Variant report

Variant	rs530522280
Chromosome Location	chr2:33954350-33954351
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	chr2:33954347-33954397	HepG2	liver:	n/a
2	chr2:33954347-33954397	Hela-S3	cervix:	n/a
3	chr2:33954347-33954397	RPTEC	kidney:	n/a
4	chr2:33954347-33954397	SK-N-SH_RA	brain:	n/a
5	chr2:33954347-33954397	NHBE	bronchial:	n/a
6	chr2:33954347-33954397	BJ	skin:	n/a
7	chr2:33954347-33954397	IMR90	lung:	fetal
8	chr2:33954347-33954397	SK-N-MC	brain:	n/a
9	chr2:33954347-33954397	NB4	blood:	n/a
10	chr2:33954347-33954397	PANC-1	pancreas:	n/a
11	chr2:33954347-33954397	HAEpiC	amniotic membrane:	n/a
12	chr2:33954347-33954397	HCPEpiC	choroid plexus:	n/a
13	chr2:33954347-33954397	MCF10A-Er-Src	breast:	n/a
14	chr2:33954347-33954397	NH-A	brain:	n/a
15	chr2:33954347-33954397	GM12878	blood:	n/a
16	chr2:33954347-33954397	CMK	blood:	n/a
17	chr2:33954347-33954397	GM19239	blood:	n/a
18	chr2:33954347-33954397	ProgFib	skin:	n/a
19	chr2:33954347-33954397	GM06990	blood:	n/a
20	chr2:33954347-33954397	BE2_C	brain:	n/a
21	chr2:33954347-33954397	NT2-D1	testis:	n/a
22	chr2:33954347-33954397	HCM	heart:	n/a
23	chr2:33954347-33954397	HRE	kidney:	n/a
24	chr2:33954347-33954397	GM12891	blood:	n/a
25	chr2:33954347-33954397	HCT-116	colon:	n/a
26	chr2:33954347-33954397	SAEC	small airway:	n/a
27	chr2:33954347-33954397	HRPEpiC	eye:	n/a
28	chr2:33954347-33954397	HMEC	breast:	n/a
29	chr2:33954347-33954397	H1-hESC	embryonic stem cell:	embryo
30	chr2:33954347-33954397	MCF-7	breast:	n/a
31	chr2:33954347-33954397	SKMC	muscle:	n/a
32	chr2:33954347-33954397	Jurkat	blood:	n/a
33	chr2:33954347-33954397	HCF	heart:	n/a
34	chr2:33954347-33954397	AoSMC	blood vessel:	n/a
35	chr2:33954347-33954397	HIPEpiC	eye:	n/a
36	chr2:33954347-33954397	T-47D	breast:	n/a
37	chr2:33954347-33954397	LNCaP	prostate:	n/a
38	chr2:33954347-33954397	HNPCEpiC	eye:	n/a
39	chr2:33954347-33954397	U87	brain:	n/a
40	chr2:33954347-33954397	HEK293	kidney:	embryo
41	chr2:33954347-33954397	AG04450	lung:	fetal
42	chr2:33954347-33954397	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:33954347-33954397	ovcar-3	ovarian:	n/a
44	chr2:33954347-33954397	HUVEC	blood vessel:	n/a
45	chr2:33954347-33954397	A549	lung:	n/a
46	chr2:33954347-33954397	AG10803	skin:	n/a
47	chr2:33954347-33954397	PFSK-1	brain:	n/a
48	chr2:33954347-33954397	Caco-2	colon:	n/a
49	chr2:33954347-33954397	Hepatocyte	liver:	n/a
50	chr2:33954347-33954397	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
MYADML	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350238	chr2:33849408-33979026	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873793	chr2:33936701-33988173	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv873794	chr2:33936701-34103546	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv873795	chr2:33939941-34064746	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv214925	chr2:33951155-33959435	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	nsv873796	chr2:33953186-33981501	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

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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