Variant report

Variant	rs2707058
Chromosome Location	chr12:122281188-122281189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122233750..122235610-chr12:122279826..122282570,2	K562	blood:
2	chr12:122270278..122272801-chr12:122280369..122282682,2	K562	blood:

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10431199	0.87[CHD][hapmap];1.00[TSI][hapmap]
rs11043229	1.00[CEU][hapmap];0.87[CHD][hapmap]
rs11043237	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11043255	1.00[CEU][hapmap]
rs11043285	0.87[CHD][hapmap];1.00[TSI][hapmap]
rs11043286	0.87[CHD][hapmap];1.00[TSI][hapmap]
rs1610041	0.82[CHD][hapmap]
rs3847694	0.82[CHD][hapmap]
rs4069668	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap]
rs7137708	1.00[TSI][hapmap]
rs7958406	1.00[CEU][hapmap]
rs7971538	0.94[CHD][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2707058	CLIP1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122281200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:122278200-122281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:122278200-122281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:122278200-122281800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
6	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:122278400-122281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:122278400-122281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:122278400-122281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:122278400-122281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:122278400-122283600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
13	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:122278600-122281200	Weak transcription	Placenta	Placenta
15	chr12:122278600-122283600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:122278800-122281200	Enhancers	K562	blood
17	chr12:122278800-122283000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:122278800-122283400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:122278800-122283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:122278800-122283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
22	chr12:122280400-122281800	Strong transcription	HepG2	liver
23	chr12:122281000-122281400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:122281000-122281400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:122281000-122281600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:122281000-122281600	Enhancers	A549	lung
27	chr12:122281000-122281800	Genic enhancers	Liver	Liver
28	chr12:122281000-122281800	Enhancers	Placenta Amnion	Placenta Amnion

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