Variant report

Variant	rs4717218
Chromosome Location	chr7:64300448-64300449
allele	C/T
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:2)
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	HEY1	chr7:64295999-64300505	K562	blood:	n/a	n/a
2	MAFK	chr7:64300303-64300667	IMR90	lung:	n/a	chr7:64300470-64300485
3	MAFF	chr7:64300303-64300663	HepG2	liver:	n/a	chr7:64300468-64300486
4	MAFF	chr7:64300304-64300658	K562	blood:	n/a	chr7:64300468-64300486
5	MAFK	chr7:64300306-64300654	K562	blood:	n/a	chr7:64300470-64300485
6	MAFK	chr7:64300296-64300665	HepG2	liver:	n/a	chr7:64300470-64300485
7	MAFK	chr7:64300306-64300651	HepG2	liver:	n/a	chr7:64300470-64300485
8	MAFK	chr7:64300312-64300619	Hela-S3	cervix:	n/a	chr7:64300470-64300485
9	MAFK	chr7:64300311-64300630	H1-hESC	embryonic stem cell:	n/a	chr7:64300470-64300485

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64300431-64300481	NH-A	brain:	n/a
2	chr7:64300431-64300481	CMK	blood:	n/a
3	chr7:64300431-64300481	HCM	heart:	n/a
4	chr7:64300431-64300481	AG09309	skin:	n/a
5	chr7:64300431-64300481	HEEpiC	esophagus:	n/a
6	chr7:64300431-64300481	SK-N-SH_RA	brain:	n/a
7	chr7:64300431-64300481	AG10803	skin:	n/a
8	chr7:64300431-64300481	NB4	blood:	n/a
9	chr7:64300431-64300481	HNPCEpiC	eye:	n/a
10	chr7:64300431-64300481	T-47D	breast:	n/a
11	chr7:64300431-64300481	IMR90	lung:	fetal
12	chr7:64300431-64300481	ProgFib	skin:	n/a
13	chr7:64300431-64300481	MCF10A-Er-Src	breast:	n/a
14	chr7:64300431-64300481	Caco-2	colon:	n/a
15	chr7:64300431-64300481	RPTEC	kidney:	n/a
16	chr7:64300431-64300481	BE2_C	brain:	n/a
17	chr7:64300431-64300481	SKMC	muscle:	n/a
18	chr7:64300431-64300481	Hepatocyte	liver:	n/a
19	chr7:64300431-64300481	HCT-116	colon:	n/a
20	chr7:64300431-64300481	GM12878	blood:	n/a
21	chr7:64300431-64300481	U87	brain:	n/a
22	chr7:64300431-64300481	GM12892	blood:	n/a
23	chr7:64300431-64300481	SK-N-SH	brain:	n/a
24	chr7:64300431-64300481	SAEC	small airway:	n/a
25	chr7:64300431-64300481	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:64300431-64300481	HepG2	liver:	n/a
27	chr7:64300431-64300481	HMEC	breast:	n/a
28	chr7:64300431-64300481	PrEC	prostate:	n/a
29	chr7:64300431-64300481	GM06990	blood:	n/a
30	chr7:64300431-64300481	MCF-7	breast:	n/a
31	chr7:64300431-64300481	Jurkat	blood:	n/a
32	chr7:64300431-64300481	HIPEpiC	eye:	n/a
33	chr7:64300431-64300481	HL-60	blood:	n/a
34	chr7:64300431-64300481	HUVEC	blood vessel:	n/a
35	chr7:64300431-64300481	ECC-1	luminal epithelium:	n/a
36	chr7:64300431-64300481	NHDF-neo	bronchial:	n/a
37	chr7:64300431-64300481	HCPEpiC	choroid plexus:	n/a
38	chr7:64300431-64300481	BJ	skin:	n/a
39	chr7:64300431-64300481	PANC-1	pancreas:	n/a
40	chr7:64300431-64300481	ovcar-3	ovarian:	n/a
41	chr7:64300431-64300481	HCF	heart:	n/a
42	chr7:64300431-64300481	A549	lung:	n/a
43	chr7:64300431-64300481	NHBE	bronchial:	n/a
44	chr7:64300431-64300481	AoSMC	blood vessel:	n/a
45	chr7:64300431-64300481	H1-hESC	embryonic stem cell:	embryo
46	chr7:64300431-64300481	GM12891	blood:	n/a
47	chr7:64300431-64300481	AG04450	lung:	fetal
48	chr7:64300431-64300481	GM19239	blood:	n/a
49	chr7:64300431-64300481	AG04449	skin:	fetal
50	chr7:64300431-64300481	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234338	TF binding region
ENSG00000234338	CpG island
ENSG00000234722	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10236712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236731	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255015	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255285	1.00[AMR][1000 genomes]
rs10266341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266823	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266953	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267592	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282236	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979200	0.82[AFR][1000 genomes]
rs12155450	1.00[AMR][1000 genomes]
rs12671429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13237903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13247714	1.00[AMR][1000 genomes]
rs1464925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1464926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1525811	1.00[AMR][1000 genomes]
rs1568913	0.83[AFR][1000 genomes]
rs1815165	0.97[AFR][1000 genomes]
rs1815168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1852205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1852206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1976918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2015938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418462	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983288	0.94[AFR][1000 genomes]
rs3983289	0.94[AFR][1000 genomes]
rs4236203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4429995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4483043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4579410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4613867	0.86[AFR][1000 genomes]
rs4639394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717214	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717215	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718117	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718119	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718120	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718134	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718137	1.00[AFR][1000 genomes]
rs55960866	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460187	1.00[AMR][1000 genomes]
rs6460188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460190	1.00[AMR][1000 genomes]
rs6460191	0.97[AFR][1000 genomes]
rs6460193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6942695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943322	1.00[AMR][1000 genomes]
rs6943573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951133	1.00[AMR][1000 genomes]
rs6951316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956506	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6957671	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6964400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6965217	1.00[AMR][1000 genomes]
rs6971507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6976049	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6976060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7789308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7790245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791652	1.00[AFR][1000 genomes]
rs7791673	0.83[AFR][1000 genomes]
rs7791951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7799440	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809431	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810921	1.00[AMR][1000 genomes]
rs9654821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654823	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654824	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9718984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv15396	chr7:64295355-64301341	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv607313	chr7:64298329-64300612	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv607314	chr7:64298527-64300612	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:64300000-64301200	Weak transcription	Pancreas	Pancrea
4	chr7:64300200-64301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:64300200-64310000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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