Variant report

Variant	rs7704111
Chromosome Location	chr5:118607342-118607343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
2	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
3	chr5:118605019..118607417-chr5:118636347..118638717,3	MCF-7	breast:
4	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
5	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
6	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1004531	0.80[ASW][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.85[ASN][1000 genomes]
rs10900729	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12054902	0.89[EUR][1000 genomes];0.85[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	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7704111	PRR16	cis	parietal	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604400-118608000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118604600-118607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:118604800-118607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:118605000-118608000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:118605200-118607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:118605400-118608000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:118605400-118608400	Weak transcription	Esophagus	oesophagus
10	chr5:118605400-118609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:118605400-118609000	Enhancers	Fetal Heart	heart
12	chr5:118605400-118609200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:118605400-118609200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:118605400-118609400	Weak transcription	Colonic Mucosa	Colon
15	chr5:118605400-118609600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:118605400-118609800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:118605400-118609800	Weak transcription	NH-A	brain
18	chr5:118605400-118609800	Weak transcription	Osteobl	bone
19	chr5:118605400-118610000	Weak transcription	Liver	Liver
20	chr5:118605400-118610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:118605400-118610400	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:118605400-118611200	Weak transcription	Lung	lung
23	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:118605600-118607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:118605600-118608400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:118605600-118608400	Weak transcription	Right Ventricle	heart
27	chr5:118605600-118608600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:118605600-118608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:118605600-118608800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:118605600-118608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:118605600-118608800	Weak transcription	Fetal Intestine Small	intestine
32	chr5:118605600-118608800	Weak transcription	HMEC	breast
33	chr5:118605600-118609000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:118605600-118609200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:118605600-118609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:118605600-118609200	Weak transcription	Fetal Intestine Large	intestine
37	chr5:118605600-118609400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
40	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
41	chr5:118606000-118607800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:118606000-118607800	Weak transcription	NHDF-Ad	bronchial
43	chr5:118606000-118608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:118606000-118608800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:118606000-118608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:118606000-118609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:118606000-118609200	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:118606000-118609200	Weak transcription	HUVEC	blood vessel
49	chr5:118606000-118609800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:118606000-118610000	Weak transcription	NHLF	lung

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