Variant report

Variant	rs262034
Chromosome Location	chr5:178021454-178021455
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	chr5:178021390-178021518	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178019997..178022007-chr5:178050984..178053956,2	MCF-7	breast:

Variant related genes	Relation type
COL23A1	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs262022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262025	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262026	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262043	1.00[AMR][1000 genomes]
rs262046	1.00[AMR][1000 genomes]
rs262049	1.00[AMR][1000 genomes]
rs262050	1.00[AMR][1000 genomes]
rs262058	1.00[AMR][1000 genomes]
rs436907	1.00[AMR][1000 genomes]
rs6867990	1.00[AMR][1000 genomes]
rs6873445	1.00[AMR][1000 genomes]
rs73350300	1.00[AMR][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv883216	chr5:178002325-178025087	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178017800-178023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:178017800-178031400	Weak transcription	Pancreas	Pancrea
3	chr5:178017800-178033400	Weak transcription	Esophagus	oesophagus
4	chr5:178017800-178033400	Weak transcription	Gastric	stomach
5	chr5:178017800-178033400	Weak transcription	Right Atrium	heart
6	chr5:178018000-178026400	Weak transcription	Placenta	Placenta
7	chr5:178018000-178028600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:178018200-178021800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178018200-178022000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:178018200-178022200	Weak transcription	Liver	Liver
11	chr5:178018200-178030000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:178018200-178032600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:178018200-178043200	Weak transcription	Aorta	Aorta
14	chr5:178018400-178023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:178018400-178024200	Weak transcription	Osteobl	bone
16	chr5:178018400-178029600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:178018600-178021800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:178018600-178022000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:178018600-178026400	Weak transcription	HSMMtube	muscle
20	chr5:178018600-178030000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:178018800-178022200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:178018800-178024600	Weak transcription	Left Ventricle	heart
23	chr5:178019000-178022200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:178019000-178022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:178019000-178029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:178019000-178031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:178019200-178021800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:178019200-178024200	Weak transcription	Fetal Thymus	thymus
29	chr5:178019400-178036800	Weak transcription	Psoas Muscle	Psoas
30	chr5:178019600-178027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:178020600-178028000	Weak transcription	NHLF	lung
32	chr5:178020800-178021600	Strong transcription	Fetal Stomach	stomach
33	chr5:178021200-178021600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:178021200-178021600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr5:178021200-178021600	ZNF genes & repeats	Ovary	ovary
36	chr5:178021200-178021600	ZNF genes & repeats	HSMM	muscle
37	chr5:178021200-178021800	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr5:178021200-178023200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr5:178021200-178023600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr5:178021200-178024000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:178021400-178021600	Weak transcription	Dnd41	blood
42	chr5:178021400-178022400	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr5:178021400-178023200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
44	chr5:178021400-178024000	Weak transcription	Thymus	Thymus
45	chr5:178021400-178024400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:178021400-178024400	Weak transcription	Fetal Intestine Small	intestine
47	chr5:178021400-178024400	Weak transcription	Lung	lung
48	chr5:178021400-178025200	Weak transcription	Spleen	Spleen

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