Variant report

Variant	rs6587668
Chromosome Location	chr1:152333958-152333959
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:1)
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	chr1:152333922-152333972	AG10803	skin:	n/a
2	chr1:152333922-152333972	HIPEpiC	eye:	n/a
3	chr1:152333922-152333972	HUVEC	blood vessel:	n/a
4	chr1:152333922-152333972	CMK	blood:	n/a
5	chr1:152333922-152333972	Hepatocyte	liver:	n/a
6	chr1:152333922-152333972	BE2_C	brain:	n/a
7	chr1:152333922-152333972	HCF	heart:	n/a
8	chr1:152333922-152333972	HEK293	kidney:	embryo
9	chr1:152333922-152333972	HRCEpiC	kidney:	n/a
10	chr1:152333922-152333972	ECC-1	luminal epithelium:	n/a
11	chr1:152333922-152333972	LNCaP	prostate:	n/a
12	chr1:152333922-152333972	A549	lung:	n/a
13	chr1:152333922-152333972	SK-N-SH	brain:	n/a
14	chr1:152333922-152333972	HAEpiC	amniotic membrane:	n/a
15	chr1:152333922-152333972	Hela-S3	cervix:	n/a
16	chr1:152333922-152333972	PrEC	prostate:	n/a
17	chr1:152333922-152333972	BJ	skin:	n/a
18	chr1:152333922-152333972	GM19239	blood:	n/a
19	chr1:152333922-152333972	AG09309	skin:	n/a
20	chr1:152333922-152333972	AG04449	skin:	fetal
21	chr1:152333922-152333972	H1-hESC	embryonic stem cell:	embryo
22	chr1:152333922-152333972	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:152333922-152333972	MCF-7	breast:	n/a
24	chr1:152333922-152333972	NHDF-neo	bronchial:	n/a
25	chr1:152333922-152333972	RPTEC	kidney:	n/a
26	chr1:152333922-152333972	NT2-D1	testis:	n/a
27	chr1:152333922-152333972	K562	blood:	n/a
28	chr1:152333922-152333972	SK-N-SH_RA	brain:	n/a
29	chr1:152333922-152333972	SKMC	muscle:	n/a
30	chr1:152333922-152333972	HCT-116	colon:	n/a
31	chr1:152333922-152333972	NB4	blood:	n/a
32	chr1:152333922-152333972	GM12891	blood:	n/a
33	chr1:152333922-152333972	SK-N-MC	brain:	n/a
34	chr1:152333922-152333972	HepG2	liver:	n/a
35	chr1:152333922-152333972	IMR90	lung:	fetal
36	chr1:152333922-152333972	HRPEpiC	eye:	n/a
37	chr1:152333922-152333972	GM06990	blood:	n/a
38	chr1:152333922-152333972	HEEpiC	esophagus:	n/a
39	chr1:152333922-152333972	PANC-1	pancreas:	n/a
40	chr1:152333922-152333972	Caco-2	colon:	n/a
41	chr1:152333922-152333972	GM12892	blood:	n/a
42	chr1:152333922-152333972	AoSMC	blood vessel:	n/a
43	chr1:152333922-152333972	U87	brain:	n/a
44	chr1:152333922-152333972	ovcar-3	ovarian:	n/a
45	chr1:152333922-152333972	NHBE	bronchial:	n/a
46	chr1:152333922-152333972	GM12878	blood:	n/a
47	chr1:152333922-152333972	SAEC	small airway:	n/a
48	chr1:152333922-152333972	HCM	heart:	n/a
49	chr1:152333922-152333972	AG04450	lung:	fetal
50	chr1:152333922-152333972	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152331244..152333068-chr1:152333782..152336101,2	MCF-7	breast:

No data

Variant related genes	Relation type
FLG2	CpG island
ENSG00000143520	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10788835	0.93[ASN][1000 genomes]
rs10888486	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11204982	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204984	0.93[ASN][1000 genomes]
rs11204985	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204986	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204987	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204995	0.91[ASN][1000 genomes]
rs11204996	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11204997	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11204998	0.91[ASN][1000 genomes]
rs11301808	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11583558	0.81[AMR][1000 genomes]
rs11588022	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590822	0.81[AMR][1000 genomes]
rs12022217	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12024486	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12027445	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029431	0.84[AMR][1000 genomes]
rs12029633	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12032854	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12049036	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12402680	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12403031	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407319	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12408401	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12568784	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1858485	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1923505	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1923506	0.93[ASN][1000 genomes]
rs1923509	0.82[EUR][1000 genomes]
rs1933066	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065954	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2275264	0.93[ASN][1000 genomes]
rs2282303	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3120665	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3120666	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3120667	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3126099	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753443	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3753444	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818831	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829868	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4285700	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4378206	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45541239	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6679899	0.81[AMR][1000 genomes]
rs6693160	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726863	0.81[AMR][1000 genomes]
rs7514696	0.91[ASN][1000 genomes]
rs7515448	0.89[ASN][1000 genomes]
rs941935	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9633410	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152322800-152342600	Weak transcription	Ovary	ovary
2	chr1:152324800-152338800	Weak transcription	Fetal Kidney	kidney
3	chr1:152329600-152334000	Weak transcription	Aorta	Aorta
4	chr1:152331800-152334600	Enhancers	Stomach Mucosa	stomach

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