Variant report

Variant	rs34633868
Chromosome Location	chr12:9874541-9874542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10161013	0.97[EUR][1000 genomes]
rs10492164	0.83[EUR][1000 genomes]
rs10743828	0.90[EUR][1000 genomes]
rs10772093	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10772099	0.94[EUR][1000 genomes]
rs10844656	0.91[EUR][1000 genomes]
rs1134543	0.83[EUR][1000 genomes]
rs11835594	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304982	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820281	0.94[EUR][1000 genomes]
rs12824727	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377908	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377939	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923367	0.83[EUR][1000 genomes]
rs16927874	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080210	0.82[EUR][1000 genomes]
rs2268145	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401387	0.83[EUR][1000 genomes]
rs2401388	0.83[EUR][1000 genomes]
rs34584384	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35990903	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922289	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611290	0.83[EUR][1000 genomes]
rs4763864	0.81[EUR][1000 genomes]
rs55715780	0.83[EUR][1000 genomes]
rs56980650	0.83[EUR][1000 genomes]
rs59016059	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59210706	0.83[EUR][1000 genomes]
rs6488120	0.81[EUR][1000 genomes]
rs6488121	0.81[EUR][1000 genomes]
rs6488123	0.81[EUR][1000 genomes]
rs6488176	0.88[EUR][1000 genomes]
rs71447599	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71447600	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301386	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74062704	0.83[EUR][1000 genomes]
rs74062708	0.86[EUR][1000 genomes]
rs74065337	0.83[EUR][1000 genomes]
rs74065339	0.83[EUR][1000 genomes]
rs74065340	0.83[EUR][1000 genomes]
rs7962964	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964917	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967436	0.81[EUR][1000 genomes]
rs7969022	0.90[EUR][1000 genomes]
rs7976474	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv442255	chr12:9862078-9874924	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3693109	chr12:9863968-9876091	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34633868	RP11-75L1.2	cis	Whole Blood	GTEx
rs34633868	RP11-75L1.2	cis	Nerve Tibial	GTEx
rs34633868	RP11-75L1.2	cis	Skin Sun Exposed Lower leg	GTEx
rs34633868	RP11-75L1.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:9868600-9879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:9872600-9875400	Enhancers	Fetal Lung	lung
5	chr12:9872600-9875600	Enhancers	HUVEC	blood vessel
6	chr12:9873200-9875400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:9873400-9875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:9873400-9875400	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:9873600-9874600	Enhancers	Placenta	Placenta
10	chr12:9873600-9874800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:9873600-9875200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:9873600-9875400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:9873600-9875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:9873600-9875400	Flanking Active TSS	A549	lung
15	chr12:9873600-9876800	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:9873600-9877600	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:9874000-9874600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:9874000-9874600	Enhancers	HepG2	liver
19	chr12:9874000-9874800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:9874000-9874800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:9874000-9875000	Enhancers	Primary T cells from cord blood	blood
22	chr12:9874200-9874600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:9874200-9874800	Enhancers	Fetal Thymus	thymus
24	chr12:9874200-9874800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:9874400-9875600	Enhancers	Hela-S3	cervix
26	chr12:9874400-9877800	Weak transcription	NHEK	skin
27	chr12:9874400-9878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:9874400-9881400	Enhancers	Primary B cells from cord blood	blood

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