Variant report

Variant	rs10247043
Chromosome Location	chr7:65619626-65619627
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	chr7:65617048..65619822-chr7:65625013..65626809,2	MCF-7	breast:
2	chr7:65446691..65448444-chr7:65618479..65620177,2	K562	blood:

Variant related genes	Relation type
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1167395	0.84[AMR][1000 genomes]
rs1167612	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1182882	0.81[AMR][1000 genomes]
rs11971949	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11974219	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11974264	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13225383	0.82[EUR][1000 genomes]
rs13240492	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2087647	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2420168	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2949696	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55962648	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6946143	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6957690	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6958484	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6961717	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs697969	0.81[AMR][1000 genomes]
rs7801282	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs780998	0.83[AMR][1000 genomes]
rs875971	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs10247043	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs10247043	RNU6-96P	cis	Thyroid	GTEx
rs10247043	GS1-124K5.4	cis	Artery Aorta	GTEx
rs10247043	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs10247043	RP4-756H11.3	cis	Artery Aorta	GTEx
rs10247043	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs10247043	RP4-756H11.3	cis	Artery Tibial	GTEx
rs10247043	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs10247043	RP4-756H11.3	cis	Thyroid	GTEx
rs10247043	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10247043	GS1-124K5.4	cis	Stomach	GTEx
rs10247043	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs10247043	GS1-124K5.4	cis	Whole Blood	GTEx
rs10247043	RP4-756H11.3	cis	lung	GTEx
rs10247043	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs10247043	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65595200-65622000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:65595600-65623200	Strong transcription	Dnd41	blood
3	chr7:65595600-65623800	Strong transcription	Primary T cells from cord blood	blood
4	chr7:65595800-65620000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:65599200-65623400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:65609000-65622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:65609200-65623200	Weak transcription	Fetal Brain Male	brain
8	chr7:65609200-65623400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:65609600-65624600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
11	chr7:65613600-65621600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:65614200-65620000	Strong transcription	GM12878-XiMat	blood
13	chr7:65615200-65622600	Strong transcription	Fetal Brain Female	brain
14	chr7:65615200-65623400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:65615200-65623800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:65615200-65623800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:65615400-65623600	Strong transcription	Primary B cells from cord blood	blood
18	chr7:65615400-65623600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:65615400-65623800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:65615600-65624000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:65615800-65621000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:65615800-65621800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:65615800-65621800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:65615800-65623800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:65615800-65624000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:65616000-65620000	Strong transcription	HSMM	muscle
27	chr7:65616000-65623200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:65616000-65623800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:65616200-65623400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:65616200-65623400	Strong transcription	Fetal Thymus	thymus
31	chr7:65616200-65624400	Weak transcription	Psoas Muscle	Psoas
32	chr7:65616400-65623600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:65617200-65623800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:65617400-65620000	Strong transcription	Brain Angular Gyrus	brain
35	chr7:65617600-65628800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:65617600-65632400	Weak transcription	Hela-S3	cervix
37	chr7:65617800-65621600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:65617800-65622600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:65617800-65623800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:65618000-65621800	Strong transcription	Fetal Intestine Large	intestine
41	chr7:65618000-65622200	Weak transcription	Stomach Mucosa	stomach
42	chr7:65618000-65623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:65618000-65623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:65618000-65623800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:65618000-65624600	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:65618200-65620000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:65618200-65621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:65618200-65621800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:65618200-65621800	Strong transcription	Fetal Intestine Small	intestine
50	chr7:65618200-65622200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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