Variant report

Variant	rs182730992
Chromosome Location	chr21:15199862-15199863
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: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	chr21:15199826-15199876	NT2-D1	testis:	n/a
2	chr21:15199826-15199876	PANC-1	pancreas:	n/a
3	chr21:15199826-15199876	HUVEC	blood vessel:	n/a
4	chr21:15199826-15199876	K562	blood:	n/a
5	chr21:15199826-15199876	CMK	blood:	n/a
6	chr21:15199826-15199876	AG04449	skin:	fetal
7	chr21:15199826-15199876	HNPCEpiC	eye:	n/a
8	chr21:15199826-15199876	HRE	kidney:	n/a
9	chr21:15199826-15199876	HPAEpiC	pulmonary alveolar:	n/a
10	chr21:15199826-15199876	HepG2	liver:	n/a
11	chr21:15199826-15199876	GM06990	blood:	n/a
12	chr21:15199826-15199876	PrEC	prostate:	n/a
13	chr21:15199826-15199876	BE2_C	brain:	n/a
14	chr21:15199826-15199876	HIPEpiC	eye:	n/a
15	chr21:15199826-15199876	HEEpiC	esophagus:	n/a
16	chr21:15199826-15199876	NHBE	bronchial:	n/a
17	chr21:15199826-15199876	AG04450	lung:	fetal
18	chr21:15199826-15199876	ovcar-3	ovarian:	n/a
19	chr21:15199826-15199876	IMR90	lung:	fetal
20	chr21:15199826-15199876	GM12891	blood:	n/a
21	chr21:15199826-15199876	SAEC	small airway:	n/a
22	chr21:15199826-15199876	GM19239	blood:	n/a
23	chr21:15199826-15199876	HEK293	kidney:	embryo
24	chr21:15199826-15199876	HAEpiC	amniotic membrane:	n/a
25	chr21:15199826-15199876	HL-60	blood:	n/a
26	chr21:15199826-15199876	HRPEpiC	eye:	n/a
27	chr21:15199826-15199876	Hela-S3	cervix:	n/a
28	chr21:15199826-15199876	NB4	blood:	n/a
29	chr21:15199826-15199876	AG09309	skin:	n/a
30	chr21:15199826-15199876	SKMC	muscle:	n/a
31	chr21:15199826-15199876	AG09319	gingival:	n/a
32	chr21:15199826-15199876	H1-hESC	embryonic stem cell:	embryo
33	chr21:15199826-15199876	ProgFib	skin:	n/a
34	chr21:15199826-15199876	U87	brain:	n/a
35	chr21:15199826-15199876	Jurkat	blood:	n/a
36	chr21:15199826-15199876	HCM	heart:	n/a
37	chr21:15199826-15199876	HMEC	breast:	n/a
38	chr21:15199826-15199876	HRCEpiC	kidney:	n/a
39	chr21:15199826-15199876	Hepatocyte	liver:	n/a
40	chr21:15199826-15199876	LNCaP	prostate:	n/a
41	chr21:15199826-15199876	AG10803	skin:	n/a
42	chr21:15199826-15199876	SK-N-SH_RA	brain:	n/a
43	chr21:15199826-15199876	T-47D	breast:	n/a
44	chr21:15199826-15199876	HCF	heart:	n/a
45	chr21:15199826-15199876	GM12892	blood:	n/a
46	chr21:15199826-15199876	A549	lung:	n/a
47	chr21:15199826-15199876	GM12878	blood:	n/a
48	chr21:15199826-15199876	SK-N-SH	brain:	n/a
49	chr21:15199826-15199876	ECC-1	luminal epithelium:	n/a
50	chr21:15199826-15199876	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
GXYLT1P2	CpG island

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

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751922	chr21:14369207-15214196	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	esv2751923	chr21:14369207-15336787	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
3	esv2830056	chr21:14402064-15275981	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
4	esv2763688	chr21:14425889-15340539	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	esv2756746	chr21:14432699-15336787	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2758809	chr21:14432699-15339752	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	nsv1061933	chr21:14452850-15285842	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061098	chr21:14456404-15214708	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1059560	chr21:14467767-15255416	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv586988	chr21:14482370-15269923	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1065793	chr21:14566190-15222860	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1057563	chr21:14570272-15255416	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1063726	chr21:14570272-15316444	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1057185	chr21:14594223-15222860	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1060053	chr21:14594223-15255416	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1062730	chr21:14594223-15341527	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
17	nsv1056312	chr21:14597009-15255416	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv1062576	chr21:14600070-15255416	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
19	nsv1058731	chr21:14603577-15255416	Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
20	nsv428383	chr21:14634532-15230853	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
21	esv2758529	chr21:14634532-15339752	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
22	nsv515654	chr21:14640400-15275981	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
23	nsv1056892	chr21:14649798-15222860	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
24	nsv1056514	chr21:14649798-15255416	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
25	nsv544362	chr21:14678355-15372512	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
26	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
27	nsv544364	chr21:14713155-15372651	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
28	nsv1067433	chr21:14736298-15507502	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	33 gene(s)	inside rSNPs	diseases
29	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
30	nsv1056303	chr21:14760841-15255416	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
31	nsv459092	chr21:14773232-15214708	Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
32	nsv587001	chr21:14773232-15214708	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
33	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
34	nsv587014	chr21:14957973-15215814	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
35	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
36	nsv587016	chr21:14969927-15370863	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
37	nsv587017	chr21:14977445-15375507	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
38	nsv913382	chr21:15011015-15287884	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
39	nsv1060399	chr21:15099272-15222860	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
40	nsv470877	chr21:15105484-15215814	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
41	nsv459093	chr21:15105485-15215814	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
42	nsv587019	chr21:15105485-15215814	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
43	nsv1059465	chr21:15116712-15347609	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
44	nsv459094	chr21:15148633-15215814	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
45	nsv587020	chr21:15148633-15215814	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
46	nsv913383	chr21:15149753-15210177	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
47	nsv913384	chr21:15154158-15206684	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
48	nsv913385	chr21:15154158-15221758	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
49	nsv913386	chr21:15154158-15241538	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
50	nsv913387	chr21:15154158-15287884	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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