Variant report

Variant	rs7580657
Chromosome Location	chr2:38841803-38841804
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38839551..38842960-chr2:38892269..38895636,5	K562	blood:

Variant related genes	Relation type
ENSG00000143891	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1543881	0.91[AMR][1000 genomes]
rs17576044	0.83[AMR][1000 genomes]
rs17603782	0.91[AMR][1000 genomes]
rs55773228	0.83[AFR][1000 genomes]
rs6710613	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6748685	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72907906	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72907918	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72907929	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73929052	0.91[AMR][1000 genomes]
rs7584862	0.83[AMR][1000 genomes]
rs7594264	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835200-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:38835400-38842000	Weak transcription	HMEC	breast
3	chr2:38835400-38842200	Weak transcription	NHEK	skin
4	chr2:38835400-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:38837800-38842400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:38838600-38842200	Enhancers	Stomach Mucosa	stomach
8	chr2:38838600-38845000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:38839000-38842000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:38839000-38847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:38839200-38842600	Enhancers	HepG2	liver
12	chr2:38839400-38842200	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:38839800-38843400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:38840200-38842200	Weak transcription	GM12878-XiMat	blood
15	chr2:38840400-38842200	Weak transcription	Osteobl	bone
16	chr2:38840600-38842000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:38840600-38842000	Weak transcription	NHDF-Ad	bronchial
18	chr2:38840800-38842000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:38841000-38842000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:38841000-38842000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:38841000-38842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:38841000-38842200	Weak transcription	HSMM	muscle
23	chr2:38841000-38846600	Weak transcription	HSMMtube	muscle
24	chr2:38841200-38843000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:38841200-38846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:38841200-38846600	Weak transcription	NHLF	lung
27	chr2:38841400-38845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:38841600-38843600	Enhancers	K562	blood
29	chr2:38841600-38845600	Weak transcription	Fetal Kidney	kidney
30	chr2:38841800-38844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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