Variant report

Variant	rs112462296
Chromosome Location	chr11:5143586-5143587
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:2)
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	chr11:5143555-5143605	NHBE	bronchial:	n/a
2	chr11:5143555-5143605	PANC-1	pancreas:	n/a
3	chr11:5143555-5143605	AG04449	skin:	fetal
4	chr11:5143555-5143605	AoSMC	blood vessel:	n/a
5	chr11:5143555-5143605	K562	blood:	n/a
6	chr11:5143555-5143605	BE2_C	brain:	n/a
7	chr11:5143555-5143605	HepG2	liver:	n/a
8	chr11:5143555-5143605	HRCEpiC	kidney:	n/a
9	chr11:5143555-5143605	GM19239	blood:	n/a
10	chr11:5143555-5143605	HCPEpiC	choroid plexus:	n/a
11	chr11:5143555-5143605	GM12878	blood:	n/a
12	chr11:5143555-5143605	PrEC	prostate:	n/a
13	chr11:5143555-5143605	A549	lung:	n/a
14	chr11:5143555-5143605	HRE	kidney:	n/a
15	chr11:5143555-5143605	CMK	blood:	n/a
16	chr11:5143555-5143605	GM06990	blood:	n/a
17	chr11:5143555-5143605	HIPEpiC	eye:	n/a
18	chr11:5143555-5143605	NH-A	brain:	n/a
19	chr11:5143555-5143605	ECC-1	luminal epithelium:	n/a
20	chr11:5143555-5143605	Hepatocyte	liver:	n/a
21	chr11:5143555-5143605	Jurkat	blood:	n/a
22	chr11:5143555-5143605	SK-N-SH_RA	brain:	n/a
23	chr11:5143555-5143605	AG04450	lung:	fetal
24	chr11:5143555-5143605	ProgFib	skin:	n/a
25	chr11:5143555-5143605	PFSK-1	brain:	n/a
26	chr11:5143555-5143605	HCM	heart:	n/a
27	chr11:5143555-5143605	U87	brain:	n/a
28	chr11:5143555-5143605	Caco-2	colon:	n/a
29	chr11:5143555-5143605	LNCaP	prostate:	n/a
30	chr11:5143555-5143605	HAEpiC	amniotic membrane:	n/a
31	chr11:5143555-5143605	AG09319	gingival:	n/a
32	chr11:5143555-5143605	SK-N-MC	brain:	n/a
33	chr11:5143555-5143605	HEK293	kidney:	embryo
34	chr11:5143555-5143605	NT2-D1	testis:	n/a
35	chr11:5143555-5143605	Hela-S3	cervix:	n/a
36	chr11:5143555-5143605	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:5143555-5143605	SAEC	small airway:	n/a
38	chr11:5143555-5143605	HEEpiC	esophagus:	n/a
39	chr11:5143555-5143605	NB4	blood:	n/a
40	chr11:5143555-5143605	NHDF-neo	bronchial:	n/a
41	chr11:5143555-5143605	HNPCEpiC	eye:	n/a
42	chr11:5143555-5143605	SK-N-SH	brain:	n/a
43	chr11:5143555-5143605	AG10803	skin:	n/a
44	chr11:5143555-5143605	MCF10A-Er-Src	breast:	n/a
45	chr11:5143555-5143605	HUVEC	blood vessel:	n/a
46	chr11:5143555-5143605	GM12891	blood:	n/a
47	chr11:5143555-5143605	IMR90	lung:	fetal
48	chr11:5143555-5143605	HRPEpiC	eye:	n/a
49	chr11:5143555-5143605	HCF	heart:	n/a
50	chr11:5143555-5143605	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5143402..5145661-chr11:5288331..5290238,2	K562	blood:
2	chr11:5140099..5148928-chr11:5149317..5155604,15	K562	blood:

No data

Variant related genes	Relation type
OR52A4	CpG island
ENSG00000171944	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv553219	chr11:5026200-5214413	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv896920	chr11:5068137-5221825	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv896923	chr11:5091882-5199208	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv896924	chr11:5098714-5221825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv553222	chr11:5102476-5151516	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv553223	chr11:5116128-5149332	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv467668	chr11:5138733-5207389	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
12	nsv553224	chr11:5138733-5207389	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv896925	chr11:5140977-5221825	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	nsv896926	chr11:5143309-5170510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5137400-5144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5139000-5144800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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