Variant report

Variant	rs62086115
Chromosome Location	chr18:9476535-9476536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr18:9476336-9476657	K562	blood:	n/a	n/a
2	MXI1	chr18:9474420-9476815	IMR90	lung:	n/a	n/a
3	ELF1	chr18:9476343-9476630	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:9474404-9476654	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr18:9476443-9476592	MCF10A-Er-Src	breast:	n/a	n/a
6	BHLHE40	chr18:9476330-9476592	K562	blood:	n/a	n/a
7	UBTF	chr18:9476362-9476541	K562	blood:	n/a	n/a
8	SPI1	chr18:9476272-9476651	GM12891	blood:	n/a	chr18:9476417-9476424
9	WRNIP1	chr18:9476139-9476586	GM12878	blood:	n/a	n/a
10	STAT1	chr18:9476525-9476666	GM12878	blood:	n/a	n/a
11	MXI1	chr18:9473591-9476846	SK-N-SH	brain:	n/a	n/a
12	MYC	chr18:9476346-9476759	K562	blood:	n/a	n/a
13	SPI1	chr18:9476376-9476580	GM12878	blood:	n/a	chr18:9476417-9476424
14	SPI1	chr18:9476359-9476581	K562	blood:	n/a	chr18:9476417-9476424
15	ELF1	chr18:9476366-9476597	HepG2	liver:	n/a	n/a
16	HCFC1	chr18:9474333-9476749	Hela-S3	cervix:	n/a	n/a
17	MAX	chr18:9476374-9476598	GM12878	blood:	n/a	n/a
18	SIN3A	chr18:9474198-9476607	H1-hESC	embryonic stem cell:	n/a	chr18:9475962-9475975
19	ELK1	chr18:9476324-9476554	GM12878	blood:	n/a	n/a
20	POLR2A	chr18:9474667-9476761	HL-60	blood:	n/a	n/a
21	STAT3	chr18:9476242-9476719	GM12878	blood:	n/a	n/a
22	SPI1	chr18:9476246-9476676	HL-60	blood:	n/a	chr18:9476417-9476424
23	POLR2A	chr18:9474431-9476657	GM12892	blood:	n/a	n/a
24	POLR2A	chr18:9474623-9476799	PBDE	blood:	n/a	n/a
25	MAX	chr18:9474517-9476629	K562	blood:	n/a	n/a
26	MXI1	chr18:9474844-9476642	GM12878	blood:	n/a	n/a
27	MYC	chr18:9474811-9476602	NB4	blood:	n/a	n/a
28	ELF1	chr18:9476243-9476655	K562	blood:	n/a	n/a
29	BHLHE40	chr18:9474796-9476645	GM12878	blood:	n/a	n/a
30	POLR2A	chr18:9473953-9476669	MCF10A-Er-Src	breast:	n/a	n/a
31	ESRRA	chr18:9474854-9477054	GM12878	blood:	n/a	chr18:9476038-9476057
32	PML	chr18:9474640-9476808	GM12878	blood:	n/a	n/a
33	POLR2A	chr18:9474132-9476809	GM12891	blood:	n/a	n/a
34	TBP	chr18:9476453-9476639	K562	blood:	n/a	n/a
35	RUNX3	chr18:9474746-9477029	GM12878	blood:	n/a	n/a
36	IRF1	chr18:9476315-9476728	K562	blood:	n/a	n/a
37	POLR2A	chr18:9474409-9476848	GM12878	blood:	n/a	n/a
38	RAD21	chr18:9474694-9476565	IMR90	lung:	n/a	chr18:9475572-9475585
39	MTA3	chr18:9475600-9476717	GM12878	blood:	n/a	n/a
40	CHD2	chr18:9476499-9476693	GM12878	blood:	n/a	n/a
41	EP300	chr18:9476174-9476769	GM12878	blood:	n/a	chr18:9476726-9476740
42	POLR2A	chr18:9476342-9476535	GM12878	blood:	n/a	n/a
43	TBP	chr18:9476310-9476740	GM12878	blood:	n/a	n/a
44	ZNF263	chr18:9474565-9476828	HEK293-T-REx	kidney:	n/a	chr18:9475477-9475486
45	SPI1	chr18:9476173-9476799	HL-60	blood:	n/a	chr18:9476417-9476424
46	NFIC	chr18:9476081-9477020	GM12878	blood:	n/a	n/a
47	CHD1	chr18:9474957-9476776	GM12878	blood:	n/a	chr18:9475475-9475485 chr18:9476161-9476168
48	RCOR1	chr18:9476477-9476748	GM12878	blood:	n/a	n/a
49	POLR2A	chr18:9476331-9476655	GM12892	blood:	n/a	n/a
50	JUND	chr18:9476171-9476589	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9476516-9476566	RPTEC	kidney:	n/a
2	chr18:9476516-9476566	HRPEpiC	eye:	n/a
3	chr18:9476516-9476566	HCF	heart:	n/a
4	chr18:9476516-9476566	SK-N-MC	brain:	n/a
5	chr18:9476516-9476566	ProgFib	skin:	n/a
6	chr18:9476516-9476566	Hepatocyte	liver:	n/a
7	chr18:9476516-9476566	HCT-116	colon:	n/a
8	chr18:9476516-9476566	HCM	heart:	n/a
9	chr18:9476516-9476566	AG04449	skin:	fetal
10	chr18:9476516-9476566	CMK	blood:	n/a
11	chr18:9476516-9476566	NH-A	brain:	n/a
12	chr18:9476516-9476566	SKMC	muscle:	n/a
13	chr18:9476516-9476566	GM12892	blood:	n/a
14	chr18:9476516-9476566	H1-hESC	embryonic stem cell:	embryo
15	chr18:9476516-9476566	Hela-S3	cervix:	n/a
16	chr18:9476516-9476566	AG04450	lung:	fetal
17	chr18:9476516-9476566	ovcar-3	ovarian:	n/a
18	chr18:9476516-9476566	GM19239	blood:	n/a
19	chr18:9476516-9476566	HIPEpiC	eye:	n/a
20	chr18:9476516-9476566	A549	lung:	n/a
21	chr18:9476516-9476566	HMEC	breast:	n/a
22	chr18:9476516-9476566	SAEC	small airway:	n/a
23	chr18:9476516-9476566	SK-N-SH	brain:	n/a
24	chr18:9476516-9476566	GM12891	blood:	n/a
25	chr18:9476516-9476566	HPAEpiC	pulmonary alveolar:	n/a
26	chr18:9476516-9476566	HNPCEpiC	eye:	n/a
27	chr18:9476516-9476566	Jurkat	blood:	n/a
28	chr18:9476516-9476566	GM12878	blood:	n/a
29	chr18:9476516-9476566	MCF-7	breast:	n/a
30	chr18:9476516-9476566	AoSMC	blood vessel:	n/a
31	chr18:9476516-9476566	HEK293	kidney:	embryo
32	chr18:9476516-9476566	SK-N-SH_RA	brain:	n/a
33	chr18:9476516-9476566	LNCaP	prostate:	n/a
34	chr18:9476516-9476566	HEEpiC	esophagus:	n/a
35	chr18:9476516-9476566	IMR90	lung:	fetal
36	chr18:9476516-9476566	Caco-2	colon:	n/a
37	chr18:9476516-9476566	AG09309	skin:	n/a
38	chr18:9476516-9476566	HepG2	liver:	n/a
39	chr18:9476516-9476566	NHBE	bronchial:	n/a
40	chr18:9476516-9476566	PrEC	prostate:	n/a
41	chr18:9476516-9476566	AG10803	skin:	n/a
42	chr18:9476516-9476566	PFSK-1	brain:	n/a
43	chr18:9476516-9476566	K562	blood:	n/a
44	chr18:9476516-9476566	MCF10A-Er-Src	breast:	n/a
45	chr18:9476516-9476566	ECC-1	luminal epithelium:	n/a
46	chr18:9476516-9476566	NT2-D1	testis:	n/a
47	chr18:9476516-9476566	HRE	kidney:	n/a
48	chr18:9476516-9476566	T-47D	breast:	n/a
49	chr18:9476516-9476566	HUVEC	blood vessel:	n/a
50	chr18:9476516-9476566	HL-60	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
2	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
3	chr18:9476151..9478353-chr18:9485460..9487930,2	MCF-7	breast:
4	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
5	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
6	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273335	TF binding region
ENSG00000273335	CpG island
ENSG00000128791	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000264964	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs2277709	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2840354	0.83[ASN][1000 genomes]
rs3786174	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57539299	0.83[ASN][1000 genomes]
rs58982927	0.83[ASN][1000 genomes]
rs59114729	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59992205	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60290408	0.81[ASN][1000 genomes]
rs61166388	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086114	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086119	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086120	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086121	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086146	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086147	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086151	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086152	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086155	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086156	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086158	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086159	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087363	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087368	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087370	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087371	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087372	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087378	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087402	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087403	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087404	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087406	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087407	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087411	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087412	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087414	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087415	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087416	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087417	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087427	0.81[ASN][1000 genomes]
rs7237018	0.83[ASN][1000 genomes]
rs72636719	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73393856	0.85[AFR][1000 genomes]
rs73393877	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393880	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395717	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395719	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894757	1.00[EUR][1000 genomes];0.93[ASN][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	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
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr18:9474000-9477000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr18:9474000-9477000	Active TSS	Right Ventricle	heart
3	chr18:9474200-9476600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:9474200-9476600	Active TSS	Rectal Smooth Muscle	rectum
5	chr18:9474200-9476800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr18:9474200-9476800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr18:9474400-9476600	Active TSS	Aorta	Aorta
8	chr18:9474400-9476800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr18:9474400-9476800	Active TSS	Colonic Mucosa	Colon
10	chr18:9474400-9476800	Active TSS	Ovary	ovary
11	chr18:9474400-9477000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:9474600-9476600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:9474600-9476600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:9474600-9476600	Active TSS	Gastric	stomach
15	chr18:9474600-9476600	Active TSS	Placenta Amnion	Placenta Amnion
16	chr18:9474600-9476600	Active TSS	Stomach Mucosa	stomach
17	chr18:9474600-9476800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:9474600-9476800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr18:9474600-9476800	Active TSS	Psoas Muscle	Psoas
20	chr18:9474600-9477000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr18:9474600-9477000	Active TSS	Esophagus	oesophagus
22	chr18:9474600-9477000	Active TSS	Fetal Kidney	kidney
23	chr18:9474600-9477000	Active TSS	NHDF-Ad	bronchial
24	chr18:9474600-9477200	Active TSS	Brain Germinal Matrix	brain
25	chr18:9474600-9477400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:9474800-9476600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:9474800-9476600	Active TSS	Colon Smooth Muscle	Colon
28	chr18:9474800-9476600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr18:9474800-9476600	Active TSS	Fetal Intestine Large	intestine
30	chr18:9474800-9476600	Active TSS	Fetal Stomach	stomach
31	chr18:9474800-9476600	Active TSS	Lung	lung
32	chr18:9474800-9476600	Active TSS	Pancreas	Pancrea
33	chr18:9474800-9476600	Active TSS	Thymus	Thymus
34	chr18:9474800-9476800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:9474800-9476800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:9474800-9476800	Active TSS	Fetal Intestine Small	intestine
37	chr18:9474800-9476800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr18:9474800-9476800	Active TSS	HSMMtube	muscle
39	chr18:9474800-9477000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:9474800-9477000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:9474800-9477000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:9474800-9477000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr18:9474800-9477000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:9474800-9477000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr18:9474800-9477000	Active TSS	HMEC	breast
46	chr18:9474800-9477000	Active TSS	K562	blood
47	chr18:9474800-9477000	Active TSS	NHLF	lung
48	chr18:9474800-9477000	Active TSS	Osteobl	bone
49	chr18:9474800-9477200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:9474800-9477200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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