Variant report

Variant	rs836970
Chromosome Location	chr12:50264802-50264803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
2	chr12:50263624..50265714-chr12:50280541..50282081,2	MCF-7	breast:
3	chr12:50262446..50266372-chr12:50284381..50286469,3	MCF-7	breast:
4	chr12:50263777..50265615-chr12:50332249..50333962,2	K562	blood:
5	chr12:50236583..50238267-chr12:50264548..50267358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10747567	0.82[EUR][1000 genomes]
rs10747568	0.82[EUR][1000 genomes]
rs10783321	0.81[EUR][1000 genomes]
rs10783323	0.82[EUR][1000 genomes]
rs10783326	0.82[EUR][1000 genomes]
rs1248263	0.82[ASN][1000 genomes]
rs1248264	0.82[ASN][1000 genomes]
rs1563168	0.81[EUR][1000 genomes]
rs2271687	0.82[EUR][1000 genomes]
rs2271688	0.82[EUR][1000 genomes]
rs3741557	0.82[EUR][1000 genomes]
rs3741558	0.81[EUR][1000 genomes]
rs383307	0.82[ASN][1000 genomes]
rs4898513	0.80[EUR][1000 genomes]
rs4898539	0.82[EUR][1000 genomes]
rs706797	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706798	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137210	0.81[EUR][1000 genomes]
rs7295882	0.82[EUR][1000 genomes]
rs7306374	0.82[EUR][1000 genomes]
rs7954572	0.82[EUR][1000 genomes]
rs7967564	0.81[EUR][1000 genomes]
rs7969178	0.82[EUR][1000 genomes]
rs836959	0.82[ASN][1000 genomes]
rs836967	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836969	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897057	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9805137	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50260600-50265200	Enhancers	Right Ventricle	heart
2	chr12:50260600-50267600	Enhancers	HSMM	muscle
3	chr12:50260600-50268200	Enhancers	HSMMtube	muscle
4	chr12:50260600-50268600	Enhancers	Fetal Muscle Leg	muscle
5	chr12:50261000-50265000	Enhancers	Fetal Heart	heart
6	chr12:50261000-50265400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:50261000-50268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:50261200-50265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:50261200-50267000	Enhancers	Right Atrium	heart
10	chr12:50261600-50265800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50261800-50265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:50262000-50270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:50262400-50265800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:50263200-50266000	Weak transcription	Fetal Brain Female	brain
15	chr12:50263400-50267000	Weak transcription	Fetal Kidney	kidney
16	chr12:50263600-50265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:50263600-50265000	Genic enhancers	Brain Angular Gyrus	brain
18	chr12:50263600-50265000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr12:50263600-50265800	Strong transcription	Brain Anterior Caudate	brain
20	chr12:50263600-50265800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:50263600-50265800	Weak transcription	NH-A	brain
22	chr12:50263600-50270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:50263800-50265200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:50263800-50266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:50263800-50266200	Weak transcription	Fetal Thymus	thymus
26	chr12:50263800-50266400	Enhancers	Brain Germinal Matrix	brain
27	chr12:50263800-50266400	Weak transcription	NHDF-Ad	bronchial
28	chr12:50263800-50266600	Weak transcription	Lung	lung
29	chr12:50263800-50266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:50263800-50266600	Weak transcription	Osteobl	bone
31	chr12:50263800-50268000	Weak transcription	Gastric	stomach
32	chr12:50263800-50268400	Weak transcription	Esophagus	oesophagus
33	chr12:50263800-50271800	Weak transcription	Pancreas	Pancrea
34	chr12:50264000-50265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:50264000-50265200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr12:50264000-50266000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:50264000-50266000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:50264000-50266000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:50264000-50267200	Weak transcription	Fetal Intestine Small	intestine
40	chr12:50264000-50268800	Enhancers	Hela-S3	cervix
41	chr12:50264200-50265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:50264200-50265800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:50264200-50265800	Weak transcription	Placenta	Placenta
44	chr12:50264200-50266000	Weak transcription	K562	blood
45	chr12:50264200-50266200	Weak transcription	Fetal Lung	lung
46	chr12:50264400-50266000	Weak transcription	Fetal Stomach	stomach
47	chr12:50264600-50265000	Enhancers	Spleen	Spleen
48	chr12:50264600-50266000	Weak transcription	Left Ventricle	heart
49	chr12:50264600-50271600	Weak transcription	Fetal Brain Male	brain
50	chr12:50264800-50269200	Enhancers	Brain Substantia Nigra	brain

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