Variant report

Variant	rs4304960
Chromosome Location	chr14:105581048-105581049
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: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	chr14:105581043-105581093	NB4	blood:	n/a
2	chr14:105581043-105581093	GM19239	blood:	n/a
3	chr14:105581043-105581093	CMK	blood:	n/a
4	chr14:105581043-105581093	GM12892	blood:	n/a
5	chr14:105581043-105581093	SK-N-MC	brain:	n/a
6	chr14:105581043-105581093	HPAEpiC	pulmonary alveolar:	n/a
7	chr14:105581043-105581093	NHBE	bronchial:	n/a
8	chr14:105581043-105581093	IMR90	lung:	fetal
9	chr14:105581043-105581093	RPTEC	kidney:	n/a
10	chr14:105581043-105581093	AG09319	gingival:	n/a
11	chr14:105581043-105581093	BE2_C	brain:	n/a
12	chr14:105581043-105581093	GM12878	blood:	n/a
13	chr14:105581043-105581093	GM06990	blood:	n/a
14	chr14:105581043-105581093	SK-N-SH	brain:	n/a
15	chr14:105581043-105581093	HUVEC	blood vessel:	n/a
16	chr14:105581043-105581093	NHDF-neo	bronchial:	n/a
17	chr14:105581043-105581093	HCM	heart:	n/a
18	chr14:105581043-105581093	HL-60	blood:	n/a
19	chr14:105581043-105581093	SKMC	muscle:	n/a
20	chr14:105581043-105581093	Jurkat	blood:	n/a
21	chr14:105581043-105581093	Caco-2	colon:	n/a
22	chr14:105581043-105581093	AG04449	skin:	fetal
23	chr14:105581043-105581093	BJ	skin:	n/a
24	chr14:105581043-105581093	NH-A	brain:	n/a
25	chr14:105581043-105581093	HEEpiC	esophagus:	n/a
26	chr14:105581043-105581093	HRE	kidney:	n/a
27	chr14:105581043-105581093	Hepatocyte	liver:	n/a
28	chr14:105581043-105581093	H1-hESC	embryonic stem cell:	embryo
29	chr14:105581043-105581093	PANC-1	pancreas:	n/a
30	chr14:105581043-105581093	T-47D	breast:	n/a
31	chr14:105581043-105581093	HCF	heart:	n/a
32	chr14:105581043-105581093	SAEC	small airway:	n/a
33	chr14:105581043-105581093	NT2-D1	testis:	n/a
34	chr14:105581043-105581093	ECC-1	luminal epithelium:	n/a
35	chr14:105581043-105581093	HCPEpiC	choroid plexus:	n/a
36	chr14:105581043-105581093	GM12891	blood:	n/a
37	chr14:105581043-105581093	HRCEpiC	kidney:	n/a
38	chr14:105581043-105581093	PrEC	prostate:	n/a
39	chr14:105581043-105581093	AoSMC	blood vessel:	n/a
40	chr14:105581043-105581093	HIPEpiC	eye:	n/a
41	chr14:105581043-105581093	HRPEpiC	eye:	n/a
42	chr14:105581043-105581093	AG09309	skin:	n/a
43	chr14:105581043-105581093	AG04450	lung:	fetal
44	chr14:105581043-105581093	MCF10A-Er-Src	breast:	n/a
45	chr14:105581043-105581093	HMEC	breast:	n/a
46	chr14:105581043-105581093	U87	brain:	n/a
47	chr14:105581043-105581093	AG10803	skin:	n/a
48	chr14:105581043-105581093	A549	lung:	n/a
49	chr14:105581043-105581093	ProgFib	skin:	n/a
50	chr14:105581043-105581093	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105571300..105574874-chr14:105580786..105584672,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258154	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10135442	0.87[EUR][1000 genomes]
rs11160834	0.91[EUR][1000 genomes]
rs12881514	0.92[EUR][1000 genomes]
rs2735802	0.91[EUR][1000 genomes]
rs2816660	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2816661	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816664	0.89[EUR][1000 genomes]
rs2816667	0.91[EUR][1000 genomes]
rs4267251	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4474629	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4983580	0.85[EUR][1000 genomes]
rs8007144	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007509	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
8	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
15	nsv9175	chr14:105496509-105688941	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv902427	chr14:105508577-105585347	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
18	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	nsv902429	chr14:105564734-105602619	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv827083	chr14:105565013-105585277	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv827084	chr14:105565013-105585644	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv832886	chr14:105571958-105606663	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	nsv456460	chr14:105574843-105617042	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
24	nsv566153	chr14:105574843-105617042	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
25	esv3351333	chr14:105577857-105581255	Enhancers Weak transcription Active TSS	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4304960	AHNAK2	cis	cerebellum	SCAN
rs4304960	C14orf2	cis	parietal	SCAN
rs4304960	NUDT14	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105576400-105581200	Weak transcription	Esophagus	oesophagus
2	chr14:105581000-105581800	Enhancers	NHEK	skin

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