Variant report

Variant	rs7131878
Chromosome Location	chr12:66994814-66994815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10784558	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10878464	0.97[ASN][1000 genomes]
rs10878467	0.97[ASN][1000 genomes]
rs11176328	0.92[ASN][1000 genomes]
rs2029693	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4477518	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4486703	0.91[ASN][1000 genomes]
rs4913276	0.98[ASN][1000 genomes]
rs6581707	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581708	0.88[ASN][1000 genomes]
rs6650228	0.97[ASN][1000 genomes]
rs7300749	0.90[ASN][1000 genomes]
rs7953305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968697	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7974153	0.91[ASN][1000 genomes]
rs7975376	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7978501	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv559207	chr12:66992868-66995266	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	esv19552	chr12:66994805-66995301	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66991400-66995000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:66991600-66995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:66992600-66995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:66993600-66996600	Enhancers	Fetal Brain Female	brain
5	chr12:66994000-66996400	Weak transcription	Fetal Kidney	kidney
6	chr12:66994400-66997000	Enhancers	Brain Germinal Matrix	brain
7	chr12:66994600-66995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:66994600-66995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:66994600-66995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:66994600-66995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:66994600-66995400	Enhancers	Fetal Brain Male	brain
12	chr12:66994600-66995600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:66994800-66995600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:66994800-66995600	Enhancers	Colon Smooth Muscle	Colon
15	chr12:66994800-66996200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:66994800-66996600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:66994800-66996600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:66994800-66997000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:66994800-66997200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:66994800-66997400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:66994800-66997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:66994800-66998000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links