Variant report

Variant	rs35002591
Chromosome Location	chr18:9103797-9103798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr18:9103063-9103893	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr18:9101558-9103877	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr18:9103462-9104292	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr18:9101762-9103826	Raji	blood:	n/a	n/a
5	PAX5	chr18:9103557-9103956	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:9101755-9104154	PBDE	blood:	n/a	n/a
7	MTA3	chr18:9101732-9104261	GM12878	blood:	n/a	n/a
8	PAX5	chr18:9103583-9103952	GM12878	blood:	n/a	n/a
9	IRF1	chr18:9103158-9103950	K562	blood:	n/a	n/a
10	MAZ	chr18:9101695-9103982	IMR90	lung:	n/a	n/a
11	POLR2A	chr18:9103792-9103881	HepG2	liver:	n/a	n/a
12	PAX5	chr18:9103633-9104021	GM12891	blood:	n/a	n/a
13	SMC3	chr18:9103486-9103801	Hela-S3	cervix:	n/a	n/a
14	EP300	chr18:9103118-9103886	GM12878	blood:	n/a	n/a
15	POLR2A	chr18:9101774-9104556	GM12878	blood:	n/a	n/a
16	GATA1	chr18:9102629-9103997	PBDE	blood:	n/a	n/a
17	POLR2A	chr18:9102154-9104063	HepG2	liver:	n/a	n/a
18	GATA3	chr18:9103565-9104188	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr18:9101613-9104658	IMR90	lung:	n/a	n/a
20	POLR2A	chr18:9102009-9104508	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr18:9103773-9104038	K562	blood:	n/a	n/a
22	CTCF	chr18:9103660-9103810	RPTEC	kidney:	n/a	n/a
23	CHD2	chr18:9103443-9103800	GM12878	blood:	n/a	n/a
24	RAD21	chr18:9103252-9103836	IMR90	lung:	n/a	n/a
25	PAX5	chr18:9103688-9103933	GM12878	blood:	n/a	n/a
26	POLR2A	chr18:9101525-9104962	HepG2	liver:	n/a	n/a
27	ELK1	chr18:9103538-9104051	GM12878	blood:	n/a	n/a
28	POLR2A	chr18:9103118-9104605	K562	blood:	n/a	n/a
29	POLR2A	chr18:9103121-9105207	HepG2	liver:	n/a	n/a
30	POLR2A	chr18:9101874-9104363	GM18505	blood:	n/a	n/a
31	TBL1XR1	chr18:9103726-9103920	GM12878	blood:	n/a	n/a
32	MXI1	chr18:9103741-9104074	K562	blood:	n/a	n/a
33	POLR2A	chr18:9101696-9103955	HL-60	blood:	n/a	n/a
34	RAD21	chr18:9103453-9103797	Hela-S3	cervix:	n/a	n/a
35	TEAD4	chr18:9101680-9104147	K562	blood:	n/a	n/a
36	PAX5	chr18:9103502-9104068	GM12878	blood:	n/a	n/a
37	UBTF	chr18:9102348-9103804	K562	blood:	n/a	n/a
38	POLR2A	chr18:9103235-9103875	HUVEC	blood vessel:	n/a	n/a
39	RCOR1	chr18:9103476-9103836	K562	blood:	n/a	n/a
40	POLR2A	chr18:9101789-9103813	GM19099	blood:	n/a	n/a
41	MXI1	chr18:9101518-9104225	IMR90	lung:	n/a	n/a
42	MAZ	chr18:9103331-9103850	GM12878	blood:	n/a	n/a
43	PAX5	chr18:9103560-9103977	GM12892	blood:	n/a	n/a
44	RAD21	chr18:9103319-9103920	HCT-116	colon:	n/a	n/a
45	HCFC1	chr18:9101476-9104112	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr18:9101616-9104645	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr18:9101620-9104641	GM12891	blood:	n/a	n/a
48	POLR2A	chr18:9101752-9104559	GM12878	blood:	n/a	n/a
49	EP300	chr18:9103406-9103824	GM12878	blood:	n/a	n/a
50	POLR2A	chr18:9101621-9104340	GM12892	blood:	n/a	n/a

No data

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

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:

No data

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10853373	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11081459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11081463	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11660889	0.84[AMR][1000 genomes]
rs11663175	0.84[AMR][1000 genomes]
rs11663949	0.81[AMR][1000 genomes]
rs11872481	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11875086	0.84[AMR][1000 genomes]
rs11876775	0.84[AMR][1000 genomes]
rs11876821	0.84[AMR][1000 genomes]
rs11877843	0.84[AMR][1000 genomes]
rs12454025	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12454908	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12454936	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12457266	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12457429	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12966444	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12966775	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12968060	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35587943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35774167	0.87[AMR][1000 genomes]
rs35849084	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41274300	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6506641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7226632	0.84[AMR][1000 genomes]
rs8085669	0.81[AMR][1000 genomes]
rs8090297	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8095601	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][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	chr18:9101400-9103800	Active TSS	Liver	Liver
2	chr18:9101400-9104000	Active TSS	GM12878-XiMat	blood
3	chr18:9101600-9103800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:9101600-9104000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:9101600-9104000	Active TSS	Brain Anterior Caudate	brain
6	chr18:9101600-9104200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9101600-9104200	Active TSS	NHDF-Ad	bronchial
8	chr18:9101600-9104600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:9101600-9104600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:9101600-9105000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr18:9101600-9105400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:9101600-9106000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:9101600-9106000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:9101600-9106400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:9101800-9103800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr18:9101800-9103800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr18:9101800-9103800	Active TSS	Brain Germinal Matrix	brain
18	chr18:9101800-9104000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr18:9101800-9104000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr18:9101800-9104000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr18:9101800-9104000	Active TSS	Stomach Mucosa	stomach
22	chr18:9101800-9104000	Active TSS	Stomach Smooth Muscle	stomach
23	chr18:9101800-9104000	Active TSS	HSMM	muscle
24	chr18:9101800-9104200	Active TSS	Placenta	Placenta
25	chr18:9101800-9104200	Active TSS	Psoas Muscle	Psoas
26	chr18:9101800-9104200	Bivalent/Poised TSS	HepG2	liver
27	chr18:9101800-9104400	Active TSS	A549	lung
28	chr18:9101800-9104600	Active TSS	Fetal Muscle Trunk	muscle
29	chr18:9101800-9104800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:9101800-9104800	Active TSS	Fetal Intestine Large	intestine
31	chr18:9101800-9104800	Active TSS	Fetal Intestine Small	intestine
32	chr18:9101800-9105000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:9101800-9105200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr18:9101800-9105400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:9101800-9105400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr18:9101800-9106000	Active TSS	Aorta	Aorta
37	chr18:9101800-9106000	Active TSS	Right Atrium	heart
38	chr18:9101800-9106600	Active TSS	NHLF	lung
39	chr18:9102000-9103800	Active TSS	Colonic Mucosa	Colon
40	chr18:9102000-9104000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:9102000-9104000	Active TSS	Fetal Muscle Leg	muscle
42	chr18:9102000-9104000	Active TSS	Fetal Thymus	thymus
43	chr18:9102000-9104200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr18:9102000-9104200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:9102000-9104200	Active TSS	Duodenum Mucosa	Duodenum
46	chr18:9102000-9104200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr18:9102000-9104400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:9102000-9104400	Active TSS	Esophagus	oesophagus
49	chr18:9102000-9104400	Active TSS	Lung	lung
50	chr18:9102000-9104600	Active TSS	Left Ventricle	heart

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