Variant report

Variant	rs3946543
Chromosome Location	chr12:30323527-30323528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10843647	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050694	0.80[EUR][1000 genomes]
rs11050702	0.85[EUR][1000 genomes]
rs11050703	0.85[EUR][1000 genomes]
rs11050704	0.85[EUR][1000 genomes]
rs11050705	0.85[EUR][1000 genomes]
rs12368455	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12368624	0.85[EUR][1000 genomes]
rs12371944	0.86[EUR][1000 genomes]
rs1351968	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1351974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1385561	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485402	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1485410	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1533716	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533717	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533718	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533719	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1554434	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17457272	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872443	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1879426	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1968879	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1973269	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1996701	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2200413	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351219	0.85[EUR][1000 genomes]
rs4931289	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970388	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980346	0.96[EUR][1000 genomes]
rs9783442	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050757	chr12:30288879-30329142	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1035561	chr12:30288879-30336486	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30322400-30323600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:30322400-30323800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:30322600-30323600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:30322600-30323600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:30322600-30323800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:30322600-30323800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:30322800-30323600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:30322800-30323600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:30322800-30323600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr12:30322800-30323600	Bivalent Enhancer	Lung	lung
11	chr12:30322800-30323600	Enhancers	Pancreas	Pancrea
12	chr12:30322800-30323800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr12:30322800-30323800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:30323000-30323600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:30323000-30323600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:30323000-30323600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr12:30323000-30323600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr12:30323200-30323600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:30323200-30323600	Bivalent Enhancer	Psoas Muscle	Psoas
20	chr12:30323400-30323600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:30323400-30323800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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