Variant report

Variant	rs9369926
Chromosome Location	chr6:49917264-49917265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr6:49916800-49918531	K562	blood:	n/a	n/a
2	TEAD4	chr6:49916854-49917480	K562	blood:	n/a	n/a
3	TBP	chr6:49916833-49918259	K562	blood:	n/a	n/a
4	ARID3A	chr6:49916784-49917409	K562	blood:	n/a	chr6:49916881-49916897

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:49917254-49917304	CMK	blood:	n/a
2	chr6:49917254-49917304	BJ	skin:	n/a
3	chr6:49917254-49917304	HCT-116	colon:	n/a
4	chr6:49917254-49917304	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:49917254-49917304	HCPEpiC	choroid plexus:	n/a
6	chr6:49917254-49917304	HL-60	blood:	n/a
7	chr6:49917254-49917304	HUVEC	blood vessel:	n/a
8	chr6:49917254-49917304	PANC-1	pancreas:	n/a
9	chr6:49917254-49917304	SKMC	muscle:	n/a
10	chr6:49917254-49917304	HCF	heart:	n/a
11	chr6:49917254-49917304	HRCEpiC	kidney:	n/a
12	chr6:49917254-49917304	Caco-2	colon:	n/a
13	chr6:49917254-49917304	SAEC	small airway:	n/a
14	chr6:49917254-49917304	SK-N-MC	brain:	n/a
15	chr6:49917254-49917304	T-47D	breast:	n/a
16	chr6:49917254-49917304	AG04450	lung:	fetal
17	chr6:49917254-49917304	MCF-7	breast:	n/a
18	chr6:49917254-49917304	BE2_C	brain:	n/a
19	chr6:49917254-49917304	HRPEpiC	eye:	n/a
20	chr6:49917254-49917304	NHBE	bronchial:	n/a
21	chr6:49917254-49917304	GM19239	blood:	n/a
22	chr6:49917254-49917304	PrEC	prostate:	n/a
23	chr6:49917254-49917304	AG10803	skin:	n/a
24	chr6:49917254-49917304	HAEpiC	amniotic membrane:	n/a
25	chr6:49917254-49917304	HMEC	breast:	n/a
26	chr6:49917254-49917304	NB4	blood:	n/a
27	chr6:49917254-49917304	K562	blood:	n/a
28	chr6:49917254-49917304	GM12891	blood:	n/a
29	chr6:49917254-49917304	RPTEC	kidney:	n/a
30	chr6:49917254-49917304	ECC-1	luminal epithelium:	n/a
31	chr6:49917254-49917304	HRE	kidney:	n/a
32	chr6:49917254-49917304	AG09309	skin:	n/a
33	chr6:49917254-49917304	SK-N-SH_RA	brain:	n/a
34	chr6:49917254-49917304	ProgFib	skin:	n/a
35	chr6:49917254-49917304	ovcar-3	ovarian:	n/a
36	chr6:49917254-49917304	GM06990	blood:	n/a
37	chr6:49917254-49917304	HepG2	liver:	n/a
38	chr6:49917254-49917304	GM12878	blood:	n/a
39	chr6:49917254-49917304	AoSMC	blood vessel:	n/a
40	chr6:49917254-49917304	HCM	heart:	n/a
41	chr6:49917254-49917304	LNCaP	prostate:	n/a
42	chr6:49917254-49917304	Jurkat	blood:	n/a
43	chr6:49917254-49917304	IMR90	lung:	fetal
44	chr6:49917254-49917304	AG09319	gingival:	n/a
45	chr6:49917254-49917304	Hela-S3	cervix:	n/a
46	chr6:49917254-49917304	SK-N-SH	brain:	n/a
47	chr6:49917254-49917304	U87	brain:	n/a
48	chr6:49917254-49917304	NHDF-neo	bronchial:	n/a
49	chr6:49917254-49917304	PFSK-1	brain:	n/a
50	chr6:49917254-49917304	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
DEFB133	TF binding region
DEFB133	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12197158	0.89[ASN][1000 genomes]
rs12200124	0.93[ASN][1000 genomes]
rs12203532	0.89[ASN][1000 genomes]
rs1337820	0.93[ASN][1000 genomes]
rs1337821	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1337822	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1415732	0.92[ASN][1000 genomes]
rs1535933	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1538193	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1953699	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1970303	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2039692	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147409	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147410	0.92[ASN][1000 genomes]
rs2181910	0.91[ASN][1000 genomes]
rs34235414	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3900863	0.95[ASN][1000 genomes]
rs4236101	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711937	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711938	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715151	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715152	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715164	0.93[ASN][1000 genomes]
rs4715165	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458719	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927196	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7743942	0.90[ASN][1000 genomes]
rs7747376	0.90[ASN][1000 genomes]
rs7754156	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7766636	0.93[ASN][1000 genomes]
rs7776086	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7776352	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349509	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357636	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357638	0.94[ASN][1000 genomes]
rs9357639	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357641	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9367379	0.93[ASN][1000 genomes]
rs9367380	0.93[ASN][1000 genomes]
rs9369924	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369928	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381833	0.93[ASN][1000 genomes]
rs9395543	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9395544	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395547	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9395548	0.93[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	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv462944	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv603091	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49916200-49918400	Active TSS	K562	blood
2	chr6:49917000-49918200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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