Variant report

Variant	rs694851
Chromosome Location	chr12:50426371-50426372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:
2	chr12:50423907..50426883-chr12:50433411..50436137,3	MCF-7	breast:
3	chr12:50419178..50421274-chr12:50425998..50428027,2	MCF-7	breast:
4	chr12:50421275..50423530-chr12:50424919..50426807,2	MCF-7	breast:
5	chr12:50424922..50426868-chr12:50449675..50452142,2	K562	blood:

Variant related genes	Relation type
ENSG00000161798	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000161800	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10161020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs10161120	0.94[EUR][1000 genomes]
rs10875992	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10875993	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs11169234	0.89[EUR][1000 genomes]
rs11169247	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11169256	0.92[EUR][1000 genomes]
rs11169259	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169260	0.94[EUR][1000 genomes]
rs11836389	0.92[EUR][1000 genomes]
rs12298110	0.92[EUR][1000 genomes]
rs12311010	0.96[EUR][1000 genomes]
rs12317586	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs17124264	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs2291612	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs2292720	0.92[EUR][1000 genomes]
rs2307082	0.85[CHB][hapmap]
rs296747	0.80[EUR][1000 genomes]
rs370774	0.86[CHB][hapmap]
rs378943	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4297542	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55634523	0.89[EUR][1000 genomes]
rs55652312	0.87[EUR][1000 genomes]
rs55802497	0.92[EUR][1000 genomes]
rs55936104	0.94[EUR][1000 genomes]
rs55990533	0.94[EUR][1000 genomes]
rs56099252	0.90[EUR][1000 genomes]
rs56159935	0.92[EUR][1000 genomes]
rs56232366	0.87[EUR][1000 genomes]
rs56259551	0.92[EUR][1000 genomes]
rs57014171	0.92[EUR][1000 genomes]
rs57045365	0.87[EUR][1000 genomes]
rs60000653	0.92[EUR][1000 genomes]
rs60042968	0.92[EUR][1000 genomes]
rs60456498	0.92[EUR][1000 genomes]
rs60905953	0.92[EUR][1000 genomes]
rs611434	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs615382	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629754	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs661823	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs706785	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7131715	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs7303531	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs7306035	0.89[EUR][1000 genomes]
rs7308994	0.92[EUR][1000 genomes]
rs7309480	0.92[EUR][1000 genomes]
rs7309940	0.92[EUR][1000 genomes]
rs7309966	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs73119651	0.92[EUR][1000 genomes]
rs73119660	0.92[EUR][1000 genomes]
rs73119664	0.92[EUR][1000 genomes]
rs73119671	0.92[EUR][1000 genomes]
rs73119681	0.94[EUR][1000 genomes]
rs73119688	0.94[EUR][1000 genomes]
rs73119690	0.94[EUR][1000 genomes]
rs7961683	0.92[EUR][1000 genomes]
rs7972522	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7979958	0.92[EUR][1000 genomes]
rs9325146	0.92[EUR][1000 genomes]
rs9630300	0.85[CHB][hapmap]
rs9669608	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	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
7	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
8	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50419400-50426600	Weak transcription	Gastric	stomach
2	chr12:50419800-50426400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:50420200-50426400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:50424400-50426400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:50424400-50427400	Weak transcription	HepG2	liver
6	chr12:50425800-50426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:50426000-50426600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:50426000-50426800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:50426000-50428000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:50426200-50426400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:50426200-50426400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:50426200-50426400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr12:50426200-50426400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr12:50426200-50426400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:50426200-50426400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:50426200-50426400	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:50426200-50426400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:50426200-50426400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:50426200-50426400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:50426200-50426400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:50426200-50426400	Bivalent Enhancer	Brain Hippocampus Middle	brain
22	chr12:50426200-50426400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr12:50426200-50426400	Flanking Active TSS	Esophagus	oesophagus
24	chr12:50426200-50426400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr12:50426200-50426400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr12:50426200-50426400	Enhancers	Pancreas	Pancrea
27	chr12:50426200-50426400	Enhancers	Right Ventricle	heart
28	chr12:50426200-50426400	Active TSS	Osteobl	bone
29	chr12:50426200-50426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:50426200-50426600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr12:50426200-50426600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr12:50426200-50426600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
33	chr12:50426200-50426600	Enhancers	Spleen	Spleen
34	chr12:50426200-50427000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:50426200-50427000	Active TSS	Brain Anterior Caudate	brain
36	chr12:50426200-50427200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr12:50426200-50427200	Active TSS	Fetal Kidney	kidney
38	chr12:50426200-50427400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:50426200-50427400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:50426200-50427400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:50426200-50427600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:50426200-50427800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links