Variant report

Variant	rs2066926
Chromosome Location	chr22:30868102-30868103
allele	C/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:1)
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	chr22:30868060-30868110	HMEC	breast:	n/a
2	chr22:30868060-30868110	LNCaP	prostate:	n/a
3	chr22:30868060-30868110	Caco-2	colon:	n/a
4	chr22:30868060-30868110	AoSMC	blood vessel:	n/a
5	chr22:30868060-30868110	GM12878	blood:	n/a
6	chr22:30868060-30868110	GM12891	blood:	n/a
7	chr22:30868060-30868110	RPTEC	kidney:	n/a
8	chr22:30868060-30868110	SAEC	small airway:	n/a
9	chr22:30868060-30868110	PFSK-1	brain:	n/a
10	chr22:30868060-30868110	H1-hESC	embryonic stem cell:	embryo
11	chr22:30868060-30868110	GM06990	blood:	n/a
12	chr22:30868060-30868110	NT2-D1	testis:	n/a
13	chr22:30868060-30868110	GM19239	blood:	n/a
14	chr22:30868060-30868110	NHBE	bronchial:	n/a
15	chr22:30868060-30868110	T-47D	breast:	n/a
16	chr22:30868060-30868110	HCF	heart:	n/a
17	chr22:30868060-30868110	U87	brain:	n/a
18	chr22:30868060-30868110	Hela-S3	cervix:	n/a
19	chr22:30868060-30868110	IMR90	lung:	fetal
20	chr22:30868060-30868110	HL-60	blood:	n/a
21	chr22:30868060-30868110	HepG2	liver:	n/a
22	chr22:30868060-30868110	HRE	kidney:	n/a
23	chr22:30868060-30868110	HNPCEpiC	eye:	n/a
24	chr22:30868060-30868110	HCPEpiC	choroid plexus:	n/a
25	chr22:30868060-30868110	BJ	skin:	n/a
26	chr22:30868060-30868110	AG04449	skin:	fetal
27	chr22:30868060-30868110	A549	lung:	n/a
28	chr22:30868060-30868110	HPAEpiC	pulmonary alveolar:	n/a
29	chr22:30868060-30868110	NB4	blood:	n/a
30	chr22:30868060-30868110	HCT-116	colon:	n/a
31	chr22:30868060-30868110	AG09319	gingival:	n/a
32	chr22:30868060-30868110	SK-N-SH_RA	brain:	n/a
33	chr22:30868060-30868110	NH-A	brain:	n/a
34	chr22:30868060-30868110	BE2_C	brain:	n/a
35	chr22:30868060-30868110	HCM	heart:	n/a
36	chr22:30868060-30868110	MCF-7	breast:	n/a
37	chr22:30868060-30868110	ovcar-3	ovarian:	n/a
38	chr22:30868060-30868110	HEK293	kidney:	embryo
39	chr22:30868060-30868110	CMK	blood:	n/a
40	chr22:30868060-30868110	Hepatocyte	liver:	n/a
41	chr22:30868060-30868110	AG09309	skin:	n/a
42	chr22:30868060-30868110	SK-N-SH	brain:	n/a
43	chr22:30868060-30868110	HAEpiC	amniotic membrane:	n/a
44	chr22:30868060-30868110	AG04450	lung:	fetal
45	chr22:30868060-30868110	HIPEpiC	eye:	n/a
46	chr22:30868060-30868110	SKMC	muscle:	n/a
47	chr22:30868060-30868110	ECC-1	luminal epithelium:	n/a
48	chr22:30868060-30868110	HEEpiC	esophagus:	n/a
49	chr22:30868060-30868110	NHDF-neo	bronchial:	n/a
50	chr22:30868060-30868110	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30868050..30870470-chr22:30889261..30891907,2	K562	blood:

No data

Variant related genes	Relation type
SEC14L3	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1465223	0.82[CHB][hapmap]
rs4820853	0.91[CHB][hapmap]
rs714456	0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2066926	SEC14L3	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30866800-30869400	Enhancers	Liver	Liver
2	chr22:30867600-30868200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30867600-30868400	Enhancers	Pancreas	Pancrea
4	chr22:30867600-30869400	Enhancers	Lung	lung
5	chr22:30867800-30868200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr22:30867800-30868200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30867800-30868400	Enhancers	Gastric	stomach
8	chr22:30867800-30868400	Enhancers	Spleen	Spleen
9	chr22:30867800-30868600	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr22:30867800-30868600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr22:30868000-30868200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:30868000-30869600	Enhancers	Esophagus	oesophagus

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