Variant report

Variant	rs7581419
Chromosome Location	chr2:38838490-38838491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38837127..38838954-chr2:38973013..38975541,2	K562	blood:
2	chr2:38830091..38832083-chr2:38838036..38840443,2	MCF-7	breast:
3	chr2:38832813..38836255-chr2:38838239..38840067,3	MCF-7	breast:
4	chr2:38837653..38839575-chr2:38845023..38848760,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143889	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13427352	0.91[EUR][1000 genomes]
rs17022876	0.92[EUR][1000 genomes]
rs17022893	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022951	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022999	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278359	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55992451	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56131922	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58563643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58917023	0.88[ASN][1000 genomes]
rs59036182	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706212	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6751824	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72907944	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72909820	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73930139	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73931608	1.00[EUR][1000 genomes]
rs7566216	0.82[EUR][1000 genomes]
rs7586285	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594594	1.00[EUR][1000 genomes]
rs9789634	0.81[AMR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38830800-38838600	Weak transcription	Stomach Mucosa	stomach
2	chr2:38831200-38840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:38831200-38840600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:38831400-38838600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:38831400-38838800	Weak transcription	Lung	lung
6	chr2:38831400-38840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:38831400-38840800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:38832800-38839400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:38834600-38838600	Enhancers	HepG2	liver
10	chr2:38835200-38838600	Weak transcription	HSMM	muscle
11	chr2:38835200-38838600	Weak transcription	K562	blood
12	chr2:38835200-38838800	Weak transcription	HSMMtube	muscle
13	chr2:38835200-38839400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:38835200-38840000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:38835200-38840000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:38835200-38840000	Weak transcription	NHLF	lung
17	chr2:38835200-38840400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:38835200-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:38835400-38842000	Weak transcription	HMEC	breast
20	chr2:38835400-38842200	Weak transcription	NHEK	skin
21	chr2:38835400-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:38835800-38839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:38836200-38838600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:38836600-38838800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:38837400-38838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:38837600-38838800	Enhancers	GM12878-XiMat	blood
28	chr2:38837800-38838600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:38837800-38839800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:38837800-38842400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:38838000-38838800	Enhancers	Liver	Liver
32	chr2:38838200-38838600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:38838200-38839000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:38838200-38839000	Enhancers	Small Intestine	intestine
35	chr2:38838200-38839200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:38838200-38840200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:38838400-38839000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:38838400-38839000	Enhancers	Osteobl	bone

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