Variant report

Variant	rs74090699
Chromosome Location	chr1:78247576-78247577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78146507..78148619-chr1:78246921..78248559,2	K562	blood:
2	chr1:78245914..78248830-chr1:78466317..78468664,2	K562	blood:
3	chr1:78246589..78249280-chr1:78255545..78258628,3	K562	blood:
4	chr1:78246358..78247989-chr1:78263426..78266134,2	K562	blood:
5	chr1:78247053..78249280-chr1:78255420..78258628,4	K562	blood:
6	chr1:78243777..78245728-chr1:78246123..78248245,2	K562	blood:
7	chr1:78244962..78246984-chr1:78247452..78250329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180488	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000222849	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57939520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59090864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59272007	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59814571	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689686	1.00[AMR][1000 genomes]
rs74090629	1.00[AMR][1000 genomes]
rs74090656	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092307	1.00[AMR][1000 genomes]
rs74092311	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr1:78246000-78248000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr1:78246000-78248800	Weak transcription	Stomach Mucosa	stomach
3	chr1:78246000-78249400	Weak transcription	Placenta	Placenta
4	chr1:78246000-78249400	Weak transcription	Left Ventricle	heart
5	chr1:78246000-78250000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:78246000-78250000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:78246000-78250000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:78246000-78250400	Weak transcription	Gastric	stomach
9	chr1:78246000-78250600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:78246000-78250600	Weak transcription	Lung	lung
11	chr1:78246000-78251400	Weak transcription	Spleen	Spleen
12	chr1:78246000-78251800	Weak transcription	Esophagus	oesophagus
13	chr1:78246000-78265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:78246000-78265800	Weak transcription	Pancreas	Pancrea
15	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
17	chr1:78246200-78247600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:78246200-78247800	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:78246200-78247800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:78246200-78248000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:78246200-78248000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:78246200-78248000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:78246200-78248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:78246200-78248000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:78246200-78249200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:78246200-78249400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:78246200-78249400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:78246200-78249400	Weak transcription	Ovary	ovary
29	chr1:78246200-78249400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:78246200-78249400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:78246200-78249800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:78246200-78250000	Weak transcription	Fetal Stomach	stomach
33	chr1:78246200-78250000	Weak transcription	Thymus	Thymus
34	chr1:78246200-78250400	Weak transcription	Right Ventricle	heart
35	chr1:78246200-78254000	Weak transcription	HSMMtube	muscle
36	chr1:78246200-78272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:78246200-78272800	Weak transcription	Psoas Muscle	Psoas
38	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
40	chr1:78246400-78247600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:78246400-78247600	Enhancers	Adipose Nuclei	Adipose
42	chr1:78246400-78247600	Enhancers	Brain Hippocampus Middle	brain
43	chr1:78246400-78247600	Enhancers	Colon Smooth Muscle	Colon
44	chr1:78246400-78247600	Enhancers	Fetal Brain Male	brain
45	chr1:78246400-78247600	Enhancers	Fetal Lung	lung
46	chr1:78246400-78247600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:78246400-78247800	Enhancers	Primary T cells from cord blood	blood
48	chr1:78246400-78247800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:78246400-78248000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:78246400-78248400	Weak transcription	HepG2	liver

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