Variant report

Variant	rs1919810
Chromosome Location	chr7:53879758-53879759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
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	YY1	chr7:53879320-53879830	K562	blood:	n/a	n/a
2	JUND	chr7:53879113-53880177	K562	blood:	n/a	n/a
3	POLR2A	chr7:53879060-53879841	K562	blood:	n/a	n/a
4	HCFC1	chr7:53879260-53879799	K562	blood:	n/a	n/a
5	MYC	chr7:53879133-53880239	K562	blood:	n/a	n/a
6	POLR2A	chr7:53879134-53879899	K562	blood:	n/a	n/a
7	EP300	chr7:53879231-53879761	GM12878	blood:	n/a	n/a
8	YY1	chr7:53879183-53879848	K562	blood:	n/a	n/a
9	EGR1	chr7:53879555-53879803	K562	blood:	n/a	n/a
10	CCNT2	chr7:53879220-53879790	K562	blood:	n/a	n/a
11	IRF1	chr7:53879186-53880329	K562	blood:	n/a	n/a
12	TAF1	chr7:53879247-53879926	K562	blood:	n/a	n/a
13	IRF1	chr7:53879443-53879823	K562	blood:	n/a	n/a
14	ZNF143	chr7:53879584-53879891	K562	blood:	n/a	n/a
15	ZC3H11A	chr7:53879605-53879811	K562	blood:	n/a	n/a
16	POLR2A	chr7:53879143-53880168	K562	blood:	n/a	n/a
17	POLR2A	chr7:53879310-53879895	K562	blood:	n/a	n/a
18	YY1	chr7:53879266-53879810	K562	blood:	n/a	n/a
19	POLR2A	chr7:53879165-53879990	Gliobla	brain:	n/a	n/a
20	SP1	chr7:53879440-53879957	K562	blood:	n/a	n/a
21	PML	chr7:53879267-53879842	K562	blood:	n/a	n/a
22	HEY1	chr7:53879189-53879919	K562	blood:	n/a	n/a
23	E2F6	chr7:53879500-53879843	K562	blood:	n/a	n/a
24	POLR2A	chr7:53879053-53879967	K562	blood:	n/a	n/a
25	POLR2A	chr7:53879030-53879960	K562	blood:	n/a	n/a
26	CEBPB	chr7:53879553-53879905	K562	blood:	n/a	n/a
27	E2F6	chr7:53879145-53880018	K562	blood:	n/a	n/a
28	POLR2A	chr7:53879070-53879987	K562	blood:	n/a	n/a
29	NFYA	chr7:53879084-53879885	K562	blood:	n/a	n/a
30	RCOR1	chr7:53879131-53880308	K562	blood:	n/a	n/a
31	CHD2	chr7:53879367-53879877	K562	blood:	n/a	n/a
32	MAX	chr7:53879114-53879891	K562	blood:	n/a	n/a
33	POLR2A	chr7:53879144-53879922	K562	blood:	n/a	n/a
34	UBTF	chr7:53879145-53879819	K562	blood:	n/a	n/a
35	CEBPB	chr7:53879534-53880394	K562	blood:	n/a	n/a
36	GATA2	chr7:53879743-53880276	K562	blood:	n/a	n/a
37	HEY1	chr7:53879175-53879861	K562	blood:	n/a	n/a
38	MYC	chr7:53879096-53880172	K562	blood:	n/a	n/a
39	TBP	chr7:53879035-53879895	K562	blood:	n/a	n/a
40	MAX	chr7:53879211-53880154	K562	blood:	n/a	n/a
41	ZMIZ1	chr7:53879038-53879864	K562	blood:	n/a	n/a
42	EGR1	chr7:53879564-53879815	K562	blood:	n/a	n/a
43	POLR2A	chr7:53879085-53879976	K562	blood:	n/a	n/a
44	GTF2B	chr7:53879220-53879787	K562	blood:	n/a	n/a
45	BHLHE40	chr7:53879156-53880313	K562	blood:	n/a	n/a
46	FOS	chr7:53879477-53879864	K562	blood:	n/a	n/a
47	MAZ	chr7:53879218-53880147	K562	blood:	n/a	n/a
48	POLR2A	chr7:53879051-53879983	K562	blood:	n/a	n/a
49	SP2	chr7:53879537-53879801	K562	blood:	n/a	n/a
50	GTF3C2	chr7:53879303-53880171	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:53879728-53879778	ovcar-3	ovarian:	n/a
2	chr7:53879728-53879778	HCPEpiC	choroid plexus:	n/a
3	chr7:53879728-53879778	RPTEC	kidney:	n/a
4	chr7:53879728-53879778	HCF	heart:	n/a
5	chr7:53879728-53879778	T-47D	breast:	n/a
6	chr7:53879728-53879778	GM12892	blood:	n/a
7	chr7:53879728-53879778	SAEC	small airway:	n/a
8	chr7:53879728-53879778	ProgFib	skin:	n/a
9	chr7:53879728-53879778	AoSMC	blood vessel:	n/a
10	chr7:53879728-53879778	HIPEpiC	eye:	n/a
11	chr7:53879728-53879778	Hela-S3	cervix:	n/a
12	chr7:53879728-53879778	K562	blood:	n/a
13	chr7:53879728-53879778	MCF-7	breast:	n/a
14	chr7:53879728-53879778	HCM	heart:	n/a
15	chr7:53879728-53879778	SKMC	muscle:	n/a
16	chr7:53879728-53879778	PrEC	prostate:	n/a
17	chr7:53879728-53879778	AG09309	skin:	n/a
18	chr7:53879728-53879778	U87	brain:	n/a
19	chr7:53879728-53879778	HRE	kidney:	n/a
20	chr7:53879728-53879778	HAEpiC	amniotic membrane:	n/a
21	chr7:53879728-53879778	Caco-2	colon:	n/a
22	chr7:53879728-53879778	GM12891	blood:	n/a
23	chr7:53879728-53879778	LNCaP	prostate:	n/a
24	chr7:53879728-53879778	NB4	blood:	n/a
25	chr7:53879728-53879778	SK-N-SH_RA	brain:	n/a
26	chr7:53879728-53879778	BJ	skin:	n/a
27	chr7:53879728-53879778	PFSK-1	brain:	n/a
28	chr7:53879728-53879778	HMEC	breast:	n/a
29	chr7:53879728-53879778	HEK293	kidney:	embryo
30	chr7:53879728-53879778	Jurkat	blood:	n/a
31	chr7:53879728-53879778	H1-hESC	embryonic stem cell:	embryo
32	chr7:53879728-53879778	NHDF-neo	bronchial:	n/a
33	chr7:53879728-53879778	BE2_C	brain:	n/a
34	chr7:53879728-53879778	HCT-116	colon:	n/a
35	chr7:53879728-53879778	IMR90	lung:	fetal
36	chr7:53879728-53879778	AG04449	skin:	fetal
37	chr7:53879728-53879778	MCF10A-Er-Src	breast:	n/a
38	chr7:53879728-53879778	NT2-D1	testis:	n/a
39	chr7:53879728-53879778	A549	lung:	n/a
40	chr7:53879728-53879778	HRPEpiC	eye:	n/a
41	chr7:53879728-53879778	CMK	blood:	n/a
42	chr7:53879728-53879778	GM19239	blood:	n/a
43	chr7:53879728-53879778	AG10803	skin:	n/a
44	chr7:53879728-53879778	HEEpiC	esophagus:	n/a
45	chr7:53879728-53879778	HUVEC	blood vessel:	n/a
46	chr7:53879728-53879778	PANC-1	pancreas:	n/a
47	chr7:53879728-53879778	HepG2	liver:	n/a
48	chr7:53879728-53879778	NH-A	brain:	n/a
49	chr7:53879728-53879778	AG04450	lung:	fetal
50	chr7:53879728-53879778	GM06990	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000205628	TF binding region
ENSG00000205628	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1110241	0.83[AMR][1000 genomes]
rs1110242	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12530813	0.84[EUR][1000 genomes]
rs12718817	1.00[YRI][hapmap]
rs13230296	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13234436	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1569250	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17669013	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1919801	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1919802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7793238	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948546	chr7:53538304-54337148	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831006	chr7:53769412-53930274	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv888047	chr7:53813283-54031396	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:53877200-53880200	Active TSS	K562	blood
2	chr7:53879000-53880000	Active TSS	Placenta	Placenta

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