Variant report

Variant	rs2641470
Chromosome Location	chr12:74941851-74941852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74938864..74942058-chr12:74943211..74947418,4	K562	blood:
2	chr12:74934002..74935915-chr12:74937667..74942932,5	K562	blood:
3	chr12:74933499..74938752-chr12:74938991..74943644,10	K562	blood:
4	chr12:74941646..74944440-chr12:74957364..74960254,2	K562	blood:
5	chr12:74939663..74942006-chr12:74944132..74946349,2	MCF-7	breast:
6	chr12:74936725..74942637-chr12:74943509..74950364,10	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12809241	0.87[ASN][1000 genomes]
rs1493796	0.80[ASN][1000 genomes]
rs17113748	0.87[ASN][1000 genomes]
rs17113750	0.84[ASN][1000 genomes]
rs2061579	0.87[ASN][1000 genomes]
rs2605375	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2605381	0.82[ASN][1000 genomes]
rs2613902	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2641471	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4882643	0.84[ASN][1000 genomes]
rs590352	0.82[ASN][1000 genomes]
rs67506065	0.84[ASN][1000 genomes]
rs7132047	0.87[ASN][1000 genomes]
rs725181	0.87[ASN][1000 genomes]
rs7295970	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
5	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2641470	ATXN7L3B	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74933800-74942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:74934200-74942000	Weak transcription	Ovary	ovary
3	chr12:74935200-74942200	Weak transcription	Psoas Muscle	Psoas
4	chr12:74935200-74942600	Weak transcription	Small Intestine	intestine
5	chr12:74935200-74943600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:74935200-74945000	Weak transcription	Left Ventricle	heart
7	chr12:74935400-74942600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:74935600-74942000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:74935600-74942400	Weak transcription	NHDF-Ad	bronchial
10	chr12:74935600-74943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:74935800-74942800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:74936000-74942200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:74936000-74942400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:74936000-74942600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:74936000-74945600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:74936200-74942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:74936200-74943600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:74936400-74942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:74936400-74945000	Weak transcription	Fetal Heart	heart
20	chr12:74936600-74942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:74936800-74942000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:74936800-74942600	Weak transcription	Liver	Liver
23	chr12:74936800-74943000	Weak transcription	Primary T cells from cord blood	blood
24	chr12:74936800-74943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:74937200-74942600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:74937600-74944400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:74937600-74944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:74937800-74942800	Weak transcription	HSMM	muscle

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