Variant report

Variant	rs4148964
Chromosome Location	chr18:9103321-9103322
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	MYC	chr18:9101800-9103338	K562	blood:	n/a	n/a
2	TCF12	chr18:9101611-9103380	A549	lung:	n/a	chr18:9102566-9102576
3	TBP	chr18:9103063-9103893	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr18:9102269-9103334	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr18:9101558-9103877	MCF10A-Er-Src	breast:	n/a	n/a
6	PML	chr18:9101692-9103415	GM12878	blood:	n/a	n/a
7	POLR2A	chr18:9101762-9103826	Raji	blood:	n/a	n/a
8	POLR2A	chr18:9101755-9104154	PBDE	blood:	n/a	n/a
9	WRNIP1	chr18:9102891-9103781	GM12878	blood:	n/a	n/a
10	POLR2A	chr18:9101768-9103475	GM12892	blood:	n/a	n/a
11	YY1	chr18:9102213-9103511	SK-N-SH	brain:	n/a	chr18:9102818-9102829 chr18:9102735-9102747
12	SIN3A	chr18:9102232-9103502	H1-hESC	embryonic stem cell:	n/a	n/a
13	MTA3	chr18:9101732-9104261	GM12878	blood:	n/a	n/a
14	POLR2A	chr18:9102133-9103688	ProgFib	skin:	n/a	n/a
15	TBP	chr18:9101730-9103622	K562	blood:	n/a	chr18:9102351-9102362
16	IRF1	chr18:9103158-9103950	K562	blood:	n/a	n/a
17	CHD1	chr18:9102703-9103408	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr18:9101695-9103982	IMR90	lung:	n/a	n/a
19	HCFC1	chr18:9101837-9103344	K562	blood:	n/a	n/a
20	HEY1	chr18:9101770-9103352	K562	blood:	n/a	chr18:9102817-9102832
21	EP300	chr18:9103118-9103886	GM12878	blood:	n/a	n/a
22	POLR2A	chr18:9101713-9103331	K562	blood:	n/a	n/a
23	POLR2A	chr18:9101774-9104556	GM12878	blood:	n/a	n/a
24	MAX	chr18:9102162-9103329	K562	blood:	n/a	n/a
25	POLR2A	chr18:9102115-9103328	PFSK-1	brain:	n/a	n/a
26	GATA1	chr18:9102629-9103997	PBDE	blood:	n/a	n/a
27	POLR2A	chr18:9102154-9104063	HepG2	liver:	n/a	n/a
28	POLR2A	chr18:9101613-9104658	IMR90	lung:	n/a	n/a
29	POLR2A	chr18:9102009-9104508	SK-N-MC	brain:	n/a	n/a
30	RFX5	chr18:9103063-9103711	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr18:9102242-9103407	HL-60	blood:	n/a	n/a
32	RAD21	chr18:9103252-9103836	IMR90	lung:	n/a	n/a
33	POLR2A	chr18:9102045-9103412	GM12892	blood:	n/a	n/a
34	POLR2A	chr18:9102587-9103635	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:9101525-9104962	HepG2	liver:	n/a	n/a
36	POLR2A	chr18:9103118-9104605	K562	blood:	n/a	n/a
37	POLR2A	chr18:9103121-9105207	HepG2	liver:	n/a	n/a
38	POLR2A	chr18:9101874-9104363	GM18505	blood:	n/a	n/a
39	POLR2A	chr18:9101705-9103450	Hela-S3	cervix:	n/a	n/a
40	REST	chr18:9101872-9103616	H1-neurons	neurons:	n/a	chr18:9102810-9102823 chr18:9102949-9102969 chr18:9102250-9102270 chr18:9102949-9102969 chr18:9102516-9102529
41	POLR2A	chr18:9101696-9103955	HL-60	blood:	n/a	n/a
42	POLR2A	chr18:9101897-9103400	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:9102172-9103358	K562	blood:	n/a	n/a
44	TEAD4	chr18:9101680-9104147	K562	blood:	n/a	n/a
45	POLR2A	chr18:9102053-9103357	GM12891	blood:	n/a	n/a
46	CEBPB	chr18:9103053-9103700	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr18:9102110-9103526	PFSK-1	brain:	n/a	n/a
48	UBTF	chr18:9102348-9103804	K562	blood:	n/a	n/a
49	POLR2A	chr18:9102317-9103393	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr18:9103235-9103875	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
2	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
3	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
4	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
5	chr18:9102444..9104093-chr18:9117938..9120762,2	MCF-7	breast:
6	chr18:9102683..9104324-chr18:9114737..9116344,2	MCF-7	breast:

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000263847	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1156044	0.85[ASN][1000 genomes]
rs11660603	0.84[ASN][1000 genomes]
rs1396740	0.93[ASN][1000 genomes]
rs2276095	0.89[ASN][1000 genomes]
rs2377960	0.83[ASN][1000 genomes]
rs4148965	0.91[ASN][1000 genomes]
rs4798770	0.83[ASN][1000 genomes]
rs4798771	0.91[ASN][1000 genomes]
rs6506640	0.83[ASN][1000 genomes]
rs7227910	0.83[ASN][1000 genomes]
rs8083078	0.80[ASN][1000 genomes]
rs874250	0.91[ASN][1000 genomes]
rs906807	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9101400-9103600	Active TSS	Brain Angular Gyrus	brain
2	chr18:9101400-9103600	Active TSS	Hela-S3	cervix
3	chr18:9101400-9103800	Active TSS	Liver	Liver
4	chr18:9101400-9104000	Active TSS	GM12878-XiMat	blood
5	chr18:9101600-9103400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:9101600-9103600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr18:9101600-9103600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:9101600-9103600	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr18:9101600-9103600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr18:9101600-9103800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:9101600-9104000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:9101600-9104000	Active TSS	Brain Anterior Caudate	brain
13	chr18:9101600-9104200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:9101600-9104200	Active TSS	NHDF-Ad	bronchial
15	chr18:9101600-9104600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:9101600-9104600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:9101600-9105000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr18:9101600-9105400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:9101600-9106000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:9101600-9106000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:9101600-9106400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:9101800-9103400	Active TSS	Primary T cells from cord blood	blood
23	chr18:9101800-9103600	Active TSS	Brain Substantia Nigra	brain
24	chr18:9101800-9103600	Active TSS	K562	blood
25	chr18:9101800-9103800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr18:9101800-9103800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr18:9101800-9103800	Active TSS	Brain Germinal Matrix	brain
28	chr18:9101800-9104000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr18:9101800-9104000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:9101800-9104000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr18:9101800-9104000	Active TSS	Stomach Mucosa	stomach
32	chr18:9101800-9104000	Active TSS	Stomach Smooth Muscle	stomach
33	chr18:9101800-9104000	Active TSS	HSMM	muscle
34	chr18:9101800-9104200	Active TSS	Placenta	Placenta
35	chr18:9101800-9104200	Active TSS	Psoas Muscle	Psoas
36	chr18:9101800-9104200	Bivalent/Poised TSS	HepG2	liver
37	chr18:9101800-9104400	Active TSS	A549	lung
38	chr18:9101800-9104600	Active TSS	Fetal Muscle Trunk	muscle
39	chr18:9101800-9104800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:9101800-9104800	Active TSS	Fetal Intestine Large	intestine
41	chr18:9101800-9104800	Active TSS	Fetal Intestine Small	intestine
42	chr18:9101800-9105000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:9101800-9105200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr18:9101800-9105400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:9101800-9105400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr18:9101800-9106000	Active TSS	Aorta	Aorta
47	chr18:9101800-9106000	Active TSS	Right Atrium	heart
48	chr18:9101800-9106600	Active TSS	NHLF	lung
49	chr18:9102000-9103400	Active TSS	Fetal Brain Female	brain
50	chr18:9102000-9103400	Active TSS	Gastric	stomach

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