Variant report

Variant	rs13346363
Chromosome Location	chr19:22800648-22800649
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	chr19:22800629-22800679	HMEC	breast:	n/a
2	chr19:22800629-22800679	HUVEC	blood vessel:	n/a
3	chr19:22800629-22800679	SK-N-MC	brain:	n/a
4	chr19:22800629-22800679	AoSMC	blood vessel:	n/a
5	chr19:22800629-22800679	Hela-S3	cervix:	n/a
6	chr19:22800629-22800679	PFSK-1	brain:	n/a
7	chr19:22800629-22800679	AG04449	skin:	fetal
8	chr19:22800629-22800679	HCF	heart:	n/a
9	chr19:22800629-22800679	Caco-2	colon:	n/a
10	chr19:22800629-22800679	AG09309	skin:	n/a
11	chr19:22800629-22800679	HIPEpiC	eye:	n/a
12	chr19:22800629-22800679	SK-N-SH_RA	brain:	n/a
13	chr19:22800629-22800679	LNCaP	prostate:	n/a
14	chr19:22800629-22800679	IMR90	lung:	fetal
15	chr19:22800629-22800679	MCF-7	breast:	n/a
16	chr19:22800629-22800679	AG09319	gingival:	n/a
17	chr19:22800629-22800679	HRE	kidney:	n/a
18	chr19:22800629-22800679	BE2_C	brain:	n/a
19	chr19:22800629-22800679	HCPEpiC	choroid plexus:	n/a
20	chr19:22800629-22800679	NHBE	bronchial:	n/a
21	chr19:22800629-22800679	GM12878	blood:	n/a
22	chr19:22800629-22800679	HRPEpiC	eye:	n/a
23	chr19:22800629-22800679	NT2-D1	testis:	n/a
24	chr19:22800629-22800679	GM12891	blood:	n/a
25	chr19:22800629-22800679	PrEC	prostate:	n/a
26	chr19:22800629-22800679	RPTEC	kidney:	n/a
27	chr19:22800629-22800679	NB4	blood:	n/a
28	chr19:22800629-22800679	HL-60	blood:	n/a
29	chr19:22800629-22800679	T-47D	breast:	n/a
30	chr19:22800629-22800679	Hepatocyte	liver:	n/a
31	chr19:22800629-22800679	HAEpiC	amniotic membrane:	n/a
32	chr19:22800629-22800679	K562	blood:	n/a
33	chr19:22800629-22800679	ProgFib	skin:	n/a
34	chr19:22800629-22800679	HEEpiC	esophagus:	n/a
35	chr19:22800629-22800679	NH-A	brain:	n/a
36	chr19:22800629-22800679	U87	brain:	n/a
37	chr19:22800629-22800679	A549	lung:	n/a
38	chr19:22800629-22800679	SKMC	muscle:	n/a
39	chr19:22800629-22800679	H1-hESC	embryonic stem cell:	embryo
40	chr19:22800629-22800679	ECC-1	luminal epithelium:	n/a
41	chr19:22800629-22800679	PANC-1	pancreas:	n/a
42	chr19:22800629-22800679	GM06990	blood:	n/a
43	chr19:22800629-22800679	AG04450	lung:	fetal
44	chr19:22800629-22800679	HRCEpiC	kidney:	n/a
45	chr19:22800629-22800679	Jurkat	blood:	n/a
46	chr19:22800629-22800679	CMK	blood:	n/a
47	chr19:22800629-22800679	SK-N-SH	brain:	n/a
48	chr19:22800629-22800679	MCF10A-Er-Src	breast:	n/a
49	chr19:22800629-22800679	GM19239	blood:	n/a
50	chr19:22800629-22800679	HCM	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000268589	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10401523	1.00[EUR][1000 genomes]
rs10401624	1.00[EUR][1000 genomes]
rs10402002	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10403670	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10405663	1.00[EUR][1000 genomes]
rs10406044	1.00[EUR][1000 genomes]
rs10406084	1.00[EUR][1000 genomes]
rs10407095	1.00[EUR][1000 genomes]
rs10407123	1.00[EUR][1000 genomes]
rs10407302	1.00[EUR][1000 genomes]
rs10407352	1.00[EUR][1000 genomes]
rs10408760	1.00[EUR][1000 genomes]
rs10411593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413062	1.00[EUR][1000 genomes]
rs10414574	1.00[EUR][1000 genomes]
rs10414814	1.00[EUR][1000 genomes]
rs10416398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417020	1.00[EUR][1000 genomes]
rs10418938	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10421799	1.00[EUR][1000 genomes]
rs10423345	1.00[EUR][1000 genomes]
rs10426035	1.00[EUR][1000 genomes]
rs10426891	1.00[EUR][1000 genomes]
rs11879495	1.00[EUR][1000 genomes]
rs11882482	1.00[EUR][1000 genomes]
rs11883040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346338	0.92[AFR][1000 genomes]
rs13346578	1.00[EUR][1000 genomes]
rs13346622	1.00[EUR][1000 genomes]
rs28462025	1.00[EUR][1000 genomes]
rs28530510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621518	1.00[EUR][1000 genomes]
rs28729362	1.00[EUR][1000 genomes]
rs28792716	1.00[EUR][1000 genomes]
rs28798232	1.00[EUR][1000 genomes]
rs28814309	1.00[EUR][1000 genomes]
rs28814399	1.00[EUR][1000 genomes]
rs28872527	1.00[EUR][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	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
20	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
21	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
22	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
23	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
24	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
25	esv1812224	chr19:22775866-22807982	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
26	esv1844444	chr19:22775866-22807982	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22799400-22801000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:22799600-22801200	ZNF genes & repeats	Colonic Mucosa	Colon
3	chr19:22799800-22801800	Enhancers	Ovary	ovary
4	chr19:22800200-22800800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr19:22800200-22801200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr19:22800400-22801000	Active TSS	Adipose Nuclei	Adipose
7	chr19:22800400-22801200	ZNF genes & repeats	Right Atrium	heart
8	chr19:22800400-22801200	ZNF genes & repeats	Spleen	Spleen
9	chr19:22800600-22800800	Enhancers	Pancreas	Pancrea
10	chr19:22800600-22801000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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