Variant report

Variant	rs74083707
Chromosome Location	chr12:46748429-46748430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46737302..46738856-chr12:46747775..46750068,2	K562	blood:
2	chr12:46746454..46748949-chr12:46848986..46850623,2	MCF-7	breast:
3	chr12:46735641..46738339-chr12:46748312..46750267,2	MCF-7	breast:
4	chr12:46659990..46664246-chr12:46747335..46750315,4	MCF-7	breast:
5	chr12:46661346..46665632-chr12:46747975..46750389,5	MCF-7	breast:
6	chr12:46747388..46749855-chr12:46827679..46831428,3	K562	blood:
7	chr12:46747621..46748674-chr12:47054938..47055840,3	MCF-7	breast:
8	chr12:46745913..46748762-chr12:47052132..47055018,2	K562	blood:
9	chr12:46748037..46750227-chr12:46886535..46888305,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10506267	1.00[EUR][1000 genomes]
rs10506268	1.00[EUR][1000 genomes]
rs11183454	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1125908	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11830769	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11834593	0.82[ASN][1000 genomes]
rs11834905	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17096884	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2125646	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2307062	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408509	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742061	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56222195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57067899	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57149475	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57271454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57425661	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60628240	1.00[EUR][1000 genomes]
rs60977966	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61232019	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61406609	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61517444	1.00[EUR][1000 genomes]
rs73282532	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73282561	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73282591	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74083710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74084031	1.00[EUR][1000 genomes]
rs923788	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas
2	chr12:46737600-46753600	Weak transcription	Pancreas	Pancrea
3	chr12:46737600-46761200	Weak transcription	Gastric	stomach
4	chr12:46743200-46752600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:46743200-46753400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:46743400-46752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:46743600-46752400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:46743600-46752400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:46743600-46752600	Weak transcription	Right Ventricle	heart
10	chr12:46743600-46754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:46743800-46752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:46743800-46752400	Weak transcription	HUVEC	blood vessel
13	chr12:46743800-46752600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:46743800-46752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:46743800-46752600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:46743800-46752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:46743800-46752800	Weak transcription	Left Ventricle	heart
18	chr12:46743800-46753000	Weak transcription	Lung	lung
19	chr12:46743800-46753200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:46743800-46753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:46744000-46751800	Weak transcription	Primary T cells from cord blood	blood
22	chr12:46744000-46753000	Weak transcription	Dnd41	blood
23	chr12:46744000-46760600	Weak transcription	Spleen	Spleen
24	chr12:46745400-46752600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:46745800-46752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:46746000-46752600	Weak transcription	Fetal Lung	lung
27	chr12:46746000-46753000	Weak transcription	Ovary	ovary
28	chr12:46746000-46753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:46746000-46756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:46746400-46752400	Weak transcription	Adipose Nuclei	Adipose
31	chr12:46746400-46752600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:46746600-46752400	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:46746800-46752200	Weak transcription	Placenta	Placenta
34	chr12:46746800-46752400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:46746800-46752800	Weak transcription	Fetal Stomach	stomach
36	chr12:46746800-46752800	Weak transcription	NHLF	lung
37	chr12:46747000-46755600	Weak transcription	Fetal Brain Male	brain
38	chr12:46747200-46752400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:46747600-46750600	Weak transcription	Aorta	Aorta
40	chr12:46747600-46752400	Weak transcription	Brain Germinal Matrix	brain
41	chr12:46747800-46748600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:46748000-46748800	Enhancers	Fetal Kidney	kidney
43	chr12:46748000-46749000	Enhancers	HepG2	liver
44	chr12:46748000-46752600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:46748200-46748600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:46748200-46749000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:46748200-46749000	Enhancers	Stomach Mucosa	stomach
48	chr12:46748400-46748600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr12:46748400-46748600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:46748400-46748600	Enhancers	K562	blood

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