Variant report

Variant	rs3213122
Chromosome Location	chr12:56363666-56363667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56363397..56371565-chr12:56432514..56437993,13	K562	blood:
2	chr12:56362691..56364753-chr12:56492811..56495161,2	K562	blood:
3	chr12:56361700..56363713-chr12:56435997..56439581,3	MCF-7	breast:
4	chr12:56351058..56353733-chr12:56362237..56364160,2	MCF-7	breast:
5	chr12:56362871..56364397-chr12:56400894..56402474,2	MCF-7	breast:
6	chr12:56362653..56364406-chr12:56435895..56438627,2	K562	blood:
7	chr12:56121691..56123442-chr12:56362303..56365050,2	MCF-7	breast:
8	chr12:56363280..56366159-chr12:56473026..56475603,2	MCF-7	breast:
9	chr12:56360624..56364064-chr12:56389013..56391447,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135404	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000257411	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000065361	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11550558	0.90[GIH][hapmap]
rs12309895	1.00[CEU][hapmap]
rs17118206	1.00[CHD][hapmap];0.90[GIH][hapmap]
rs17118208	1.00[CHD][hapmap];0.90[GIH][hapmap]
rs2069391	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs2069398	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3213122	RPS26	cis	multi-tissue	Pritchard
rs3213122	CCDC4	trans	multi-tissue	Pritchard
rs3213122	RPS26P10	trans	multi-tissue	Pritchard
rs3213122	LOC441377	trans	multi-tissue	Pritchard
rs3213122	PMEL	cis	Adipose Subcutaneous	GTEx
rs3213122	LOC441502	trans	multi-tissue	Pritchard
rs3213122	LOC644934	trans	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56361200-56365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:56361200-56366800	Weak transcription	Aorta	Aorta
3	chr12:56361200-56367200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:56361400-56364400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:56361400-56365400	Weak transcription	HSMMtube	muscle
6	chr12:56361400-56366000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:56361400-56366000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:56361400-56366600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:56361400-56366600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:56361400-56366600	Weak transcription	Left Ventricle	heart
11	chr12:56361400-56366600	Weak transcription	Psoas Muscle	Psoas
12	chr12:56361400-56366800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:56361600-56363800	Genic enhancers	Fetal Stomach	stomach
14	chr12:56361600-56365600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:56361600-56366000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:56361600-56366000	Weak transcription	Colonic Mucosa	Colon
17	chr12:56361600-56366000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:56361600-56366200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:56361600-56366200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:56361600-56366200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:56361600-56366400	Weak transcription	Primary B cells from cord blood	blood
22	chr12:56361600-56366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:56361600-56366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:56361800-56364200	Weak transcription	Lung	lung
25	chr12:56361800-56364400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:56361800-56364400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:56361800-56364800	Weak transcription	Adipose Nuclei	Adipose
28	chr12:56361800-56364800	Weak transcription	Ovary	ovary
29	chr12:56361800-56364800	Weak transcription	A549	lung
30	chr12:56361800-56365600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:56361800-56365600	Weak transcription	Fetal Brain Female	brain
32	chr12:56361800-56365800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:56361800-56365800	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:56361800-56365800	Weak transcription	Fetal Brain Male	brain
35	chr12:56361800-56366000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:56361800-56366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:56361800-56366000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:56361800-56366000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:56361800-56366000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:56361800-56366000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:56361800-56366000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:56361800-56366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:56361800-56366600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:56361800-56366600	Weak transcription	Brain Substantia Nigra	brain
45	chr12:56361800-56366600	Weak transcription	Esophagus	oesophagus
46	chr12:56361800-56366600	Weak transcription	Pancreas	Pancrea
47	chr12:56361800-56366600	Weak transcription	Spleen	Spleen
48	chr12:56362000-56364400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:56362000-56364400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:56362000-56365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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