Variant report

Variant	rs7026114
Chromosome Location	chr9:116086302-116086303
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116084742..116086988-chr9:116101067..116102910,3	MCF-7	breast:
2	chr9:116079992..116082987-chr9:116085261..116087618,2	K562	blood:
3	chr9:116079992..116082987-chr9:116084415..116087618,3	K562	blood:

Variant related genes	Relation type
ENSG00000148225	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10817483	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10981729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981735	1.00[CEU][hapmap];1.00[CHB][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]
rs11787602	0.81[AFR][1000 genomes]
rs11788333	0.87[AFR][1000 genomes]
rs12378096	1.00[CEU][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12380548	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41276775	1.00[ASN][1000 genomes]
rs66747389	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66790147	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026831	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032611	1.00[ASN][1000 genomes]
rs7038589	1.00[CEU][hapmap];1.00[CHB][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]
rs7860315	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7870848	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs818710	1.00[CHB][hapmap]
rs912247	1.00[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7026114	PRPF4	cis	Thyroid	GTEx
rs7026114	SLC31A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116056000-116087000	Weak transcription	Thymus	Thymus
2	chr9:116065400-116086800	Weak transcription	Gastric	stomach
3	chr9:116073800-116101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr9:116077000-116086800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:116077400-116101400	Weak transcription	Brain Germinal Matrix	brain
6	chr9:116077400-116101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:116077800-116101200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:116078400-116086400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr9:116078800-116093600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:116079000-116094600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:116079800-116087600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:116080600-116086600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:116080800-116101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:116080800-116101600	Weak transcription	Fetal Brain Male	brain
15	chr9:116081000-116101600	Weak transcription	Pancreas	Pancrea
16	chr9:116081400-116098000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:116082200-116101600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:116082600-116101400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:116082800-116101400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:116082800-116101600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:116082800-116101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:116082800-116101600	Weak transcription	Brain Substantia Nigra	brain
23	chr9:116082800-116101600	Weak transcription	Fetal Kidney	kidney
24	chr9:116082800-116101600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:116082800-116102000	Weak transcription	Aorta	Aorta
26	chr9:116083000-116101400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr9:116083800-116087200	Weak transcription	Lung	lung
28	chr9:116083800-116090400	Weak transcription	Fetal Intestine Small	intestine
29	chr9:116083800-116093600	Weak transcription	Ovary	ovary
30	chr9:116083800-116094000	Weak transcription	Left Ventricle	heart
31	chr9:116083800-116101200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:116083800-116101200	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:116083800-116101400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:116083800-116101600	Weak transcription	Right Ventricle	heart
35	chr9:116084000-116093600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:116084000-116101400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:116084200-116087000	Weak transcription	Esophagus	oesophagus
38	chr9:116084200-116101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:116084200-116101400	Weak transcription	Liver	Liver
40	chr9:116084200-116101400	Weak transcription	Brain Anterior Caudate	brain
41	chr9:116084200-116101400	Weak transcription	Fetal Stomach	stomach
42	chr9:116084200-116101600	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:116085400-116092000	Weak transcription	HSMMtube	muscle
44	chr9:116085400-116101400	Weak transcription	Adipose Nuclei	Adipose
45	chr9:116085400-116101400	Weak transcription	Fetal Lung	lung
46	chr9:116085400-116101600	Weak transcription	Brain Angular Gyrus	brain
47	chr9:116085600-116101200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links