Variant report

Variant	rs36030036
Chromosome Location	chr12:74928883-74928884
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	chr12:74928835-74928885	NHBE	bronchial:	n/a
2	chr12:74928835-74928885	GM19239	blood:	n/a
3	chr12:74928835-74928885	HL-60	blood:	n/a
4	chr12:74928835-74928885	HCF	heart:	n/a
5	chr12:74928835-74928885	NB4	blood:	n/a
6	chr12:74928835-74928885	GM12878	blood:	n/a
7	chr12:74928835-74928885	Caco-2	colon:	n/a
8	chr12:74928835-74928885	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:74928835-74928885	BE2_C	brain:	n/a
10	chr12:74928835-74928885	HRPEpiC	eye:	n/a
11	chr12:74928835-74928885	AG04450	lung:	fetal
12	chr12:74928835-74928885	PrEC	prostate:	n/a
13	chr12:74928835-74928885	HCPEpiC	choroid plexus:	n/a
14	chr12:74928835-74928885	HRE	kidney:	n/a
15	chr12:74928835-74928885	U87	brain:	n/a
16	chr12:74928835-74928885	HUVEC	blood vessel:	n/a
17	chr12:74928835-74928885	GM06990	blood:	n/a
18	chr12:74928835-74928885	HAEpiC	amniotic membrane:	n/a
19	chr12:74928835-74928885	IMR90	lung:	fetal
20	chr12:74928835-74928885	AG09309	skin:	n/a
21	chr12:74928835-74928885	GM12892	blood:	n/a
22	chr12:74928835-74928885	K562	blood:	n/a
23	chr12:74928835-74928885	Hepatocyte	liver:	n/a
24	chr12:74928835-74928885	H1-hESC	embryonic stem cell:	embryo
25	chr12:74928835-74928885	HEK293	kidney:	embryo
26	chr12:74928835-74928885	CMK	blood:	n/a
27	chr12:74928835-74928885	GM12891	blood:	n/a
28	chr12:74928835-74928885	SK-N-SH	brain:	n/a
29	chr12:74928835-74928885	MCF-7	breast:	n/a
30	chr12:74928835-74928885	ProgFib	skin:	n/a
31	chr12:74928835-74928885	NH-A	brain:	n/a
32	chr12:74928835-74928885	HEEpiC	esophagus:	n/a
33	chr12:74928835-74928885	AG10803	skin:	n/a
34	chr12:74928835-74928885	LNCaP	prostate:	n/a
35	chr12:74928835-74928885	AoSMC	blood vessel:	n/a
36	chr12:74928835-74928885	T-47D	breast:	n/a
37	chr12:74928835-74928885	ECC-1	luminal epithelium:	n/a
38	chr12:74928835-74928885	PFSK-1	brain:	n/a
39	chr12:74928835-74928885	ovcar-3	ovarian:	n/a
40	chr12:74928835-74928885	HRCEpiC	kidney:	n/a
41	chr12:74928835-74928885	MCF10A-Er-Src	breast:	n/a
42	chr12:74928835-74928885	SK-N-MC	brain:	n/a
43	chr12:74928835-74928885	HNPCEpiC	eye:	n/a
44	chr12:74928835-74928885	BJ	skin:	n/a
45	chr12:74928835-74928885	SAEC	small airway:	n/a
46	chr12:74928835-74928885	HCM	heart:	n/a
47	chr12:74928835-74928885	Hela-S3	cervix:	n/a
48	chr12:74928835-74928885	HMEC	breast:	n/a
49	chr12:74928835-74928885	AG04449	skin:	fetal
50	chr12:74928835-74928885	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
ATXN7L3B	CpG island

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10506693	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12809241	0.81[ASN][1000 genomes]
rs12825946	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1493796	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1493801	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1493810	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17113674	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17113675	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17113679	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17113748	0.81[ASN][1000 genomes]
rs1824539	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061579	0.81[ASN][1000 genomes]
rs2126136	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2365919	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2605381	0.87[ASN][1000 genomes]
rs34706013	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35454023	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35957931	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36153793	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4547177	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58783285	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590352	0.87[ASN][1000 genomes]
rs60905363	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132047	0.81[ASN][1000 genomes]
rs725181	0.81[ASN][1000 genomes]
rs7295970	0.81[ASN][1000 genomes]
rs7300059	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7304361	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7962722	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9668146	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
8	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links