Variant report

Variant	rs327513
Chromosome Location	chr7:127256934-127256935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127256905-127256955	PrEC	prostate:	n/a
2	chr7:127256920-127256970	T-47D	breast:	n/a
3	chr7:127256905-127256955	NH-A	brain:	n/a
4	chr7:127256920-127256970	BE2_C	brain:	n/a
5	chr7:127256905-127256955	HRPEpiC	eye:	n/a
6	chr7:127256920-127256970	GM19239	blood:	n/a
7	chr7:127256905-127256955	CMK	blood:	n/a
8	chr7:127256920-127256970	HCM	heart:	n/a
9	chr7:127256905-127256955	HEK293	kidney:	embryo
10	chr7:127256920-127256970	MCF-7	breast:	n/a
11	chr7:127256905-127256955	BE2_C	brain:	n/a
12	chr7:127256905-127256955	GM12878	blood:	n/a
13	chr7:127256905-127256955	GM12892	blood:	n/a
14	chr7:127256920-127256970	U87	brain:	n/a
15	chr7:127256905-127256955	HCT-116	colon:	n/a
16	chr7:127256920-127256970	HAEpiC	amniotic membrane:	n/a
17	chr7:127256905-127256955	Caco-2	colon:	n/a
18	chr7:127256905-127256955	SK-N-SH_RA	brain:	n/a
19	chr7:127256905-127256955	MCF-7	breast:	n/a
20	chr7:127256920-127256970	AG09319	gingival:	n/a
21	chr7:127256905-127256955	GM19239	blood:	n/a
22	chr7:127256920-127256970	NB4	blood:	n/a
23	chr7:127256905-127256955	HMEC	breast:	n/a
24	chr7:127256905-127256955	AG04449	skin:	fetal
25	chr7:127256920-127256970	PrEC	prostate:	n/a
26	chr7:127256920-127256970	Caco-2	colon:	n/a
27	chr7:127256920-127256970	LNCaP	prostate:	n/a
28	chr7:127256905-127256955	HEEpiC	esophagus:	n/a
29	chr7:127256905-127256955	HepG2	liver:	n/a
30	chr7:127256920-127256970	IMR90	lung:	fetal
31	chr7:127256905-127256955	PFSK-1	brain:	n/a
32	chr7:127256905-127256955	GM06990	blood:	n/a
33	chr7:127256920-127256970	ovcar-3	ovarian:	n/a
34	chr7:127256920-127256970	HRE	kidney:	n/a
35	chr7:127256920-127256970	HIPEpiC	eye:	n/a
36	chr7:127256920-127256970	HL-60	blood:	n/a
37	chr7:127256905-127256955	AG04450	lung:	fetal
38	chr7:127256905-127256955	HRE	kidney:	n/a
39	chr7:127256920-127256970	HEK293	kidney:	embryo
40	chr7:127256920-127256970	HEEpiC	esophagus:	n/a
41	chr7:127256920-127256970	PFSK-1	brain:	n/a
42	chr7:127256905-127256955	H1-hESC	embryonic stem cell:	embryo
43	chr7:127256905-127256955	SK-N-MC	brain:	n/a
44	chr7:127256920-127256970	NH-A	brain:	n/a
45	chr7:127256905-127256955	AG10803	skin:	n/a
46	chr7:127256920-127256970	HCT-116	colon:	n/a
47	chr7:127256905-127256955	ECC-1	luminal epithelium:	n/a
48	chr7:127256920-127256970	HRPEpiC	eye:	n/a
49	chr7:127256905-127256955	HRCEpiC	kidney:	n/a
50	chr7:127256920-127256970	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
PAX4	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1372042	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs325441	1.00[AMR][1000 genomes]
rs391661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs676764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7804005	1.00[AMR][1000 genomes]
rs806182	0.89[AFR][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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127249800-127259600	Weak transcription	Pancreas	Pancrea

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