Variant report

Variant	rs57647094
Chromosome Location	chr1:152647216-152647217
allele	C/T
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:0)
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	chr1:152647216-152647266	ECC-1	luminal epithelium:	n/a
2	chr1:152647216-152647266	GM12878	blood:	n/a
3	chr1:152647216-152647266	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:152647216-152647266	MCF-7	breast:	n/a
5	chr1:152647216-152647266	NHBE	bronchial:	n/a
6	chr1:152647216-152647266	Jurkat	blood:	n/a
7	chr1:152647216-152647266	ProgFib	skin:	n/a
8	chr1:152647216-152647266	SK-N-SH_RA	brain:	n/a
9	chr1:152647216-152647266	Hela-S3	cervix:	n/a
10	chr1:152647216-152647266	NH-A	brain:	n/a
11	chr1:152647216-152647266	RPTEC	kidney:	n/a
12	chr1:152647216-152647266	HCT-116	colon:	n/a
13	chr1:152647216-152647266	NHDF-neo	bronchial:	n/a
14	chr1:152647216-152647266	HCM	heart:	n/a
15	chr1:152647216-152647266	GM12891	blood:	n/a
16	chr1:152647216-152647266	HCF	heart:	n/a
17	chr1:152647216-152647266	PANC-1	pancreas:	n/a
18	chr1:152647216-152647266	HEEpiC	esophagus:	n/a
19	chr1:152647216-152647266	SKMC	muscle:	n/a
20	chr1:152647216-152647266	HRPEpiC	eye:	n/a
21	chr1:152647216-152647266	PFSK-1	brain:	n/a
22	chr1:152647216-152647266	PrEC	prostate:	n/a
23	chr1:152647216-152647266	HRE	kidney:	n/a
24	chr1:152647216-152647266	AG10803	skin:	n/a
25	chr1:152647216-152647266	CMK	blood:	n/a
26	chr1:152647216-152647266	AG04450	lung:	fetal
27	chr1:152647216-152647266	HRCEpiC	kidney:	n/a
28	chr1:152647216-152647266	HIPEpiC	eye:	n/a
29	chr1:152647216-152647266	Caco-2	colon:	n/a
30	chr1:152647216-152647266	HL-60	blood:	n/a
31	chr1:152647216-152647266	K562	blood:	n/a
32	chr1:152647216-152647266	MCF10A-Er-Src	breast:	n/a
33	chr1:152647216-152647266	HCPEpiC	choroid plexus:	n/a
34	chr1:152647216-152647266	GM12892	blood:	n/a
35	chr1:152647216-152647266	BE2_C	brain:	n/a
36	chr1:152647216-152647266	IMR90	lung:	fetal
37	chr1:152647216-152647266	HAEpiC	amniotic membrane:	n/a
38	chr1:152647216-152647266	HepG2	liver:	n/a
39	chr1:152647216-152647266	ovcar-3	ovarian:	n/a
40	chr1:152647216-152647266	HUVEC	blood vessel:	n/a
41	chr1:152647216-152647266	HEK293	kidney:	embryo
42	chr1:152647216-152647266	Hepatocyte	liver:	n/a
43	chr1:152647216-152647266	SAEC	small airway:	n/a
44	chr1:152647216-152647266	AG04449	skin:	fetal
45	chr1:152647216-152647266	AG09309	skin:	n/a
46	chr1:152647216-152647266	SK-N-SH	brain:	n/a
47	chr1:152647216-152647266	BJ	skin:	n/a
48	chr1:152647216-152647266	SK-N-MC	brain:	n/a
49	chr1:152647216-152647266	T-47D	breast:	n/a
50	chr1:152647216-152647266	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
LCE2B	CpG island
LCE2C	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11205070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205071	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064455	1.00[EUR][1000 genomes]
rs12068810	1.00[EUR][1000 genomes]
rs12074920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412544	1.00[EUR][1000 genomes]
rs16834311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834471	1.00[EUR][1000 genomes]
rs1831637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57559317	1.00[EUR][1000 genomes]
rs58027261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58733562	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58946274	1.00[EUR][1000 genomes]
rs59077484	1.00[EUR][1000 genomes]
rs59980392	1.00[EUR][1000 genomes]
rs60871494	1.00[EUR][1000 genomes]
rs61699371	1.00[EUR][1000 genomes]
rs6587689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658215	1.00[EUR][1000 genomes]
rs6664006	1.00[EUR][1000 genomes]
rs6676697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005805	1.00[EUR][1000 genomes]
rs73009166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011177	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73014877	1.00[EUR][1000 genomes]
rs73014882	1.00[EUR][1000 genomes]
rs73014899	1.00[EUR][1000 genomes]
rs73016794	1.00[EUR][1000 genomes]
rs73019292	1.00[EUR][1000 genomes]
rs7515644	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7516726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv469873	chr1:152563260-152713616	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv482518	chr1:152563260-152713616	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1001647	chr1:152572876-152678509	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
13	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
14	nsv1005047	chr1:152636316-152656590	Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3382870	chr1:152641788-152653697	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv946392	chr1:152647083-152648442	Weak transcription	TF binding region CpG island	2 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	chr1:152646200-152649000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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