Variant report

Variant	rs2284954
Chromosome Location	chr14:21359296-21359297
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	chr14:21359295-21359345	Caco-2	colon:	n/a
2	chr14:21359295-21359345	BJ	skin:	n/a
3	chr14:21359295-21359345	AoSMC	blood vessel:	n/a
4	chr14:21359295-21359345	SAEC	small airway:	n/a
5	chr14:21359295-21359345	Hepatocyte	liver:	n/a
6	chr14:21359295-21359345	HepG2	liver:	n/a
7	chr14:21359295-21359345	A549	lung:	n/a
8	chr14:21359295-21359345	Hela-S3	cervix:	n/a
9	chr14:21359295-21359345	GM12892	blood:	n/a
10	chr14:21359295-21359345	HRE	kidney:	n/a
11	chr14:21359295-21359345	HEK293	kidney:	embryo
12	chr14:21359295-21359345	LNCaP	prostate:	n/a
13	chr14:21359295-21359345	AG10803	skin:	n/a
14	chr14:21359295-21359345	SK-N-SH_RA	brain:	n/a
15	chr14:21359295-21359345	BE2_C	brain:	n/a
16	chr14:21359295-21359345	PrEC	prostate:	n/a
17	chr14:21359295-21359345	ProgFib	skin:	n/a
18	chr14:21359295-21359345	GM06990	blood:	n/a
19	chr14:21359295-21359345	U87	brain:	n/a
20	chr14:21359295-21359345	SKMC	muscle:	n/a
21	chr14:21359295-21359345	ECC-1	luminal epithelium:	n/a
22	chr14:21359295-21359345	AG09309	skin:	n/a
23	chr14:21359295-21359345	PANC-1	pancreas:	n/a
24	chr14:21359295-21359345	HUVEC	blood vessel:	n/a
25	chr14:21359295-21359345	HCF	heart:	n/a
26	chr14:21359295-21359345	AG09319	gingival:	n/a
27	chr14:21359295-21359345	HCPEpiC	choroid plexus:	n/a
28	chr14:21359295-21359345	HAEpiC	amniotic membrane:	n/a
29	chr14:21359295-21359345	SK-N-SH	brain:	n/a
30	chr14:21359295-21359345	HCM	heart:	n/a
31	chr14:21359295-21359345	GM12878	blood:	n/a
32	chr14:21359295-21359345	HRPEpiC	eye:	n/a
33	chr14:21359295-21359345	HPAEpiC	pulmonary alveolar:	n/a
34	chr14:21359295-21359345	NB4	blood:	n/a
35	chr14:21359295-21359345	HEEpiC	esophagus:	n/a
36	chr14:21359295-21359345	T-47D	breast:	n/a
37	chr14:21359295-21359345	HMEC	breast:	n/a
38	chr14:21359295-21359345	H1-hESC	embryonic stem cell:	embryo
39	chr14:21359295-21359345	NHBE	bronchial:	n/a
40	chr14:21359295-21359345	Jurkat	blood:	n/a
41	chr14:21359295-21359345	NHDF-neo	bronchial:	n/a
42	chr14:21359295-21359345	K562	blood:	n/a
43	chr14:21359295-21359345	HL-60	blood:	n/a
44	chr14:21359295-21359345	SK-N-MC	brain:	n/a
45	chr14:21359295-21359345	RPTEC	kidney:	n/a
46	chr14:21359295-21359345	PFSK-1	brain:	n/a
47	chr14:21359295-21359345	AG04449	skin:	fetal
48	chr14:21359295-21359345	MCF10A-Er-Src	breast:	n/a
49	chr14:21359295-21359345	HCT-116	colon:	n/a
50	chr14:21359295-21359345	GM19239	blood:	n/a

No data

Variant related genes	Relation type
RNASE3	CpG island

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10147981	0.88[EUR][1000 genomes]
rs10459476	0.86[EUR][1000 genomes]
rs10459477	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10782378	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11156753	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12435821	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12882380	0.88[EUR][1000 genomes]
rs12887160	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889286	0.82[EUR][1000 genomes]
rs12890922	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2007798	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073342	0.94[EUR][1000 genomes]
rs2281643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34088614	0.80[EUR][1000 genomes]
rs3748340	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3748341	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4982376	0.92[EUR][1000 genomes]
rs4982378	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61980361	0.83[ASN][1000 genomes]
rs7146790	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8005768	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1036728	chr14:21338459-21409969	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1045451	chr14:21340639-21402584	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv9121	chr14:21341903-21426649	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv983967	chr14:21341911-21433655	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870262	chr14:21341929-21412012	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv901471	chr14:21343164-21405885	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv817619	chr14:21343164-21413602	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv517174	chr14:21343164-21421088	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1204	chr14:21343404-21417608	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv826873	chr14:21343499-21423338	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv826874	chr14:21343778-21418218	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv1050170	chr14:21345707-21402584	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1045545	chr14:21345707-21409969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	esv2760325	chr14:21345707-21425348	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv1037798	chr14:21345707-21425348	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv3447003	chr14:21346068-21409779	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv901472	chr14:21348256-21413602	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv901473	chr14:21348256-21419654	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv826876	chr14:21348259-21412212	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv1040201	chr14:21348673-21402584	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv1047105	chr14:21348673-21409969	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv1047033	chr14:21348673-21425348	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	esv3511987	chr14:21348712-21380210	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv1038895	chr14:21348944-21409969	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv3511988	chr14:21349162-21379760	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
34	esv3511989	chr14:21349162-21379760	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
35	esv3389099	chr14:21349162-21414660	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
36	esv2761588	chr14:21349517-21409981	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
37	esv3584663	chr14:21349606-21409981	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
38	nsv442680	chr14:21349606-21409981	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
39	nsv1040447	chr14:21349608-21402584	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
40	nsv1052371	chr14:21349608-21408944	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv1050407	chr14:21349608-21409969	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
42	nsv1037218	chr14:21349608-21417022	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
43	nsv1050460	chr14:21349608-21425348	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
44	esv20871	chr14:21349660-21423513	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
45	nsv498822	chr14:21349675-21413835	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
46	esv3511205	chr14:21350813-21414167	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
47	esv3511206	chr14:21350813-21414167	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
48	esv3486421	chr14:21350912-21380310	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
49	esv3486422	chr14:21350912-21380310	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
50	esv2755777	chr14:21353060-21364260	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2284954	RP11-84C10.2	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21356000-21362200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:21356800-21359400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:21358600-21359600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:21359200-21360400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links