Variant report

Variant	rs59870865
Chromosome Location	chr7:38224256-38224257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38216813..38219084-chr7:38221973..38224824,2	K562	blood:

Variant related genes	Relation type
ENSG00000010270	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1019179	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10255648	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10260257	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10260281	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10265931	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10480165	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10945	0.83[ASN][1000 genomes]
rs11765477	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773415	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671662	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1524061	0.81[ASN][1000 genomes]
rs17171306	0.87[ASN][1000 genomes]
rs1860523	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2079850	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2191313	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240823	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4720272	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4723736	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4723737	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73128691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9490	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9801416	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][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	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59870865	STARD3NL	cis	Thyroid	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218400-38225000	Weak transcription	Gastric	stomach
2	chr7:38218600-38226200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:38218600-38226600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
5	chr7:38218800-38227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:38219200-38225000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:38219200-38225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:38219200-38226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:38219200-38226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:38219400-38224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:38219600-38225000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:38219600-38225000	Weak transcription	Right Atrium	heart
15	chr7:38219600-38225600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:38219600-38226200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:38219800-38224600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:38219800-38225000	Weak transcription	Pancreas	Pancrea
20	chr7:38219800-38225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:38219800-38226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:38219800-38227800	Weak transcription	Lung	lung
23	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:38220200-38224800	Weak transcription	Stomach Mucosa	stomach
25	chr7:38220200-38225200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:38220200-38225600	Weak transcription	A549	lung
27	chr7:38220200-38226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:38220200-38226200	Weak transcription	NHEK	skin
29	chr7:38220200-38226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:38220200-38226600	Weak transcription	Aorta	Aorta
31	chr7:38220200-38227400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:38220200-38227800	Weak transcription	Brain Substantia Nigra	brain
33	chr7:38220200-38235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:38220200-38235400	Weak transcription	Thymus	Thymus
35	chr7:38220200-38236800	Weak transcription	Fetal Stomach	stomach
36	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
37	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:38220400-38224600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:38220400-38224600	Weak transcription	HSMM	muscle
40	chr7:38220400-38224600	Weak transcription	HSMMtube	muscle
41	chr7:38220400-38224600	Weak transcription	NH-A	brain
42	chr7:38220400-38224600	Weak transcription	Osteobl	bone
43	chr7:38220400-38224800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:38220400-38224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:38220400-38225200	Weak transcription	NHDF-Ad	bronchial
46	chr7:38220400-38226200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:38220400-38226200	Weak transcription	NHLF	lung
48	chr7:38220400-38226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:38220400-38226400	Weak transcription	HMEC	breast
50	chr7:38220400-38226600	Weak transcription	Brain Angular Gyrus	brain

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