Variant report

Variant	rs74078022
Chromosome Location	chr12:42719063-42719064
allele	A/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	chr12:42718636-42720635	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr12:42717644-42721241	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr12:42718896-42719076	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr12:42719012-42720786	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr12:42718981-42721792	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr12:42719041-42719504	HepG2	liver:	n/a	chr12:42719324-42719335 chr12:42719320-42719335 chr12:42719323-42719337 chr12:42719325-42719336 chr12:42719320-42719336 chr12:42719431-42719445 chr12:42719325-42719336 chr12:42719433-42719444
7	MYC	chr12:42718990-42720445	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:42718314..42720744-chr12:42735500..42738358,4	K562	blood:
2	chr12:42718161..42719676-chr12:42732826..42735743,2	MCF-7	breast:
3	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
4	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
5	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
6	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
7	chr12:42718944..42722637-chr12:42724163..42726509,5	K562	blood:

Variant related genes	Relation type
PPHLN1	TF binding region
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17091121	1.00[AMR][1000 genomes]
rs17091147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091174	1.00[AFR][1000 genomes]
rs17091186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55820023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56000886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58065973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60131568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078049	1.00[AMR][1000 genomes]
rs74078940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079127	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs754011	1.00[AFR][1000 genomes];1.00[AMR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 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	chr12:42701800-42719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:42705400-42719200	Weak transcription	Fetal Intestine Small	intestine
3	chr12:42705600-42719200	Weak transcription	Psoas Muscle	Psoas
4	chr12:42705600-42719400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:42705600-42719400	Weak transcription	Small Intestine	intestine
6	chr12:42705800-42719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:42706000-42719400	Weak transcription	Aorta	Aorta
8	chr12:42706000-42719600	Weak transcription	Spleen	Spleen
9	chr12:42707800-42719200	Weak transcription	Right Ventricle	heart
10	chr12:42707800-42719400	Weak transcription	Colonic Mucosa	Colon
11	chr12:42709000-42719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:42709000-42719400	Weak transcription	Gastric	stomach
13	chr12:42709400-42719400	Weak transcription	Esophagus	oesophagus
14	chr12:42711000-42719200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:42711400-42719200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:42712600-42719200	Weak transcription	Ovary	ovary
17	chr12:42712600-42719200	Weak transcription	Thymus	Thymus
18	chr12:42712600-42719400	Weak transcription	Lung	lung
19	chr12:42714600-42719400	Weak transcription	Left Ventricle	heart
20	chr12:42715000-42719200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:42716600-42719200	Enhancers	Stomach Mucosa	stomach
22	chr12:42716800-42719200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:42717400-42719200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:42717400-42719200	Weak transcription	Placenta	Placenta
25	chr12:42717600-42719200	Weak transcription	Fetal Thymus	thymus
26	chr12:42717800-42719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:42717800-42719400	Weak transcription	Pancreas	Pancrea
28	chr12:42718000-42719200	Enhancers	Liver	Liver
29	chr12:42718400-42719200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:42718400-42719200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:42718400-42719200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:42718400-42719200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:42718400-42719200	Flanking Active TSS	Dnd41	blood
34	chr12:42718600-42719200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:42718600-42719200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:42718600-42719200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:42718600-42719200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:42718600-42719200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:42718600-42719200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:42718600-42719200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:42718600-42719200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:42718600-42719200	Enhancers	Brain Substantia Nigra	brain
43	chr12:42718600-42719200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:42718600-42719200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:42718600-42719200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr12:42718600-42719200	Flanking Active TSS	Hela-S3	cervix
47	chr12:42718600-42719200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr12:42718600-42719200	Flanking Active TSS	NHEK	skin
49	chr12:42718600-42719400	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:42718600-42719600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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