Variant report

Variant	rs2116866
Chromosome Location	chr19:22711979-22711980
allele	A/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	chr19:22711958-22712008	AG04449	skin:	fetal
2	chr19:22711958-22712008	ProgFib	skin:	n/a
3	chr19:22711958-22712008	AoSMC	blood vessel:	n/a
4	chr19:22711958-22712008	HepG2	liver:	n/a
5	chr19:22711958-22712008	AG09319	gingival:	n/a
6	chr19:22711958-22712008	HCT-116	colon:	n/a
7	chr19:22711958-22712008	HAEpiC	amniotic membrane:	n/a
8	chr19:22711958-22712008	MCF-7	breast:	n/a
9	chr19:22711958-22712008	GM12891	blood:	n/a
10	chr19:22711958-22712008	IMR90	lung:	fetal
11	chr19:22711958-22712008	LNCaP	prostate:	n/a
12	chr19:22711958-22712008	HMEC	breast:	n/a
13	chr19:22711958-22712008	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:22711958-22712008	AG09309	skin:	n/a
15	chr19:22711958-22712008	H1-hESC	embryonic stem cell:	embryo
16	chr19:22711958-22712008	HCM	heart:	n/a
17	chr19:22711958-22712008	GM12878	blood:	n/a
18	chr19:22711958-22712008	A549	lung:	n/a
19	chr19:22711958-22712008	AG10803	skin:	n/a
20	chr19:22711958-22712008	NT2-D1	testis:	n/a
21	chr19:22711958-22712008	SKMC	muscle:	n/a
22	chr19:22711958-22712008	NH-A	brain:	n/a
23	chr19:22711958-22712008	RPTEC	kidney:	n/a
24	chr19:22711958-22712008	SK-N-MC	brain:	n/a
25	chr19:22711958-22712008	HEK293	kidney:	embryo
26	chr19:22711958-22712008	BJ	skin:	n/a
27	chr19:22711958-22712008	ECC-1	luminal epithelium:	n/a
28	chr19:22711958-22712008	GM12892	blood:	n/a
29	chr19:22711958-22712008	Jurkat	blood:	n/a
30	chr19:22711958-22712008	SK-N-SH	brain:	n/a
31	chr19:22711958-22712008	AG04450	lung:	fetal
32	chr19:22711958-22712008	SAEC	small airway:	n/a
33	chr19:22711958-22712008	HIPEpiC	eye:	n/a
34	chr19:22711958-22712008	HRPEpiC	eye:	n/a
35	chr19:22711958-22712008	MCF10A-Er-Src	breast:	n/a
36	chr19:22711958-22712008	HUVEC	blood vessel:	n/a
37	chr19:22711958-22712008	PFSK-1	brain:	n/a
38	chr19:22711958-22712008	PANC-1	pancreas:	n/a
39	chr19:22711958-22712008	HEEpiC	esophagus:	n/a
40	chr19:22711958-22712008	NHBE	bronchial:	n/a
41	chr19:22711958-22712008	HRCEpiC	kidney:	n/a
42	chr19:22711958-22712008	NB4	blood:	n/a
43	chr19:22711958-22712008	GM19239	blood:	n/a
44	chr19:22711958-22712008	HRE	kidney:	n/a
45	chr19:22711958-22712008	GM06990	blood:	n/a
46	chr19:22711958-22712008	Caco-2	colon:	n/a
47	chr19:22711958-22712008	Hepatocyte	liver:	n/a
48	chr19:22711958-22712008	BE2_C	brain:	n/a
49	chr19:22711958-22712008	Hela-S3	cervix:	n/a
50	chr19:22711958-22712008	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000260599	CpG island
ENSG00000269364	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10401783	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10402896	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10410595	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10417510	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422124	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11667693	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11670200	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11881824	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12459418	0.83[ASN][1000 genomes]
rs2116863	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250390	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73013307	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360126	chr19:22209871-23199213	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3333410	chr19:22213338-23199725	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv525240	chr19:22250912-23216667	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
4	esv3363663	chr19:22320301-23103053	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv911439	chr19:22325391-22820798	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv911440	chr19:22325391-23216667	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv819194	chr19:22336264-23223696	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv911442	chr19:22338142-22801310	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv911443	chr19:22338142-22899585	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv911444	chr19:22338142-23198437	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv911445	chr19:22346403-22899585	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv819205	chr19:22346403-23199700	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv1064071	chr19:22359491-23153773	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
14	nsv543957	chr19:22359491-23153773	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv932157	chr19:22359492-23192975	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
16	esv3387241	chr19:22383621-23175441	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
17	nsv1059925	chr19:22408435-23083293	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
18	nsv1056393	chr19:22408435-23106126	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
19	nsv911448	chr19:22622753-22799293	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	esv3496801	chr19:22635989-23028182	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
21	esv3496802	chr19:22635989-23028182	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
22	nsv833787	chr19:22639018-22812145	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	esv3529242	chr19:22650256-22863256	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	esv3529243	chr19:22650256-22863256	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1060550	chr19:22675311-22811229	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv9681	chr19:22708724-22716078	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22708600-22716200	Active TSS	Ovary	ovary
2	chr19:22709600-22716200	Active TSS	Aorta	Aorta
3	chr19:22710600-22714800	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:22710800-22712200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:22711600-22714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:22711800-22712000	ZNF genes & repeats	Right Atrium	heart
7	chr19:22711800-22712800	Active TSS	Pancreas	Pancrea
8	chr19:22711800-22716200	Active TSS	Pancreatic Islets	Pancreatic Islet

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