Variant report

Variant	rs17277228
Chromosome Location	chr14:20692643-20692644
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	chr14:20692622-20692672	AoSMC	blood vessel:	n/a
2	chr14:20692622-20692672	MCF10A-Er-Src	breast:	n/a
3	chr14:20692622-20692672	SK-N-SH_RA	brain:	n/a
4	chr14:20692622-20692672	HPAEpiC	pulmonary alveolar:	n/a
5	chr14:20692622-20692672	Caco-2	colon:	n/a
6	chr14:20692622-20692672	T-47D	breast:	n/a
7	chr14:20692622-20692672	PrEC	prostate:	n/a
8	chr14:20692622-20692672	Hepatocyte	liver:	n/a
9	chr14:20692622-20692672	HCM	heart:	n/a
10	chr14:20692622-20692672	HRCEpiC	kidney:	n/a
11	chr14:20692622-20692672	ECC-1	luminal epithelium:	n/a
12	chr14:20692622-20692672	NB4	blood:	n/a
13	chr14:20692622-20692672	AG09319	gingival:	n/a
14	chr14:20692622-20692672	RPTEC	kidney:	n/a
15	chr14:20692622-20692672	PFSK-1	brain:	n/a
16	chr14:20692622-20692672	AG04449	skin:	fetal
17	chr14:20692622-20692672	ProgFib	skin:	n/a
18	chr14:20692622-20692672	SKMC	muscle:	n/a
19	chr14:20692622-20692672	HAEpiC	amniotic membrane:	n/a
20	chr14:20692622-20692672	NT2-D1	testis:	n/a
21	chr14:20692622-20692672	HEEpiC	esophagus:	n/a
22	chr14:20692622-20692672	HL-60	blood:	n/a
23	chr14:20692622-20692672	AG10803	skin:	n/a
24	chr14:20692622-20692672	NH-A	brain:	n/a
25	chr14:20692622-20692672	GM06990	blood:	n/a
26	chr14:20692622-20692672	GM12878	blood:	n/a
27	chr14:20692622-20692672	HRPEpiC	eye:	n/a
28	chr14:20692622-20692672	IMR90	lung:	fetal
29	chr14:20692622-20692672	NHDF-neo	bronchial:	n/a
30	chr14:20692622-20692672	HCF	heart:	n/a
31	chr14:20692622-20692672	AG04450	lung:	fetal
32	chr14:20692622-20692672	LNCaP	prostate:	n/a
33	chr14:20692622-20692672	HCPEpiC	choroid plexus:	n/a
34	chr14:20692622-20692672	CMK	blood:	n/a
35	chr14:20692622-20692672	HMEC	breast:	n/a
36	chr14:20692622-20692672	HNPCEpiC	eye:	n/a
37	chr14:20692622-20692672	SK-N-MC	brain:	n/a
38	chr14:20692622-20692672	BJ	skin:	n/a
39	chr14:20692622-20692672	HCT-116	colon:	n/a
40	chr14:20692622-20692672	HUVEC	blood vessel:	n/a
41	chr14:20692622-20692672	GM12891	blood:	n/a
42	chr14:20692622-20692672	K562	blood:	n/a
43	chr14:20692622-20692672	H1-hESC	embryonic stem cell:	embryo
44	chr14:20692622-20692672	SK-N-SH	brain:	n/a
45	chr14:20692622-20692672	HIPEpiC	eye:	n/a
46	chr14:20692622-20692672	U87	brain:	n/a
47	chr14:20692622-20692672	ovcar-3	ovarian:	n/a
48	chr14:20692622-20692672	HRE	kidney:	n/a
49	chr14:20692622-20692672	BE2_C	brain:	n/a
50	chr14:20692622-20692672	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:

No data

Variant related genes	Relation type
OR11H7	CpG island
ENSG00000258806	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10131951	0.86[JPT][hapmap]
rs10141571	0.86[JPT][hapmap]
rs10498266	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432119	0.84[JPT][hapmap]
rs12433799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12436141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12437363	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs12590453	0.92[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap]
rs12878196	0.80[JPT][hapmap]
rs12889163	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891553	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894566	0.85[JPT][hapmap]
rs12897942	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106268	0.89[YRI][hapmap]
rs17211285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17277207	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs17277221	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953558	0.80[JPT][hapmap]
rs1953559	0.80[JPT][hapmap]
rs1959344	0.80[JPT][hapmap]
rs1959347	0.85[JPT][hapmap]
rs2184671	0.83[LWK][hapmap];0.89[YRI][hapmap]
rs34693535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981839	0.86[JPT][hapmap]
rs4981844	0.80[JPT][hapmap]
rs58902983	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8020960	0.88[ASN][1000 genomes]
rs945462	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2751268	chr14:20203125-20716841	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
4	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
5	nsv563812	chr14:20404091-20694968	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv563829	chr14:20445370-20694968	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
10	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
11	nsv832739	chr14:20604126-20734222	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv901466	chr14:20656645-20707100	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv456144	chr14:20684277-20709118	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv563844	chr14:20684277-20709118	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv456145	chr14:20684277-20712322	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv563845	chr14:20684277-20712322	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1055102	chr14:20687007-20743269	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv901467	chr14:20687978-20719360	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1052883	chr14:20689721-20743269	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv974433	chr14:20691427-20698541	Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv916964	chr14:20691437-20716830	Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17277228	RNASE10	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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