Variant report

Variant	rs74066794
Chromosome Location	chr12:21796095-21796096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:21795565-21796124	GM12892	blood:	n/a	n/a
2	EBF1	chr12:21796029-21796256	GM12878	blood:	n/a	n/a
3	FOS	chr12:21795664-21796130	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr12:21795595-21796209	A549	lung:	n/a	chr12:21795876-21795887 chr12:21795874-21795885
5	CEBPB	chr12:21795672-21796118	A549	lung:	n/a	chr12:21795876-21795887 chr12:21795874-21795885
6	POLR2A	chr12:21795600-21796204	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr12:21795812-21796140	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:21795714-21796097	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:21794854-21807737	K562	blood:	n/a	n/a
10	STAT3	chr12:21795727-21796122	MCF10A-Er-Src	breast:	n/a	chr12:21796053-21796060

Variant related genes	Relation type
LDHB	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs55794995	0.86[AFR][1000 genomes]
rs55812798	1.00[AFR][1000 genomes]
rs55839871	1.00[AFR][1000 genomes]
rs56172202	1.00[AFR][1000 genomes]
rs56224342	1.00[AFR][1000 genomes]
rs57232038	1.00[AFR][1000 genomes]
rs57749821	1.00[AFR][1000 genomes]
rs58679435	1.00[AFR][1000 genomes]
rs59266655	0.86[AFR][1000 genomes]
rs59824507	1.00[AFR][1000 genomes]
rs74066740	1.00[AFR][1000 genomes]
rs74066764	1.00[AFR][1000 genomes]
rs74066768	1.00[AFR][1000 genomes]
rs74066772	1.00[AFR][1000 genomes]
rs74066775	1.00[AFR][1000 genomes]
rs74066795	1.00[AFR][1000 genomes]
rs74067605	1.00[AFR][1000 genomes]
rs74067613	1.00[AFR][1000 genomes]
rs74067615	1.00[AFR][1000 genomes]
rs74067617	1.00[AFR][1000 genomes]
rs74067618	1.00[AFR][1000 genomes]
rs74067619	1.00[AFR][1000 genomes]
rs74067620	1.00[AFR][1000 genomes]
rs74067622	1.00[AFR][1000 genomes]
rs74067623	1.00[AFR][1000 genomes]
rs74067624	1.00[AFR][1000 genomes]
rs74067627	1.00[AFR][1000 genomes]
rs74067629	1.00[AFR][1000 genomes]
rs74067644	1.00[AFR][1000 genomes]
rs74067645	1.00[AFR][1000 genomes]
rs74067646	1.00[AFR][1000 genomes]
rs74067649	1.00[AFR][1000 genomes]
rs74067651	1.00[AFR][1000 genomes]
rs74067652	1.00[AFR][1000 genomes]
rs74067653	1.00[AFR][1000 genomes]
rs74067654	1.00[AFR][1000 genomes]
rs74067657	1.00[AFR][1000 genomes]
rs74067658	1.00[AFR][1000 genomes]
rs74067680	1.00[AFR][1000 genomes]
rs74069162	0.86[AFR][1000 genomes]
rs74069171	0.86[AFR][1000 genomes]
rs74069308	1.00[AFR][1000 genomes]
rs74069309	1.00[AFR][1000 genomes]
rs74069310	1.00[AFR][1000 genomes]
rs74069324	1.00[AFR][1000 genomes]
rs74069330	0.86[AFR][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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr12:21781200-21796400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
3	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
4	chr12:21783800-21801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:21785000-21801400	Strong transcription	Dnd41	blood
6	chr12:21785200-21798600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:21785400-21797600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:21785400-21805200	Strong transcription	GM12878-XiMat	blood
9	chr12:21785800-21797000	Strong transcription	Primary B cells from cord blood	blood
10	chr12:21785800-21797200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:21785800-21807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:21786000-21796200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:21786200-21797600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:21786200-21807000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:21786400-21796600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:21786400-21807800	Strong transcription	Osteobl	bone
17	chr12:21786800-21799200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:21787000-21801400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr12:21787200-21796200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:21787200-21796200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:21787200-21796200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:21787200-21798400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:21787200-21806800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:21787200-21807400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:21787200-21807600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:21787200-21808200	Strong transcription	NH-A	brain
32	chr12:21787200-21808600	Strong transcription	HMEC	breast
33	chr12:21787200-21808600	Strong transcription	HSMM	muscle
34	chr12:21787400-21803800	Strong transcription	HUVEC	blood vessel
35	chr12:21787600-21797800	Strong transcription	Hela-S3	cervix
36	chr12:21787800-21801800	Strong transcription	NHDF-Ad	bronchial
37	chr12:21788000-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:21788600-21810000	Weak transcription	Liver	Liver
39	chr12:21788800-21798000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:21788800-21798000	Weak transcription	Spleen	Spleen
41	chr12:21788800-21798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:21788800-21798400	Weak transcription	Gastric	stomach
43	chr12:21788800-21801400	Weak transcription	Right Ventricle	heart
44	chr12:21788800-21803800	Weak transcription	Esophagus	oesophagus
45	chr12:21788800-21803800	Weak transcription	Pancreas	Pancrea
46	chr12:21789000-21798200	Weak transcription	Lung	lung
47	chr12:21789800-21797400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:21790000-21808200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:21790200-21806000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:21791000-21797800	Strong transcription	K562	blood

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