Variant report

Variant	rs9977514
Chromosome Location	chr21:14982114-14982115
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:14981946-14982193	Gliobla	brain:	n/a	n/a
2	TCF3	chr21:14981841-14982221	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:14982080-14982130	GM12878	blood:	n/a
2	chr21:14982080-14982130	AG09309	skin:	n/a
3	chr21:14982080-14982130	NHDF-neo	bronchial:	n/a
4	chr21:14982080-14982130	Jurkat	blood:	n/a
5	chr21:14982080-14982130	MCF10A-Er-Src	breast:	n/a
6	chr21:14982080-14982130	AG04450	lung:	fetal
7	chr21:14982080-14982130	HCM	heart:	n/a
8	chr21:14982080-14982130	GM06990	blood:	n/a
9	chr21:14982080-14982130	CMK	blood:	n/a
10	chr21:14982080-14982130	HPAEpiC	pulmonary alveolar:	n/a
11	chr21:14982080-14982130	NHBE	bronchial:	n/a
12	chr21:14982080-14982130	SK-N-SH_RA	brain:	n/a
13	chr21:14982080-14982130	NT2-D1	testis:	n/a
14	chr21:14982080-14982130	U87	brain:	n/a
15	chr21:14982080-14982130	GM12891	blood:	n/a
16	chr21:14982080-14982130	HUVEC	blood vessel:	n/a
17	chr21:14982080-14982130	LNCaP	prostate:	n/a
18	chr21:14982080-14982130	MCF-7	breast:	n/a
19	chr21:14982080-14982130	HEEpiC	esophagus:	n/a
20	chr21:14982080-14982130	HIPEpiC	eye:	n/a
21	chr21:14982080-14982130	HNPCEpiC	eye:	n/a
22	chr21:14982080-14982130	SKMC	muscle:	n/a
23	chr21:14982080-14982130	Hepatocyte	liver:	n/a
24	chr21:14982080-14982130	AG04449	skin:	fetal
25	chr21:14982080-14982130	HAEpiC	amniotic membrane:	n/a
26	chr21:14982080-14982130	PANC-1	pancreas:	n/a
27	chr21:14982080-14982130	A549	lung:	n/a
28	chr21:14982080-14982130	HL-60	blood:	n/a
29	chr21:14982080-14982130	ECC-1	luminal epithelium:	n/a
30	chr21:14982080-14982130	GM12892	blood:	n/a
31	chr21:14982080-14982130	AG10803	skin:	n/a
32	chr21:14982080-14982130	HRCEpiC	kidney:	n/a
33	chr21:14982080-14982130	H1-hESC	embryonic stem cell:	embryo
34	chr21:14982080-14982130	BJ	skin:	n/a
35	chr21:14982080-14982130	PFSK-1	brain:	n/a
36	chr21:14982080-14982130	NH-A	brain:	n/a
37	chr21:14982080-14982130	K562	blood:	n/a
38	chr21:14982080-14982130	HepG2	liver:	n/a
39	chr21:14982080-14982130	Caco-2	colon:	n/a
40	chr21:14982080-14982130	ProgFib	skin:	n/a
41	chr21:14982080-14982130	SK-N-MC	brain:	n/a
42	chr21:14982080-14982130	Hela-S3	cervix:	n/a
43	chr21:14982080-14982130	PrEC	prostate:	n/a
44	chr21:14982080-14982130	HEK293	kidney:	embryo
45	chr21:14982080-14982130	NB4	blood:	n/a
46	chr21:14982080-14982130	HCF	heart:	n/a
47	chr21:14982080-14982130	HCT-116	colon:	n/a
48	chr21:14982080-14982130	AG09319	gingival:	n/a
49	chr21:14982080-14982130	RPTEC	kidney:	n/a
50	chr21:14982080-14982130	HMEC	breast:	n/a

No data

Variant related genes	Relation type
POTED	TF binding region
POTED	CpG island

Extended variants
information (count: 142 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057160	chr21:14364519-15033967	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1055192	chr21:14364519-15153262	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1067181	chr21:14414125-15087941	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	esv2756182	chr21:14425542-15180839	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
8	nsv432144	chr21:14425542-15181242	Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
9	esv2760689	chr21:14425889-15110485	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv1062937	chr21:14432772-15153262	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1059325	chr21:14452850-15075469	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
15	nsv1067043	chr21:14452850-15088037	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
16	nsv1059401	chr21:14452850-15134369	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1060254	chr21:14452850-15137578	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
18	nsv1056643	chr21:14452850-15148130	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
19	nsv1062126	chr21:14452850-15153262	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	esv2830286	chr21:14469594-15007545	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
24	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
25	nsv586992	chr21:14524688-15028535	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
26	nsv544352	chr21:14539478-15125564	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
27	nsv544354	chr21:14539678-15170421	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
28	nsv1060462	chr21:14566190-15075469	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
29	nsv1061036	chr21:14566190-15082916	Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
30	nsv1062482	chr21:14566190-15087941	Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
31	nsv1063308	chr21:14566190-15088037	Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
32	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
33	nsv913355	chr21:14569317-15011015	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
34	nsv1063022	chr21:14570272-15072156	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
35	nsv1058106	chr21:14570272-15072805	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
36	nsv1058907	chr21:14570272-15075469	ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
37	nsv1062202	chr21:14570272-15088037	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
38	nsv1063479	chr21:14570272-15090836	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
39	nsv1057395	chr21:14570272-15137578	Active TSS Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
40	nsv1056586	chr21:14570272-15148130	Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
41	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
42	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
43	nsv913356	chr21:14585453-14994911	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
44	nsv913357	chr21:14585453-15036305	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
45	nsv1062223	chr21:14594223-15063566	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
46	nsv1067546	chr21:14594223-15075469	Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
47	nsv1057930	chr21:14594223-15087852	Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
48	nsv1056105	chr21:14594223-15087941	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
49	nsv1064893	chr21:14594223-15088037	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
50	nsv1058352	chr21:14594223-15090836	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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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