Variant report

Variant	rs262032
Chromosome Location	chr5:178018599-178018600
allele	G/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	WRNIP1	chr5:178018594-178018691	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178017942..178020045-chr5:178023632..178025333,2	K562	blood:

Variant related genes	Relation type
COL23A1	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs262022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262025	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262026	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262031	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs262035	0.94[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]
rs455087	0.82[AFR][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:6 , 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
6	esv3431503	chr5:178015746-178018644	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178017600-178019000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr5:178017600-178021000	Weak transcription	Spleen	Spleen
3	chr5:178017800-178018600	Enhancers	HSMMtube	muscle
4	chr5:178017800-178018800	Enhancers	Right Ventricle	heart
5	chr5:178017800-178019000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:178017800-178021000	Weak transcription	Lung	lung
7	chr5:178017800-178021200	Weak transcription	Ovary	ovary
8	chr5:178017800-178023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:178017800-178031400	Weak transcription	Pancreas	Pancrea
10	chr5:178017800-178033400	Weak transcription	Esophagus	oesophagus
11	chr5:178017800-178033400	Weak transcription	Gastric	stomach
12	chr5:178017800-178033400	Weak transcription	Right Atrium	heart
13	chr5:178018000-178018600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr5:178018000-178018600	Weak transcription	Left Ventricle	heart
15	chr5:178018000-178018600	Weak transcription	Psoas Muscle	Psoas
16	chr5:178018000-178018800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:178018000-178018800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:178018000-178021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:178018000-178021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:178018000-178021200	Weak transcription	HSMM	muscle
21	chr5:178018000-178026400	Weak transcription	Placenta	Placenta
22	chr5:178018000-178028600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:178018200-178018600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:178018200-178018600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:178018200-178018600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:178018200-178018800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:178018200-178018800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:178018200-178019000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:178018200-178019000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:178018200-178019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:178018200-178021200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:178018200-178021200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:178018200-178021400	Weak transcription	Brain Substantia Nigra	brain
34	chr5:178018200-178021400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:178018200-178021800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:178018200-178022000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:178018200-178022200	Weak transcription	Liver	Liver
38	chr5:178018200-178030000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:178018200-178032600	Weak transcription	Brain Angular Gyrus	brain
40	chr5:178018200-178043200	Weak transcription	Aorta	Aorta
41	chr5:178018400-178018600	Enhancers	Stomach Smooth Muscle	stomach
42	chr5:178018400-178019000	Enhancers	HMEC	breast
43	chr5:178018400-178019000	Enhancers	NHEK	skin
44	chr5:178018400-178020800	Weak transcription	Fetal Stomach	stomach
45	chr5:178018400-178023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:178018400-178024200	Weak transcription	Osteobl	bone
47	chr5:178018400-178029600	Weak transcription	Rectal Smooth Muscle	rectum

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