Variant report

Variant	rs2771357
Chromosome Location	chr14:21422255-21422256
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: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	chr14:21422205-21422255	CMK	blood:	n/a
2	chr14:21422205-21422255	HIPEpiC	eye:	n/a
3	chr14:21422205-21422255	GM12892	blood:	n/a
4	chr14:21422205-21422255	HCM	heart:	n/a
5	chr14:21422205-21422255	GM06990	blood:	n/a
6	chr14:21422205-21422255	AG04450	lung:	fetal
7	chr14:21422205-21422255	HAEpiC	amniotic membrane:	n/a
8	chr14:21422205-21422255	RPTEC	kidney:	n/a
9	chr14:21422205-21422255	HCF	heart:	n/a
10	chr14:21422205-21422255	SKMC	muscle:	n/a
11	chr14:21422205-21422255	HCT-116	colon:	n/a
12	chr14:21422205-21422255	NT2-D1	testis:	n/a
13	chr14:21422205-21422255	AG09319	gingival:	n/a
14	chr14:21422205-21422255	NH-A	brain:	n/a
15	chr14:21422205-21422255	SK-N-SH_RA	brain:	n/a
16	chr14:21422205-21422255	ovcar-3	ovarian:	n/a
17	chr14:21422205-21422255	HRCEpiC	kidney:	n/a
18	chr14:21422205-21422255	T-47D	breast:	n/a
19	chr14:21422205-21422255	MCF10A-Er-Src	breast:	n/a
20	chr14:21422205-21422255	HRPEpiC	eye:	n/a
21	chr14:21422205-21422255	NHDF-neo	bronchial:	n/a
22	chr14:21422205-21422255	NHBE	bronchial:	n/a
23	chr14:21422205-21422255	PrEC	prostate:	n/a
24	chr14:21422205-21422255	ProgFib	skin:	n/a
25	chr14:21422205-21422255	A549	lung:	n/a
26	chr14:21422205-21422255	ECC-1	luminal epithelium:	n/a
27	chr14:21422205-21422255	MCF-7	breast:	n/a
28	chr14:21422205-21422255	HMEC	breast:	n/a
29	chr14:21422205-21422255	HL-60	blood:	n/a
30	chr14:21422205-21422255	Hepatocyte	liver:	n/a
31	chr14:21422205-21422255	SK-N-SH	brain:	n/a
32	chr14:21422205-21422255	AoSMC	blood vessel:	n/a
33	chr14:21422205-21422255	IMR90	lung:	fetal
34	chr14:21422205-21422255	AG09309	skin:	n/a
35	chr14:21422205-21422255	Caco-2	colon:	n/a
36	chr14:21422205-21422255	NB4	blood:	n/a
37	chr14:21422205-21422255	PFSK-1	brain:	n/a
38	chr14:21422205-21422255	BE2_C	brain:	n/a
39	chr14:21422205-21422255	HCPEpiC	choroid plexus:	n/a
40	chr14:21422205-21422255	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:21422205-21422255	Jurkat	blood:	n/a
42	chr14:21422205-21422255	Hela-S3	cervix:	n/a
43	chr14:21422205-21422255	HNPCEpiC	eye:	n/a
44	chr14:21422205-21422255	GM12878	blood:	n/a
45	chr14:21422205-21422255	GM19239	blood:	n/a
46	chr14:21422205-21422255	HRE	kidney:	n/a
47	chr14:21422205-21422255	AG10803	skin:	n/a
48	chr14:21422205-21422255	AG04449	skin:	fetal
49	chr14:21422205-21422255	HEK293	kidney:	embryo
50	chr14:21422205-21422255	BJ	skin:	n/a

No data

Variant related genes	Relation type
RNASE2	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2771314	1.00[AMR][1000 genomes]
rs73571930	1.00[AMR][1000 genomes]
rs73585979	1.00[AMR][1000 genomes]
rs73586029	1.00[AMR][1000 genomes]
rs74036595	1.00[AMR][1000 genomes]
rs74037713	1.00[AMR][1000 genomes]
rs74037714	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv1039053	chr14:21353099-21425348	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757556	chr14:21353099-21433342	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1046078	chr14:21356244-21425348	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv869714	chr14:21357043-21424185	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv456146	chr14:21361384-21432455	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv563850	chr14:21361384-21432455	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1041776	chr14:21362024-21424718	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv1051890	chr14:21362024-21425348	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv1051920	chr14:21362024-21432455	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv1054330	chr14:21363336-21425348	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv1041682	chr14:21364220-21424718	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1037668	chr14:21364220-21425348	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
30	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
31	nsv826880	chr14:21418111-21426800	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21420000-21423200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr14:21420200-21423200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:21420200-21423600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:21420800-21422400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:21421600-21422400	Weak transcription	Fetal Thymus	thymus
6	chr14:21421800-21423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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