Variant report

Variant	rs61942018
Chromosome Location	chr12:49043355-49043356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49041453..49045537-chr12:49046563..49050434,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221491	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10875851	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11832160	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61942012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61942053	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61942058	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
3	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
4	chr12:49031400-49043800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
6	chr12:49034600-49045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:49034800-49044400	Weak transcription	NHEK	skin
8	chr12:49034800-49045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:49034800-49045400	Weak transcription	NHDF-Ad	bronchial
10	chr12:49035000-49044400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:49035000-49045600	Weak transcription	K562	blood
12	chr12:49035200-49046800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:49035400-49044600	Weak transcription	HMEC	breast
14	chr12:49035400-49046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:49035800-49046800	Weak transcription	Gastric	stomach
18	chr12:49035800-49046800	Weak transcription	Ovary	ovary
19	chr12:49036000-49045600	Weak transcription	Right Ventricle	heart
20	chr12:49036400-49045000	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:49036400-49045200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:49036400-49045400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:49036600-49044200	Weak transcription	Fetal Thymus	thymus
24	chr12:49036600-49044800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:49036600-49045000	Weak transcription	Left Ventricle	heart
26	chr12:49036600-49045200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:49036800-49043400	Strong transcription	A549	lung
28	chr12:49036800-49045200	Weak transcription	GM12878-XiMat	blood
29	chr12:49036800-49045200	Weak transcription	NH-A	brain
30	chr12:49036800-49072000	Strong transcription	Liver	Liver
31	chr12:49037000-49045200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:49037000-49046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:49037000-49046800	Weak transcription	NHLF	lung
34	chr12:49037200-49044600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:49037200-49045600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:49037200-49045800	Weak transcription	Fetal Kidney	kidney
37	chr12:49037200-49046400	Weak transcription	HUVEC	blood vessel
38	chr12:49037400-49045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:49037400-49045600	Weak transcription	Fetal Lung	lung
40	chr12:49037400-49046400	Weak transcription	Brain Germinal Matrix	brain
41	chr12:49037400-49046800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:49037400-49047400	Weak transcription	Fetal Brain Male	brain
43	chr12:49037800-49045000	Weak transcription	Fetal Brain Female	brain
44	chr12:49037800-49056600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
46	chr12:49038200-49070800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:49038400-49044800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:49038400-49045600	Weak transcription	HSMMtube	muscle
49	chr12:49038400-49060600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:49038600-49043600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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