Variant report

Variant	rs60042968
Chromosome Location	chr12:50381442-50381443
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50379485..50381945-chr12:50410290..50412993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10161020	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10161120	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10875992	1.00[EUR][1000 genomes]
rs10875993	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169232	0.86[EUR][1000 genomes]
rs11169234	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169247	0.98[EUR][1000 genomes]
rs11169256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169259	0.98[EUR][1000 genomes]
rs11169260	0.98[EUR][1000 genomes]
rs11835014	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11836389	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298110	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311010	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12317586	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291612	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378943	0.96[EUR][1000 genomes]
rs4297542	1.00[EUR][1000 genomes]
rs55634523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55652312	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55802497	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936104	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55990533	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56099252	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232366	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56259551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57014171	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57045365	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60000653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60456498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60905953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs611434	0.94[EUR][1000 genomes]
rs615382	0.96[EUR][1000 genomes]
rs629754	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661823	0.83[EUR][1000 genomes]
rs694851	0.92[EUR][1000 genomes]
rs7131715	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303531	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306035	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7308994	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7309480	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7309940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309966	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119648	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119660	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119664	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119671	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119681	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73119688	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73119690	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7961683	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972522	1.00[EUR][1000 genomes]
rs7979958	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325146	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9669608	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50362600-50385800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:50367400-50401200	Weak transcription	Gastric	stomach
3	chr12:50369200-50381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:50369600-50418200	Weak transcription	Colonic Mucosa	Colon
5	chr12:50372400-50404800	Weak transcription	Spleen	Spleen
6	chr12:50373600-50381600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:50374800-50381600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:50375200-50385400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:50376200-50383800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:50376400-50385800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:50376800-50384000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:50377200-50384600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:50377600-50403200	Weak transcription	Ovary	ovary
14	chr12:50377600-50405600	Strong transcription	Fetal Thymus	thymus
15	chr12:50377800-50384000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:50377800-50399800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:50377800-50400800	Strong transcription	Thymus	Thymus
18	chr12:50378000-50386400	Weak transcription	Adipose Nuclei	Adipose
19	chr12:50378000-50399000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:50378200-50383600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:50378200-50385800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:50378200-50399200	Weak transcription	Fetal Brain Male	brain
23	chr12:50378200-50400000	Weak transcription	HSMMtube	muscle
24	chr12:50378400-50382200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:50378400-50385800	Weak transcription	Brain Angular Gyrus	brain
26	chr12:50378400-50385800	Weak transcription	Lung	lung
27	chr12:50378400-50386000	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:50378400-50386600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:50378600-50382000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:50378600-50382000	Weak transcription	Fetal Lung	lung
31	chr12:50378600-50382200	Weak transcription	NH-A	brain
32	chr12:50378600-50383600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:50378600-50383600	Weak transcription	Fetal Brain Female	brain
34	chr12:50378600-50383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:50378600-50385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:50378600-50385800	Weak transcription	Esophagus	oesophagus
37	chr12:50378600-50385800	Weak transcription	Left Ventricle	heart
38	chr12:50378600-50391800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:50378600-50400600	Strong transcription	A549	lung
40	chr12:50378600-50412800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:50378800-50381800	Weak transcription	HUVEC	blood vessel
42	chr12:50378800-50383000	Weak transcription	HSMM	muscle
43	chr12:50378800-50385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:50378800-50385800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:50378800-50385800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:50378800-50385800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:50378800-50385800	Weak transcription	Placenta	Placenta
48	chr12:50378800-50396000	Weak transcription	Right Ventricle	heart
49	chr12:50378800-50401400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:50379000-50383200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links