Variant report

Variant	rs7533434
Chromosome Location	chr1:212871752-212871753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
2	chr1:212865556..212867815-chr1:212870063..212872235,2	MCF-7	breast:
3	chr1:212779956..212783547-chr1:212870276..212874584,4	K562	blood:
4	chr1:212860743..212863058-chr1:212869735..212872128,3	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000123685	Chromatin interaction
ENSG00000207491	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12128789	0.87[EUR][1000 genomes]
rs12133919	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202683	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2221593	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3768547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079851	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212858600-212872200	Weak transcription	Gastric	stomach
2	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
3	chr1:212863400-212872200	Weak transcription	Spleen	Spleen
4	chr1:212866800-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:212867000-212872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:212867200-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:212869400-212872000	Weak transcription	Right Atrium	heart
8	chr1:212870000-212872600	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:212870200-212872200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:212870400-212872000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:212870400-212872000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:212870800-212871800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:212870800-212872000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:212871000-212872000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:212871000-212872000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:212871000-212872000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr1:212871000-212872000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:212871200-212872200	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:212871200-212872200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:212871400-212871800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:212871400-212872000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:212871400-212872000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr1:212871400-212872200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:212871400-212872200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr1:212871400-212872200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
26	chr1:212871400-212872400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:212871600-212871800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
28	chr1:212871600-212871800	Enhancers	Dnd41	blood
29	chr1:212871600-212871800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr1:212871600-212872000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr1:212871600-212872000	Enhancers	NHLF	lung
32	chr1:212871600-212872200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:212871600-212872200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:212871600-212872200	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr1:212871600-212872400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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