Variant report

Variant	rs12431961
Chromosome Location	chr14:21131451-21131452
allele	A/G
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	chr14:21129167..21132720-chr14:21149519..21152893,4	K562	blood:
2	chr14:21129332..21131936-chr14:21137760..21140289,2	K562	blood:
3	chr14:21109937..21112443-chr14:21129612..21132538,2	MCF-7	breast:
4	chr14:21127873..21132994-chr14:21148256..21153568,11	MCF-7	breast:
5	chr14:21123860..21132198-chr14:21147469..21155122,16	MCF-7	breast:
6	chr14:21130390..21131789-chr14:21158846..21159942,12	MCF-7	breast:
7	chr14:21129167..21131759-chr14:21149519..21152893,3	K562	blood:
8	chr14:21130554..21132780-chr14:21135221..21137012,2	MCF-7	breast:
9	chr14:21131048..21131858-chr14:21158923..21159647,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258818	Chromatin interaction
ENSG00000199461	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000259171	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10498272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12431728	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12433832	0.93[EUR][1000 genomes]
rs12433933	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12437235	0.80[CEU][hapmap];0.84[AMR][1000 genomes]
rs59621901	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571333	0.93[JPT][hapmap]
rs750142	0.85[CHD][hapmap];0.93[JPT][hapmap];0.80[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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv901468	chr14:20997221-21149785	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12431961	OXA1L	cis	cerebellum	SCAN
rs12431961	NDRG2	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21131000-21132000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr14:21131000-21132400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:21131200-21131600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:21131200-21131600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:21131200-21131600	Active TSS	Colonic Mucosa	Colon
6	chr14:21131200-21131600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr14:21131200-21131600	Enhancers	Esophagus	oesophagus
8	chr14:21131200-21131600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:21131200-21131600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr14:21131200-21131800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:21131200-21131800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:21131200-21131800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:21131200-21131800	Active TSS	K562	blood
14	chr14:21131200-21132000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:21131200-21132000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr14:21131200-21132000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr14:21131200-21132000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr14:21131200-21132000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr14:21131200-21132000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
20	chr14:21131200-21132000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
21	chr14:21131200-21132200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:21131200-21132200	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr14:21131200-21132200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:21131200-21132200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:21131200-21132200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr14:21131200-21132200	Flanking Active TSS	GM12878-XiMat	blood
27	chr14:21131200-21132200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr14:21131200-21132400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr14:21131200-21132400	Active TSS	Brain Substantia Nigra	brain
30	chr14:21131200-21132400	Active TSS	NHEK	skin
31	chr14:21131200-21132600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:21131200-21132600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:21131200-21132600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:21131200-21132600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:21131200-21132800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr14:21131200-21132800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr14:21131200-21132800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr14:21131200-21132800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:21131200-21132800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:21131400-21131600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr14:21131400-21131600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr14:21131400-21131600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr14:21131400-21131600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:21131400-21131600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:21131400-21131600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
46	chr14:21131400-21131600	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr14:21131400-21131600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr14:21131400-21131600	Bivalent Enhancer	Fetal Kidney	kidney
49	chr14:21131400-21131600	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr14:21131400-21131600	Active TSS	Right Atrium	heart

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