Variant report

Variant	rs61270445
Chromosome Location	chr1:152768728-152768729
allele	C/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: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	chr1:152768727-152768777	HEEpiC	esophagus:	n/a
2	chr1:152768727-152768777	HAEpiC	amniotic membrane:	n/a
3	chr1:152768727-152768777	HCT-116	colon:	n/a
4	chr1:152768727-152768777	BJ	skin:	n/a
5	chr1:152768727-152768777	ECC-1	luminal epithelium:	n/a
6	chr1:152768727-152768777	NB4	blood:	n/a
7	chr1:152768727-152768777	GM06990	blood:	n/a
8	chr1:152768727-152768777	H1-hESC	embryonic stem cell:	embryo
9	chr1:152768727-152768777	SK-N-SH	brain:	n/a
10	chr1:152768727-152768777	NT2-D1	testis:	n/a
11	chr1:152768727-152768777	MCF10A-Er-Src	breast:	n/a
12	chr1:152768727-152768777	Hela-S3	cervix:	n/a
13	chr1:152768727-152768777	HepG2	liver:	n/a
14	chr1:152768727-152768777	IMR90	lung:	fetal
15	chr1:152768727-152768777	HNPCEpiC	eye:	n/a
16	chr1:152768727-152768777	PFSK-1	brain:	n/a
17	chr1:152768727-152768777	Jurkat	blood:	n/a
18	chr1:152768727-152768777	AG09319	gingival:	n/a
19	chr1:152768727-152768777	Caco-2	colon:	n/a
20	chr1:152768727-152768777	AG10803	skin:	n/a
21	chr1:152768727-152768777	ovcar-3	ovarian:	n/a
22	chr1:152768727-152768777	BE2_C	brain:	n/a
23	chr1:152768727-152768777	SK-N-MC	brain:	n/a
24	chr1:152768727-152768777	HRPEpiC	eye:	n/a
25	chr1:152768727-152768777	PANC-1	pancreas:	n/a
26	chr1:152768727-152768777	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:152768727-152768777	GM12892	blood:	n/a
28	chr1:152768727-152768777	MCF-7	breast:	n/a
29	chr1:152768727-152768777	HEK293	kidney:	embryo
30	chr1:152768727-152768777	Hepatocyte	liver:	n/a
31	chr1:152768727-152768777	HCM	heart:	n/a
32	chr1:152768727-152768777	NHBE	bronchial:	n/a
33	chr1:152768727-152768777	A549	lung:	n/a
34	chr1:152768727-152768777	T-47D	breast:	n/a
35	chr1:152768727-152768777	NH-A	brain:	n/a
36	chr1:152768727-152768777	AG09309	skin:	n/a
37	chr1:152768727-152768777	HCPEpiC	choroid plexus:	n/a
38	chr1:152768727-152768777	AG04449	skin:	fetal
39	chr1:152768727-152768777	AoSMC	blood vessel:	n/a
40	chr1:152768727-152768777	SKMC	muscle:	n/a
41	chr1:152768727-152768777	CMK	blood:	n/a
42	chr1:152768727-152768777	HUVEC	blood vessel:	n/a
43	chr1:152768727-152768777	HRCEpiC	kidney:	n/a
44	chr1:152768727-152768777	SAEC	small airway:	n/a
45	chr1:152768727-152768777	HRE	kidney:	n/a
46	chr1:152768727-152768777	AG04450	lung:	fetal
47	chr1:152768727-152768777	U87	brain:	n/a
48	chr1:152768727-152768777	LNCaP	prostate:	n/a
49	chr1:152768727-152768777	NHDF-neo	bronchial:	n/a
50	chr1:152768727-152768777	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
LCE1D	CpG island

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1332503	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412544	1.00[AMR][1000 genomes]
rs35228950	1.00[AMR][1000 genomes]
rs56907048	1.00[AMR][1000 genomes]
rs58039492	1.00[AMR][1000 genomes]
rs59924783	1.00[AMR][1000 genomes]
rs60012235	1.00[AMR][1000 genomes]
rs60093489	1.00[AMR][1000 genomes]
rs60233557	1.00[AMR][1000 genomes]
rs73006529	1.00[AMR][1000 genomes]
rs73014878	1.00[AMR][1000 genomes]
rs73014880	1.00[AMR][1000 genomes]
rs73014888	1.00[AMR][1000 genomes]
rs73014889	1.00[AMR][1000 genomes]
rs73014891	1.00[AMR][1000 genomes]
rs73016703	1.00[AMR][1000 genomes]
rs73016704	1.00[AMR][1000 genomes]
rs73016706	1.00[AMR][1000 genomes]
rs73016707	1.00[AMR][1000 genomes]
rs73016719	1.00[AMR][1000 genomes]
rs73016726	1.00[AMR][1000 genomes]
rs73016787	1.00[AMR][1000 genomes]
rs73016794	1.00[AMR][1000 genomes]
rs73016797	1.00[AMR][1000 genomes]
rs73018617	1.00[AMR][1000 genomes]
rs73018626	1.00[AMR][1000 genomes]
rs73019083	1.00[AMR][1000 genomes]
rs9724909	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv947325	chr1:152670204-152793272	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	esv2763813	chr1:152687058-152780522	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv508615	chr1:152724155-152787503	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv1004884	chr1:152724514-152780522	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv1010895	chr1:152744949-152776743	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv79	chr1:152746435-152773598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv2910	chr1:152746435-152774414	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv1014190	chr1:152747126-152778861	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv997705	chr1:152749733-152773905	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv998888	chr1:152749733-152776743	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv999918	chr1:152749733-152861866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1009988	chr1:152750256-152773905	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1001837	chr1:152750506-152773905	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv1010924	chr1:152750658-152773905	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv1011430	chr1:152750710-152773905	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv1009758	chr1:152751225-152773905	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv1813620	chr1:152751946-152774632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	esv1799962	chr1:152751946-152778711	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
29	nsv1007168	chr1:152754630-152773905	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	esv3501633	chr1:152754928-152772360	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv3501634	chr1:152754928-152772360	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	esv2764262	chr1:152757690-152773905	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv1013454	chr1:152757690-152773905	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv1011312	chr1:152757690-152776743	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
35	nsv1001695	chr1:152757690-152778576	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
36	nsv1015026	chr1:152757690-152778861	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
37	esv1824597	chr1:152758340-152772579	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	esv1808263	chr1:152758340-152774632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
39	esv1793129	chr1:152758340-152776137	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
40	esv3453080	chr1:152758828-152771926	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
41	esv3453081	chr1:152758828-152771926	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	esv3497820	chr1:152759078-152771876	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
43	nsv435711	chr1:152759342-152772447	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
44	esv992673	chr1:152759371-152772108	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
45	esv1799343	chr1:152759472-152771153	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
46	esv1806708	chr1:152759472-152771153	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
47	esv1848408	chr1:152759472-152771153	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
48	nsv8436	chr1:152759548-152770878	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
49	esv2535964	chr1:152759586-152771441	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
50	esv1823998	chr1:152759643-152770727	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152767600-152769600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:152767800-152769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:152768000-152769000	Enhancers	Brain Hippocampus Middle	brain

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