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2058927	0.91[ASN][1000 genomes]
rs2356709	0.98[ASN][1000 genomes]
rs4667685	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55862836	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62181358	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62183460	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66893860	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7590275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997666	0.84[AMR][1000 genomes];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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
3	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
4	chr2:172268800-172289200	Weak transcription	HSMM	muscle
5	chr2:172272600-172282000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:172272600-172287200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
9	chr2:172273000-172283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:172278000-172288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:172278200-172289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:172279200-172282200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr2:172279200-172282200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr2:172279200-172282400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr2:172279200-172284200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:172279400-172282400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:172279400-172282400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:172279400-172282400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr2:172279600-172281800	Weak transcription	A549	lung
20	chr2:172279600-172282200	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr2:172280000-172281800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:172280000-172282400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr2:172280200-172282200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr2:172280400-172282200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:172280600-172282000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:172280600-172287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:172280600-172289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:172280800-172282200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:172280800-172282400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr2:172280800-172282400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:172281000-172281800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:172281000-172282000	Weak transcription	Esophagus	oesophagus
33	chr2:172281000-172285000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:172281000-172287200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:172281000-172287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:172281000-172289600	Weak transcription	Left Ventricle	heart
37	chr2:172281000-172289600	Weak transcription	Right Atrium	heart
38	chr2:172281000-172290200	Weak transcription	Aorta	Aorta
39	chr2:172281200-172290000	Weak transcription	Ovary	ovary

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