Variant report

Variant	rs12744863
Chromosome Location	chr1:78173980-78173981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78172252..78174416-chr1:78179553..78181586,2	MCF-7	breast:
2	chr1:78168122..78170509-chr1:78172937..78175647,4	K562	blood:
3	chr1:78147992..78150631-chr1:78173939..78175492,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000036549	Chromatin interaction
ENSG00000077254	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12740982	1.00[AFR][1000 genomes]
rs34513554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34727511	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35789311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36003200	1.00[AFR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
4	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:78150200-78175600	Weak transcription	Brain Substantia Nigra	brain
7	chr1:78150400-78174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:78153400-78175600	Weak transcription	HepG2	liver
9	chr1:78153800-78174600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:78153800-78175400	Weak transcription	NHEK	skin
11	chr1:78153800-78177000	Weak transcription	Right Ventricle	heart
12	chr1:78153800-78178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:78155800-78178000	Weak transcription	Pancreas	Pancrea
14	chr1:78161000-78187400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:78161600-78178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:78162600-78174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:78165800-78178000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:78166200-78175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:78166200-78175400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:78166200-78175600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:78167600-78176800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:78168600-78186000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:78171000-78174600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:78171200-78184200	Strong transcription	Primary B cells from cord blood	blood
25	chr1:78171400-78176800	Strong transcription	HSMM	muscle
26	chr1:78171400-78182400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:78171400-78184600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:78171400-78206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:78171600-78199000	Strong transcription	Adipose Nuclei	Adipose
30	chr1:78171600-78207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:78171800-78177600	Strong transcription	Fetal Brain Male	brain
32	chr1:78171800-78178200	Strong transcription	GM12878-XiMat	blood
33	chr1:78171800-78178600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr1:78171800-78184600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:78171800-78197600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:78171800-78198000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:78171800-78200200	Strong transcription	Fetal Lung	lung
38	chr1:78171800-78205600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:78171800-78206800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:78171800-78206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:78171800-78206800	Strong transcription	Placenta	Placenta
42	chr1:78171800-78207000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:78171800-78207200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:78172000-78182400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr1:78172000-78197800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:78172000-78198800	Strong transcription	Primary T cells from cord blood	blood
47	chr1:78172000-78206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:78172200-78174200	Strong transcription	NHLF	lung
49	chr1:78172200-78176200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:78172200-78176600	Strong transcription	Brain Angular Gyrus	brain

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