Variant report

Variant	rs721144
Chromosome Location	chr5:178019151-178019152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:178019020-178019170	BE2_C	brain:	n/a	n/a
2	RAD21	chr5:178018907-178019314	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:178019049-178019191	K562	blood:	n/a	n/a
4	CTCF	chr5:178019100-178019250	K562	blood:	n/a	n/a
5	CTCF	chr5:178019095-178019195	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:178019122-178019163	HepG2	liver:	n/a	n/a
7	CTCF	chr5:178019122-178019166	GM12891	blood:	n/a	n/a
8	CTCF	chr5:178019092-178019163	MCF-7	breast:	n/a	n/a
9	CTCF	chr5:178019113-178019157	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:178019115-178019166	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:178019064-178019194	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
COL23A1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11249553	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249554	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11737903	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740194	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11746942	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11747742	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12514311	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12518589	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13155255	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156622	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35460909	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35522922	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36008351	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs501721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs519984	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs530542	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs574103	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576097	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs584415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs596780	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs602019	0.99[ASN][1000 genomes]
rs602451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs628857	0.86[AMR][1000 genomes]
rs643936	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs649585	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6882079	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6886390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702727	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7732660	0.86[AMR][1000 genomes];0.80[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs721144	CLK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178017600-178021000	Weak transcription	Spleen	Spleen
2	chr5:178017800-178021000	Weak transcription	Lung	lung
3	chr5:178017800-178021200	Weak transcription	Ovary	ovary
4	chr5:178017800-178023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:178017800-178031400	Weak transcription	Pancreas	Pancrea
6	chr5:178017800-178033400	Weak transcription	Esophagus	oesophagus
7	chr5:178017800-178033400	Weak transcription	Gastric	stomach
8	chr5:178017800-178033400	Weak transcription	Right Atrium	heart
9	chr5:178018000-178021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:178018000-178021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:178018000-178021200	Weak transcription	HSMM	muscle
12	chr5:178018000-178026400	Weak transcription	Placenta	Placenta
13	chr5:178018000-178028600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:178018200-178019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:178018200-178021200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:178018200-178021200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:178018200-178021400	Weak transcription	Brain Substantia Nigra	brain
18	chr5:178018200-178021400	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:178018200-178021800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:178018200-178022000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:178018200-178022200	Weak transcription	Liver	Liver
22	chr5:178018200-178030000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:178018200-178032600	Weak transcription	Brain Angular Gyrus	brain
24	chr5:178018200-178043200	Weak transcription	Aorta	Aorta
25	chr5:178018400-178020800	Weak transcription	Fetal Stomach	stomach
26	chr5:178018400-178023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:178018400-178024200	Weak transcription	Osteobl	bone
28	chr5:178018400-178029600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:178018600-178019400	Enhancers	Psoas Muscle	Psoas
30	chr5:178018600-178021400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:178018600-178021800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:178018600-178022000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:178018600-178026400	Weak transcription	HSMMtube	muscle
34	chr5:178018600-178030000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:178018800-178021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:178018800-178021200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:178018800-178022200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:178018800-178024600	Weak transcription	Left Ventricle	heart
39	chr5:178019000-178022200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:178019000-178022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:178019000-178029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:178019000-178031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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