Variant report

Variant	rs66640078
Chromosome Location	chr1:184691334-184691335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184691316..184693435-chr1:184696792..184698671,2	K562	blood:
2	chr1:184684929..184687575-chr1:184691047..184693770,2	K562	blood:
3	chr1:184684929..184687575-chr1:184691047..184694725,3	K562	blood:
4	chr1:184689208..184691791-chr1:184942117..184944886,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11804210	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4131995	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56335635	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395537	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60400761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60787651	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6660367	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690603	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67386341	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7512112	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513276	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537286	0.80[AMR][1000 genomes]
rs7542913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286853	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9660114	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660352	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9661302	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
4	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
5	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:184661600-184693200	Strong transcription	Dnd41	blood
11	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
14	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:184665600-184700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:184666000-184691400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:184666200-184704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr1:184668600-184693000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:184669400-184692600	Strong transcription	Osteobl	bone
22	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:184669800-184692600	Strong transcription	Placenta	Placenta
24	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:184671400-184692600	Strong transcription	Adipose Nuclei	Adipose
26	chr1:184673200-184694600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:184673200-184699400	Weak transcription	Gastric	stomach
28	chr1:184673200-184702800	Weak transcription	Spleen	Spleen
29	chr1:184674600-184692800	Strong transcription	HSMM	muscle
30	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
31	chr1:184674800-184702200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:184675000-184692400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:184676400-184693000	Strong transcription	K562	blood
34	chr1:184677400-184702800	Weak transcription	Pancreas	Pancrea
35	chr1:184677600-184723200	Weak transcription	Lung	lung
36	chr1:184678800-184710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:184679800-184692800	Strong transcription	Liver	Liver
38	chr1:184680200-184695000	Weak transcription	Hela-S3	cervix
39	chr1:184681400-184695800	Weak transcription	Fetal Stomach	stomach
40	chr1:184681400-184704800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:184682400-184691400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:184684400-184691600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:184685000-184701400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:184685000-184701800	Weak transcription	A549	lung
45	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
46	chr1:184685400-184696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:184685400-184722800	Weak transcription	Ovary	ovary
48	chr1:184685600-184694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:184685600-184700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:184685600-184701600	Weak transcription	Brain Angular Gyrus	brain

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