Variant report

Variant	rs73727536
Chromosome Location	chr6:24357033-24357034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr6:24356428-24357209	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:24356562-24357130	A549	lung:	n/a	chr6:24356705-24356716
3	POLR2A	chr6:24356482-24357277	SK-N-MC	brain:	n/a	n/a
4	KAP1	chr6:24356645-24357436	U2OS	brain:	n/a	n/a
5	FOXA2	chr6:24356918-24357232	A549	lung:	n/a	n/a
6	EP300	chr6:24356788-24357344	A549	lung:	n/a	chr6:24357154-24357170
7	MAX	chr6:24356810-24358746	HepG2	liver:	n/a	n/a
8	TEAD4	chr6:24356372-24357366	HepG2	liver:	n/a	chr6:24356796-24356805
9	SP1	chr6:24356829-24357401	A549	lung:	n/a	chr6:24357159-24357173

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24356996-24357046	ECC-1	luminal epithelium:	n/a
2	chr6:24356996-24357046	HAEpiC	amniotic membrane:	n/a
3	chr6:24356996-24357046	NB4	blood:	n/a
4	chr6:24356996-24357046	ProgFib	skin:	n/a
5	chr6:24356996-24357046	GM12878	blood:	n/a
6	chr6:24356996-24357046	Jurkat	blood:	n/a
7	chr6:24356996-24357046	HRPEpiC	eye:	n/a
8	chr6:24356996-24357046	AG09319	gingival:	n/a
9	chr6:24356996-24357046	HL-60	blood:	n/a
10	chr6:24356996-24357046	NHBE	bronchial:	n/a
11	chr6:24356996-24357046	HRE	kidney:	n/a
12	chr6:24356996-24357046	SKMC	muscle:	n/a
13	chr6:24356996-24357046	Hela-S3	cervix:	n/a
14	chr6:24356996-24357046	HCT-116	colon:	n/a
15	chr6:24356996-24357046	PFSK-1	brain:	n/a
16	chr6:24356996-24357046	GM19239	blood:	n/a
17	chr6:24356996-24357046	HCF	heart:	n/a
18	chr6:24356996-24357046	SK-N-SH	brain:	n/a
19	chr6:24356996-24357046	BE2_C	brain:	n/a
20	chr6:24356996-24357046	MCF10A-Er-Src	breast:	n/a
21	chr6:24356996-24357046	HEEpiC	esophagus:	n/a
22	chr6:24356996-24357046	K562	blood:	n/a
23	chr6:24356996-24357046	GM06990	blood:	n/a
24	chr6:24356996-24357046	SK-N-SH_RA	brain:	n/a
25	chr6:24356996-24357046	GM12891	blood:	n/a
26	chr6:24356996-24357046	IMR90	lung:	fetal
27	chr6:24356996-24357046	NT2-D1	testis:	n/a
28	chr6:24356996-24357046	AoSMC	blood vessel:	n/a
29	chr6:24356996-24357046	HepG2	liver:	n/a
30	chr6:24356996-24357046	GM12892	blood:	n/a
31	chr6:24356996-24357046	AG04450	lung:	fetal
32	chr6:24356996-24357046	NHDF-neo	bronchial:	n/a
33	chr6:24356996-24357046	Caco-2	colon:	n/a
34	chr6:24356996-24357046	PrEC	prostate:	n/a
35	chr6:24356996-24357046	SAEC	small airway:	n/a
36	chr6:24356996-24357046	RPTEC	kidney:	n/a
37	chr6:24356996-24357046	LNCaP	prostate:	n/a
38	chr6:24356996-24357046	MCF-7	breast:	n/a
39	chr6:24356996-24357046	NH-A	brain:	n/a
40	chr6:24356996-24357046	Hepatocyte	liver:	n/a
41	chr6:24356996-24357046	HCM	heart:	n/a
42	chr6:24356996-24357046	AG09309	skin:	n/a
43	chr6:24356996-24357046	HCPEpiC	choroid plexus:	n/a
44	chr6:24356996-24357046	ovcar-3	ovarian:	n/a
45	chr6:24356996-24357046	HNPCEpiC	eye:	n/a
46	chr6:24356996-24357046	A549	lung:	n/a
47	chr6:24356996-24357046	AG04449	skin:	fetal
48	chr6:24356996-24357046	HMEC	breast:	n/a
49	chr6:24356996-24357046	HRCEpiC	kidney:	n/a
50	chr6:24356996-24357046	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
KAAG1	TF binding region
KAAG1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10085174	1.00[EUR][1000 genomes]
rs3747780	1.00[ASN][1000 genomes]
rs57322986	1.00[EUR][1000 genomes]
rs58118499	1.00[EUR][1000 genomes]
rs73391954	1.00[EUR][1000 genomes]
rs73391991	1.00[EUR][1000 genomes]
rs73394039	1.00[EUR][1000 genomes]
rs73394050	1.00[EUR][1000 genomes]
rs73725407	1.00[EUR][1000 genomes]
rs73725408	1.00[EUR][1000 genomes]
rs73727537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727539	1.00[ASN][1000 genomes]
rs73727541	1.00[EUR][1000 genomes]
rs73727546	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24341200-24357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:24353200-24358800	Active TSS	Fetal Kidney	kidney
3	chr6:24354200-24358800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:24354800-24358800	Active TSS	A549	lung
5	chr6:24355600-24357800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:24356600-24357600	Weak transcription	Gastric	stomach
7	chr6:24356800-24357400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:24356800-24357600	Active TSS	Pancreas	Pancrea
9	chr6:24356800-24358000	Active TSS	Fetal Intestine Large	intestine
10	chr6:24356800-24358400	Bivalent/Poised TSS	Fetal Lung	lung
11	chr6:24357000-24357200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:24357000-24357200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:24357000-24357200	Enhancers	Brain Anterior Caudate	brain
14	chr6:24357000-24357400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:24357000-24358200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:24357000-24358400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:24357000-24358400	Bivalent/Poised TSS	HepG2	liver
18	chr6:24357000-24358600	Active TSS	Fetal Intestine Small	intestine

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