Variant report

Variant	rs573450397
Chromosome Location	chr11:49124824-49124825
allele	A/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	chr11:49124791-49124841	ovcar-3	ovarian:	n/a
2	chr11:49124791-49124841	SAEC	small airway:	n/a
3	chr11:49124791-49124841	U87	brain:	n/a
4	chr11:49124791-49124841	Hela-S3	cervix:	n/a
5	chr11:49124791-49124841	CMK	blood:	n/a
6	chr11:49124791-49124841	NHDF-neo	bronchial:	n/a
7	chr11:49124791-49124841	HMEC	breast:	n/a
8	chr11:49124791-49124841	AG10803	skin:	n/a
9	chr11:49124791-49124841	MCF-7	breast:	n/a
10	chr11:49124791-49124841	HCM	heart:	n/a
11	chr11:49124791-49124841	NHBE	bronchial:	n/a
12	chr11:49124791-49124841	BE2_C	brain:	n/a
13	chr11:49124791-49124841	Hepatocyte	liver:	n/a
14	chr11:49124791-49124841	RPTEC	kidney:	n/a
15	chr11:49124791-49124841	HRPEpiC	eye:	n/a
16	chr11:49124791-49124841	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:49124791-49124841	HRE	kidney:	n/a
18	chr11:49124791-49124841	LNCaP	prostate:	n/a
19	chr11:49124791-49124841	HAEpiC	amniotic membrane:	n/a
20	chr11:49124791-49124841	ProgFib	skin:	n/a
21	chr11:49124791-49124841	GM19239	blood:	n/a
22	chr11:49124791-49124841	ECC-1	luminal epithelium:	n/a
23	chr11:49124791-49124841	NH-A	brain:	n/a
24	chr11:49124791-49124841	HL-60	blood:	n/a
25	chr11:49124791-49124841	IMR90	lung:	fetal
26	chr11:49124791-49124841	HCT-116	colon:	n/a
27	chr11:49124791-49124841	HepG2	liver:	n/a
28	chr11:49124791-49124841	NT2-D1	testis:	n/a
29	chr11:49124791-49124841	HUVEC	blood vessel:	n/a
30	chr11:49124791-49124841	GM12878	blood:	n/a
31	chr11:49124791-49124841	SK-N-MC	brain:	n/a
32	chr11:49124791-49124841	PFSK-1	brain:	n/a
33	chr11:49124791-49124841	SK-N-SH	brain:	n/a
34	chr11:49124791-49124841	Caco-2	colon:	n/a
35	chr11:49124791-49124841	BJ	skin:	n/a
36	chr11:49124791-49124841	AG09309	skin:	n/a
37	chr11:49124791-49124841	SKMC	muscle:	n/a
38	chr11:49124791-49124841	MCF10A-Er-Src	breast:	n/a
39	chr11:49124791-49124841	HNPCEpiC	eye:	n/a
40	chr11:49124791-49124841	A549	lung:	n/a
41	chr11:49124791-49124841	NB4	blood:	n/a
42	chr11:49124791-49124841	AG09319	gingival:	n/a
43	chr11:49124791-49124841	HRCEpiC	kidney:	n/a
44	chr11:49124791-49124841	Jurkat	blood:	n/a
45	chr11:49124791-49124841	PANC-1	pancreas:	n/a
46	chr11:49124791-49124841	AG04450	lung:	fetal
47	chr11:49124791-49124841	AoSMC	blood vessel:	n/a
48	chr11:49124791-49124841	AG04449	skin:	fetal
49	chr11:49124791-49124841	HCF	heart:	n/a
50	chr11:49124791-49124841	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
ENSG00000254412	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759824	chr11:48303671-49185190	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv1828260	chr11:48735614-49162948	Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv427886	chr11:48850348-49185190	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2758268	chr11:48856977-49185190	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv832145	chr11:49002873-49185190	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1054955	chr11:49007476-49138758	Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv897484	chr11:49042866-49162948	ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1835275	chr11:49111467-49131149	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv319	chr11:49123918-49144093	Inactive region	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv975175	chr11:49124095-49140526	Inactive region	TF binding region CpG island lncRNA	2 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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