Variant report

Variant	rs7295970
Chromosome Location	chr12:74941492-74941493
allele	A/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	chr12:74939663..74942006-chr12:74944132..74946349,2	MCF-7	breast:
5	chr12:74936725..74942637-chr12:74943509..74950364,10	MCF-7	breast:
6	chr12:74929872..74931969-chr12:74938974..74941515,3	K562	blood:

Variant related genes	Relation type
ENSG00000253719	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1044583	0.84[YRI][hapmap];0.89[AFR][1000 genomes]
rs10506693	0.84[ASN][1000 genomes]
rs12809241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1493796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1493801	0.85[ASN][1000 genomes]
rs1493810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17113674	0.88[ASN][1000 genomes]
rs17113675	0.88[ASN][1000 genomes]
rs17113679	0.88[ASN][1000 genomes]
rs17113748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17180010	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1824539	0.84[ASN][1000 genomes]
rs2061579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2365919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2605375	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2605381	0.90[ASN][1000 genomes]
rs2613902	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2641470	0.87[ASN][1000 genomes]
rs2641471	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34706013	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35454023	0.88[ASN][1000 genomes]
rs35957931	0.84[ASN][1000 genomes]
rs36030036	0.81[ASN][1000 genomes]
rs4547177	0.88[ASN][1000 genomes]
rs4882643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58783285	0.88[ASN][1000 genomes]
rs590352	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs60905363	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67506065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7132047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300059	0.84[ASN][1000 genomes]
rs7304361	0.84[ASN][1000 genomes]
rs7957387	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7962722	0.88[ASN][1000 genomes]
rs7964349	1.00[JPT][hapmap]
rs9668146	0.81[AFR][1000 genomes];0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7295970	ATXN7L3B	cis	Skin Sun Exposed Lower leg	GTEx
rs7295970	ATXN7L3B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:31 , 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	chr12:74935200-74941800	Weak transcription	Thymus	Thymus
4	chr12:74935200-74942200	Weak transcription	Psoas Muscle	Psoas
5	chr12:74935200-74942600	Weak transcription	Small Intestine	intestine
6	chr12:74935200-74943600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:74935200-74945000	Weak transcription	Left Ventricle	heart
8	chr12:74935400-74942600	Weak transcription	Fetal Intestine Small	intestine
9	chr12:74935600-74942000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:74935600-74942400	Weak transcription	NHDF-Ad	bronchial
11	chr12:74935600-74943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:74935800-74942800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:74936000-74942200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:74936000-74942400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:74936000-74942600	Weak transcription	Fetal Intestine Large	intestine
16	chr12:74936000-74945600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:74936200-74942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:74936200-74943600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:74936400-74942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:74936400-74945000	Weak transcription	Fetal Heart	heart
21	chr12:74936600-74942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:74936800-74942000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:74936800-74942600	Weak transcription	Liver	Liver
24	chr12:74936800-74943000	Weak transcription	Primary T cells from cord blood	blood
25	chr12:74936800-74943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:74937200-74942600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:74937600-74944400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:74937600-74944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:74937800-74942800	Weak transcription	HSMM	muscle
30	chr12:74938400-74941800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:74941400-74941600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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