Variant report

Variant	rs73414289
Chromosome Location	chr18:29079200-29079201
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr18:29079176-29079557	GM12878	blood:	n/a	n/a
2	CEBPB	chr18:29079046-29079498	K562	blood:	n/a	n/a
3	CEBPB	chr18:29079040-29079328	HepG2	liver:	n/a	n/a
4	MAX	chr18:29079058-29079616	A549	lung:	n/a	n/a
5	MAZ	chr18:29079192-29079426	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:29079023-29079677	GM12892	blood:	n/a	n/a
7	ZNF384	chr18:29079093-29079202	GM12878	blood:	n/a	n/a
8	CHD2	chr18:29079049-29079450	K562	blood:	n/a	n/a
9	RCOR1	chr18:29078974-29079580	K562	blood:	n/a	n/a
10	TBL1XR1	chr18:29078742-29079418	K562	blood:	n/a	n/a
11	STAT3	chr18:29078758-29079414	MCF10A-Er-Src	breast:	n/a	n/a
12	JUN	chr18:29079191-29079546	K562	blood:	n/a	n/a
13	FOS	chr18:29079170-29079337	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr18:29078988-29079417	HepG2	liver:	n/a	n/a
15	POLR2A	chr18:29079163-29079446	HepG2	liver:	n/a	n/a
16	POLR2A	chr18:29077611-29079895	K562	blood:	n/a	n/a
17	POLR2A	chr18:29078940-29079525	GM12892	blood:	n/a	n/a
18	E2F6	chr18:29079107-29079363	K562	blood:	n/a	n/a
19	IRF1	chr18:29078794-29079448	K562	blood:	n/a	chr18:29078962-29078976 chr18:29079038-29079050
20	MAX	chr18:29079192-29079602	K562	blood:	n/a	n/a
21	MYC	chr18:29078988-29079502	K562	blood:	n/a	n/a
22	EP300	chr18:29079169-29079468	K562	blood:	n/a	n/a
23	STAT3	chr18:29079172-29079359	MCF10A-Er-Src	breast:	n/a	n/a
24	SIN3A	chr18:29077463-29079406	H1-hESC	embryonic stem cell:	n/a	chr18:29077678-29077689
25	POLR2A	chr18:29077469-29079507	Hela-S3	cervix:	n/a	n/a
26	MYC	chr18:29077498-29079533	K562	blood:	n/a	chr18:29078958-29078967
27	CHD1	chr18:29079036-29079462	GM12878	blood:	n/a	n/a
28	STAT3	chr18:29079029-29079282	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr18:29078921-29079672	GM12878	blood:	n/a	n/a
30	POLR2A	chr18:29077774-29079379	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr18:29077957-29080769	GM12878	blood:	n/a	n/a
32	POLR2A	chr18:29079038-29079613	HepG2	liver:	n/a	n/a
33	TBP	chr18:29077361-29079535	K562	blood:	n/a	n/a
34	E2F6	chr18:29079196-29079442	K562	blood:	n/a	n/a
35	TBP	chr18:29079028-29079479	GM12878	blood:	n/a	n/a
36	ELK1	chr18:29079103-29079265	GM12878	blood:	n/a	n/a
37	POLR2A	chr18:29078951-29079667	GM12892	blood:	n/a	n/a
38	ARID3A	chr18:29079137-29079444	HepG2	liver:	n/a	chr18:29079218-29079234
39	E2F6	chr18:29079147-29079551	K562	blood:	n/a	n/a
40	MXI1	chr18:29079191-29079460	K562	blood:	n/a	n/a
41	CUX1	chr18:29079093-29079460	K562	blood:	n/a	n/a
42	MAZ	chr18:29077513-29079633	K562	blood:	n/a	chr18:29078958-29078967
43	POLR2A	chr18:29079076-29079207	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29078512..29082072-chr18:29089360..29094851,6	K562	blood:
2	chr18:28932546..28935472-chr18:29078101..29080400,2	K562	blood:
3	chr18:29075380..29078244-chr18:29078711..29080640,2	MCF-7	breast:
4	chr18:29065171..29067797-chr18:29078950..29080712,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266521	TF binding region
ENSG00000046604	Chromatin interaction
ENSG00000266521	Chromatin interaction
ENSG00000266729	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10502571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2704054	1.00[ASN][1000 genomes]
rs56848605	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047618	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59665004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59698374	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416205	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093731	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29077200-29079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr18:29077200-29079600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr18:29077200-29079800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:29077200-29080200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:29077200-29080200	Active TSS	Duodenum Mucosa	Duodenum
6	chr18:29077400-29079200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:29077400-29079200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:29077400-29079200	Active TSS	Fetal Intestine Large	intestine
9	chr18:29077400-29079200	Active TSS	Hela-S3	cervix
10	chr18:29077400-29079200	Active TSS	NH-A	brain
11	chr18:29077400-29079400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:29077400-29079400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:29077400-29079400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr18:29077400-29079400	Active TSS	Fetal Brain Female	brain
15	chr18:29077400-29079400	Active TSS	Left Ventricle	heart
16	chr18:29077400-29079400	Active TSS	Pancreas	Pancrea
17	chr18:29077400-29079400	Active TSS	Stomach Mucosa	stomach
18	chr18:29077400-29079600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr18:29077400-29079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:29077400-29079600	Active TSS	Fetal Intestine Small	intestine
21	chr18:29077400-29079600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr18:29077400-29079600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr18:29077400-29079600	Active TSS	Right Ventricle	heart
24	chr18:29077400-29079800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr18:29077400-29080200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:29077400-29080200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr18:29077400-29080400	Active TSS	Rectal Smooth Muscle	rectum
28	chr18:29077400-29080600	Active TSS	GM12878-XiMat	blood
29	chr18:29077600-29079200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr18:29077600-29079200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr18:29077600-29079200	Active TSS	Ovary	ovary
32	chr18:29077600-29079200	Bivalent/Poised TSS	Small Intestine	intestine
33	chr18:29077600-29079200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr18:29077600-29079400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:29077600-29079400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:29077600-29079400	Active TSS	A549	lung
37	chr18:29077600-29079400	Active TSS	K562	blood
38	chr18:29077600-29079600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr18:29077600-29080200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr18:29077600-29080200	Active TSS	Colonic Mucosa	Colon
41	chr18:29077800-29079200	Active TSS	Fetal Lung	lung
42	chr18:29077800-29079200	Active TSS	NHEK	skin
43	chr18:29077800-29079400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr18:29077800-29079600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:29078000-29079400	Active TSS	HMEC	breast
46	chr18:29078200-29079200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr18:29078200-29079600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr18:29078200-29079600	Active TSS	Fetal Kidney	kidney
49	chr18:29078400-29079200	Active TSS	Fetal Heart	heart
50	chr18:29078400-29079200	Active TSS	Placenta	Placenta

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