Variant report

Variant	rs4723224
Chromosome Location	chr7:32995551-32995552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:32995514-32995564	HEK293	kidney:	embryo
2	chr7:32995514-32995564	Jurkat	blood:	n/a
3	chr7:32995514-32995564	NH-A	brain:	n/a
4	chr7:32995514-32995564	ovcar-3	ovarian:	n/a
5	chr7:32995514-32995564	HMEC	breast:	n/a
6	chr7:32995514-32995564	HUVEC	blood vessel:	n/a
7	chr7:32995514-32995564	RPTEC	kidney:	n/a
8	chr7:32995514-32995564	ECC-1	luminal epithelium:	n/a
9	chr7:32995514-32995564	PFSK-1	brain:	n/a
10	chr7:32995514-32995564	SK-N-SH	brain:	n/a
11	chr7:32995514-32995564	NT2-D1	testis:	n/a
12	chr7:32995514-32995564	HAEpiC	amniotic membrane:	n/a
13	chr7:32995514-32995564	BE2_C	brain:	n/a
14	chr7:32995514-32995564	Caco-2	colon:	n/a
15	chr7:32995514-32995564	HRCEpiC	kidney:	n/a
16	chr7:32995514-32995564	A549	lung:	n/a
17	chr7:32995514-32995564	PrEC	prostate:	n/a
18	chr7:32995514-32995564	HL-60	blood:	n/a
19	chr7:32995514-32995564	HCF	heart:	n/a
20	chr7:32995514-32995564	GM12878	blood:	n/a
21	chr7:32995514-32995564	H1-hESC	embryonic stem cell:	embryo
22	chr7:32995514-32995564	ProgFib	skin:	n/a
23	chr7:32995514-32995564	SKMC	muscle:	n/a
24	chr7:32995514-32995564	HCPEpiC	choroid plexus:	n/a
25	chr7:32995514-32995564	GM19239	blood:	n/a
26	chr7:32995514-32995564	T-47D	breast:	n/a
27	chr7:32995514-32995564	U87	brain:	n/a
28	chr7:32995514-32995564	HCM	heart:	n/a
29	chr7:32995514-32995564	SK-N-SH_RA	brain:	n/a
30	chr7:32995514-32995564	AG10803	skin:	n/a
31	chr7:32995514-32995564	HCT-116	colon:	n/a
32	chr7:32995514-32995564	GM06990	blood:	n/a
33	chr7:32995514-32995564	AoSMC	blood vessel:	n/a
34	chr7:32995514-32995564	K562	blood:	n/a
35	chr7:32995514-32995564	CMK	blood:	n/a
36	chr7:32995514-32995564	HNPCEpiC	eye:	n/a
37	chr7:32995514-32995564	SK-N-MC	brain:	n/a
38	chr7:32995514-32995564	GM12892	blood:	n/a
39	chr7:32995514-32995564	PANC-1	pancreas:	n/a
40	chr7:32995514-32995564	HRE	kidney:	n/a
41	chr7:32995514-32995564	BJ	skin:	n/a
42	chr7:32995514-32995564	NHDF-neo	bronchial:	n/a
43	chr7:32995514-32995564	HepG2	liver:	n/a
44	chr7:32995514-32995564	SAEC	small airway:	n/a
45	chr7:32995514-32995564	AG04449	skin:	fetal
46	chr7:32995514-32995564	AG09319	gingival:	n/a
47	chr7:32995514-32995564	HRPEpiC	eye:	n/a
48	chr7:32995514-32995564	HIPEpiC	eye:	n/a
49	chr7:32995514-32995564	MCF-7	breast:	n/a
50	chr7:32995514-32995564	AG04450	lung:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:32989917..32992556-chr7:32995431..32996943,2	K562	blood:
2	chr7:32928752..32933141-chr7:32994641..32998863,8	K562	blood:
3	chr7:32929772..32933437-chr7:32994773..32998551,6	MCF-7	breast:
4	chr7:32988824..32991717-chr7:32995412..32996950,2	MCF-7	breast:
5	chr7:32995362..32998530-chr7:33097317..33102837,7	MCF-7	breast:
6	chr11:73910737..73913251-chr7:32993964..32996194,2	MCF-7	breast:
7	chr7:32979720..32982452-chr7:32995227..32996993,2	MCF-7	breast:
8	chr7:32982489..32988008-chr7:32995538..32999914,10	MCF-7	breast:

No data

Variant related genes	Relation type
FKBP9	CpG island
ENSG00000122643	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000224573	Chromatin interaction
ENSG00000170852	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11771075	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13247369	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13311608	0.85[ASN][1000 genomes]
rs13437980	0.87[ASN][1000 genomes]
rs17356044	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2465899	0.85[ASN][1000 genomes]
rs2598304	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34556400	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750076	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3750077	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6970641	0.86[ASN][1000 genomes]
rs6970869	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7784449	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7786644	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7787304	0.82[EUR][1000 genomes]
rs7787645	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790246	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806466	0.82[ASN][1000 genomes]
rs7808290	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809397	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1033096	chr7:32965040-33039206	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr7:32988200-32996200	Weak transcription	Pancreas	Pancrea
2	chr7:32988600-32996400	Weak transcription	Liver	Liver
3	chr7:32991200-32996200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:32992800-32996200	Weak transcription	HepG2	liver
5	chr7:32995200-32996200	Weak transcription	Hela-S3	cervix

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