Variant report

Variant	rs61699126
Chromosome Location	chr12:50923885-50923886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50909307..50911396-chr12:50923747..50926654,2	K562	blood:
2	chr12:50923171..50925845-chr12:50949350..50951662,2	K562	blood:
3	chr12:50923041..50925350-chr12:50976713..50978567,2	MCF-7	breast:
4	chr12:50919290..50923217-chr12:50923759..50928110,5	MCF-7	breast:
5	chr12:50918697..50921193-chr12:50921774..50924636,2	K562	blood:
6	chr12:50923006..50924526-chr12:50934778..50936966,2	K562	blood:
7	chr12:50916433..50918071-chr12:50922650..50924166,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10747583	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783375	0.94[ASN][1000 genomes]
rs10876045	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876055	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876059	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876066	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876069	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10876074	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11169453	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169470	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169484	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169486	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169490	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169492	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169506	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11169523	0.88[AMR][1000 genomes]
rs11169524	0.89[AMR][1000 genomes]
rs12307178	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12372538	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425362	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12427378	0.89[AMR][1000 genomes]
rs12582683	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12814717	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12818741	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12825915	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1316442	0.84[AMR][1000 genomes]
rs1316607	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13378012	0.85[AMR][1000 genomes]
rs1967576	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2090852	0.89[AMR][1000 genomes]
rs2139930	0.89[AMR][1000 genomes]
rs2243571	0.81[ASN][1000 genomes]
rs2280503	0.81[AMR][1000 genomes]
rs34553264	0.89[AMR][1000 genomes]
rs34682944	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3742062	0.85[AMR][1000 genomes]
rs3935138	0.97[ASN][1000 genomes]
rs3935870	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4617661	0.95[ASN][1000 genomes]
rs4768847	0.94[ASN][1000 genomes]
rs61926278	0.84[AMR][1000 genomes]
rs6580756	0.94[ASN][1000 genomes]
rs67092086	0.98[ASN][1000 genomes]
rs7133160	0.86[AMR][1000 genomes]
rs7133687	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137845	0.87[AMR][1000 genomes]
rs7298661	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7298665	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7302435	0.86[AMR][1000 genomes]
rs7305375	0.84[ASN][1000 genomes]
rs7316864	0.97[ASN][1000 genomes]
rs7397999	0.97[ASN][1000 genomes]
rs7487429	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965652	0.86[AMR][1000 genomes]
rs9788075	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61699126	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs61699126	CERS5	cis	Nerve Tibial	GTEx
rs61699126	ATF1	cis	Artery Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
2	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
3	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:50909000-50925400	Weak transcription	Lung	lung
6	chr12:50910800-50925400	Weak transcription	Placenta	Placenta
7	chr12:50911400-50924200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:50911400-50926400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:50912000-50924200	Weak transcription	HMEC	breast
11	chr12:50912000-50925400	Weak transcription	Dnd41	blood
12	chr12:50912000-50926000	Weak transcription	Osteobl	bone
13	chr12:50912000-50926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:50912200-50925200	Weak transcription	HUVEC	blood vessel
15	chr12:50914800-50926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:50915000-50924400	Weak transcription	Fetal Thymus	thymus
17	chr12:50915600-50925800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:50915600-50926400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:50916200-50925400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:50916400-50926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:50918400-50925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:50918600-50925200	Weak transcription	K562	blood
24	chr12:50918600-50925800	Weak transcription	HSMM	muscle
25	chr12:50918600-50926400	Weak transcription	Fetal Lung	lung
26	chr12:50918800-50924200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:50919000-50926000	Weak transcription	Thymus	Thymus
29	chr12:50919000-50926600	Enhancers	Brain Substantia Nigra	brain
30	chr12:50919400-50925400	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:50920200-50926400	Weak transcription	Right Ventricle	heart
32	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
33	chr12:50920400-50926200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:50920400-50927000	Weak transcription	Adipose Nuclei	Adipose
35	chr12:50920400-50931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:50920800-50925200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:50920800-50925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:50920800-50929200	Weak transcription	Fetal Stomach	stomach
39	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
40	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
41	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:50921000-50924200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50921000-50929200	Enhancers	Liver	Liver
44	chr12:50921000-50939400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:50921000-50940200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:50921200-50927200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:50921200-50939800	Weak transcription	Brain Germinal Matrix	brain
48	chr12:50921400-50925200	Weak transcription	Colonic Mucosa	Colon
49	chr12:50921400-50925800	Weak transcription	Fetal Intestine Large	intestine
50	chr12:50921400-50926400	Enhancers	HepG2	liver

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