Variant report

Variant	rs537093617
Chromosome Location	chr12:21815523-21815524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:21815126-21815604	A549	lung:	n/a	n/a
2	MAX	chr12:21815247-21815871	A549	lung:	n/a	n/a
3	POLR2A	chr12:21815143-21815606	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21815474-21815524	BJ	skin:	n/a
2	chr12:21815512-21815562	HCPEpiC	choroid plexus:	n/a
3	chr12:21815512-21815562	PANC-1	pancreas:	n/a
4	chr12:21815512-21815562	HIPEpiC	eye:	n/a
5	chr12:21815512-21815562	RPTEC	kidney:	n/a
6	chr12:21815474-21815524	ovcar-3	ovarian:	n/a
7	chr12:21815512-21815562	HEEpiC	esophagus:	n/a
8	chr12:21815512-21815562	HCF	heart:	n/a
9	chr12:21815512-21815562	ovcar-3	ovarian:	n/a
10	chr12:21815474-21815524	MCF10A-Er-Src	breast:	n/a
11	chr12:21815512-21815562	T-47D	breast:	n/a
12	chr12:21815474-21815524	GM19239	blood:	n/a
13	chr12:21815512-21815562	HNPCEpiC	eye:	n/a
14	chr12:21815474-21815524	LNCaP	prostate:	n/a
15	chr12:21815512-21815562	HRE	kidney:	n/a
16	chr12:21815512-21815562	CMK	blood:	n/a
17	chr12:21815512-21815562	GM12891	blood:	n/a
18	chr12:21815474-21815524	HCT-116	colon:	n/a
19	chr12:21815512-21815562	AG09319	gingival:	n/a
20	chr12:21815512-21815562	K562	blood:	n/a
21	chr12:21815512-21815562	H1-hESC	embryonic stem cell:	embryo
22	chr12:21815474-21815524	Jurkat	blood:	n/a
23	chr12:21815512-21815562	U87	brain:	n/a
24	chr12:21815512-21815562	HL-60	blood:	n/a
25	chr12:21815512-21815562	NT2-D1	testis:	n/a
26	chr12:21815474-21815524	HRPEpiC	eye:	n/a
27	chr12:21815474-21815524	AG09319	gingival:	n/a
28	chr12:21815512-21815562	Hepatocyte	liver:	n/a
29	chr12:21815512-21815562	A549	lung:	n/a
30	chr12:21815474-21815524	NHDF-neo	bronchial:	n/a
31	chr12:21815512-21815562	HCM	heart:	n/a
32	chr12:21815474-21815524	GM12891	blood:	n/a
33	chr12:21815512-21815562	GM19239	blood:	n/a
34	chr12:21815474-21815524	ECC-1	luminal epithelium:	n/a
35	chr12:21815474-21815524	AG09309	skin:	n/a
36	chr12:21815474-21815524	SAEC	small airway:	n/a
37	chr12:21815512-21815562	Jurkat	blood:	n/a
38	chr12:21815512-21815562	AG10803	skin:	n/a
39	chr12:21815512-21815562	HAEpiC	amniotic membrane:	n/a
40	chr12:21815512-21815562	HEK293	kidney:	embryo
41	chr12:21815474-21815524	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:21815474-21815524	SK-N-SH	brain:	n/a
43	chr12:21815512-21815562	HMEC	breast:	n/a
44	chr12:21815512-21815562	BE2_C	brain:	n/a
45	chr12:21815512-21815562	GM12878	blood:	n/a
46	chr12:21815474-21815524	AoSMC	blood vessel:	n/a
47	chr12:21815474-21815524	HMEC	breast:	n/a
48	chr12:21815512-21815562	NHDF-neo	bronchial:	n/a
49	chr12:21815474-21815524	GM12892	blood:	n/a
50	chr12:21815474-21815524	HUVEC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf39-1	chr12:21815247-21815705	ENSG00000256615.1

No data

Variant related genes	Relation type
LDHB	TF binding region
LDHB	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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv12759	chr12:21815499-21816988	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21810800-21816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21815400-21815600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr12:21815400-21815800	Active TSS	Muscle Satellite Cultured Cells	--
4	chr12:21815400-21815800	Active TSS	Fetal Muscle Trunk	muscle
5	chr12:21815400-21816000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
6	chr12:21815400-21816200	Active TSS	A549	lung

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