Variant report

Variant	rs473316
Chromosome Location	chr1:228614123-228614124
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	chr1:228614118-228614168	HNPCEpiC	eye:	n/a
2	chr1:228614118-228614168	GM06990	blood:	n/a
3	chr1:228614118-228614168	HCF	heart:	n/a
4	chr1:228614118-228614168	HEEpiC	esophagus:	n/a
5	chr1:228614118-228614168	HCM	heart:	n/a
6	chr1:228614118-228614168	HMEC	breast:	n/a
7	chr1:228614118-228614168	Hela-S3	cervix:	n/a
8	chr1:228614118-228614168	SK-N-MC	brain:	n/a
9	chr1:228614118-228614168	AG04450	lung:	fetal
10	chr1:228614118-228614168	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:228614118-228614168	HL-60	blood:	n/a
12	chr1:228614118-228614168	A549	lung:	n/a
13	chr1:228614118-228614168	HRE	kidney:	n/a
14	chr1:228614118-228614168	ECC-1	luminal epithelium:	n/a
15	chr1:228614118-228614168	NT2-D1	testis:	n/a
16	chr1:228614118-228614168	HRCEpiC	kidney:	n/a
17	chr1:228614118-228614168	CMK	blood:	n/a
18	chr1:228614118-228614168	HEK293	kidney:	embryo
19	chr1:228614118-228614168	Hepatocyte	liver:	n/a
20	chr1:228614118-228614168	HRPEpiC	eye:	n/a
21	chr1:228614118-228614168	GM12892	blood:	n/a
22	chr1:228614118-228614168	RPTEC	kidney:	n/a
23	chr1:228614118-228614168	HCPEpiC	choroid plexus:	n/a
24	chr1:228614118-228614168	BJ	skin:	n/a
25	chr1:228614118-228614168	Jurkat	blood:	n/a
26	chr1:228614118-228614168	ovcar-3	ovarian:	n/a
27	chr1:228614118-228614168	HAEpiC	amniotic membrane:	n/a
28	chr1:228614118-228614168	NB4	blood:	n/a
29	chr1:228614118-228614168	HCT-116	colon:	n/a
30	chr1:228614118-228614168	PANC-1	pancreas:	n/a
31	chr1:228614118-228614168	AoSMC	blood vessel:	n/a
32	chr1:228614118-228614168	H1-hESC	embryonic stem cell:	embryo
33	chr1:228614118-228614168	SAEC	small airway:	n/a
34	chr1:228614118-228614168	MCF10A-Er-Src	breast:	n/a
35	chr1:228614118-228614168	AG04449	skin:	fetal
36	chr1:228614118-228614168	BE2_C	brain:	n/a
37	chr1:228614118-228614168	MCF-7	breast:	n/a
38	chr1:228614118-228614168	PrEC	prostate:	n/a
39	chr1:228614118-228614168	HepG2	liver:	n/a
40	chr1:228614118-228614168	K562	blood:	n/a
41	chr1:228614118-228614168	SK-N-SH_RA	brain:	n/a
42	chr1:228614118-228614168	AG10803	skin:	n/a
43	chr1:228614118-228614168	T-47D	breast:	n/a
44	chr1:228614118-228614168	AG09319	gingival:	n/a
45	chr1:228614118-228614168	Caco-2	colon:	n/a
46	chr1:228614118-228614168	ProgFib	skin:	n/a
47	chr1:228614118-228614168	GM12891	blood:	n/a
48	chr1:228614118-228614168	LNCaP	prostate:	n/a
49	chr1:228614118-228614168	HIPEpiC	eye:	n/a
50	chr1:228614118-228614168	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
HIST3H3	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10916309	1.00[EUR][1000 genomes]
rs10916310	1.00[EUR][1000 genomes]
rs10916312	1.00[EUR][1000 genomes]
rs10916345	1.00[EUR][1000 genomes]
rs11804099	1.00[EUR][1000 genomes]
rs11808955	1.00[EUR][1000 genomes]
rs1188486	1.00[EUR][1000 genomes]
rs12057947	1.00[EUR][1000 genomes]
rs12064322	1.00[EUR][1000 genomes]
rs12066800	1.00[EUR][1000 genomes]
rs12073379	1.00[EUR][1000 genomes]
rs12074377	1.00[EUR][1000 genomes]
rs12084050	1.00[EUR][1000 genomes]
rs12095133	1.00[EUR][1000 genomes]
rs12095950	1.00[EUR][1000 genomes]
rs16848604	1.00[EUR][1000 genomes]
rs16848741	1.00[EUR][1000 genomes]
rs2087120	1.00[EUR][1000 genomes]
rs34087163	1.00[EUR][1000 genomes]
rs4396117	1.00[EUR][1000 genomes]
rs477699	1.00[EUR][1000 genomes]
rs56690462	1.00[EUR][1000 genomes]
rs56757399	1.00[EUR][1000 genomes]
rs58560450	1.00[EUR][1000 genomes]
rs58670384	1.00[EUR][1000 genomes]
rs59958468	1.00[EUR][1000 genomes]
rs61149796	1.00[EUR][1000 genomes]
rs61416971	1.00[EUR][1000 genomes]
rs6692594	1.00[EUR][1000 genomes]
rs73099694	1.00[EUR][1000 genomes]
rs73101117	1.00[EUR][1000 genomes]
rs74142661	1.00[EUR][1000 genomes]
rs74142677	1.00[EUR][1000 genomes]
rs74144509	1.00[EUR][1000 genomes]
rs7513176	1.00[EUR][1000 genomes]
rs7514849	1.00[EUR][1000 genomes]
rs827827	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer 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	133 gene(s)	inside rSNPs	diseases
5	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
12	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv508697	chr1:228540037-228622614	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228596400-228615400	Weak transcription	A549	lung
2	chr1:228606000-228615800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:228610600-228620400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:228612200-228614200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:228612400-228615600	Weak transcription	HepG2	liver
6	chr1:228612800-228616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:228613000-228621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:228613200-228616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:228613200-228617000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:228613400-228614400	Weak transcription	Placenta	Placenta
11	chr1:228614000-228616000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links