Variant report

Variant	rs7713211
Chromosome Location	chr5:74965977-74965978
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74965127..74967340-chr5:75010605..75013451,3	K562	blood:
2	chr5:74952495..74954524-chr5:74962216..74966504,3	K562	blood:
3	chr5:74959210..74961845-chr5:74965195..74967227,2	K562	blood:
4	chr5:74786766..74788653-chr5:74965428..74967574,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10038319	0.89[ASN][1000 genomes]
rs10066858	0.89[ASN][1000 genomes]
rs10075465	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515214	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872760	0.89[ASN][1000 genomes]
rs1862219	0.89[ASN][1000 genomes]
rs1862220	0.89[ASN][1000 genomes]
rs2193989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193990	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2193991	0.89[ASN][1000 genomes]
rs2216572	0.88[ASN][1000 genomes]
rs2303647	0.89[ASN][1000 genomes]
rs3815894	0.89[ASN][1000 genomes]
rs3815895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42302	0.81[AFR][1000 genomes]
rs56676015	0.89[ASN][1000 genomes]
rs6892146	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893029	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888786	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888787	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
2	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:74960200-74968600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:74961000-74976800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:74961000-74987800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:74961200-74968000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:74962000-74979400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:74963000-74966000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
11	chr5:74963200-74976600	Weak transcription	HMEC	breast
12	chr5:74963400-74968600	Weak transcription	Fetal Lung	lung
13	chr5:74963400-74968600	Weak transcription	Ovary	ovary
14	chr5:74963800-74968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:74964000-74968200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:74964200-74966000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:74964400-74966000	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:74964400-74967400	Enhancers	Fetal Kidney	kidney
19	chr5:74964600-74966000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:74964600-74966000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:74964600-74970800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:74964800-74989400	Weak transcription	HSMMtube	muscle
23	chr5:74965000-74968400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:74965000-74968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:74965000-74968800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:74965000-74976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:74965000-74977000	Weak transcription	Brain Angular Gyrus	brain
28	chr5:74965000-74978600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:74965000-74979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:74965000-74983800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:74965000-74991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
33	chr5:74965200-74968200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:74965200-74968200	Weak transcription	Brain Substantia Nigra	brain
35	chr5:74965200-74968400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:74965200-74968400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:74965200-74977000	Weak transcription	NHLF	lung
38	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
39	chr5:74965400-74966000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:74965400-74966000	Enhancers	Fetal Intestine Large	intestine
41	chr5:74965400-74966000	Enhancers	Fetal Intestine Small	intestine
42	chr5:74965400-74966800	Enhancers	Primary hematopoietic stem cells	blood
43	chr5:74965400-74967800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:74965400-74968000	Weak transcription	Placenta	Placenta
45	chr5:74965400-74968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:74965400-74968200	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:74965400-74968200	Weak transcription	Left Ventricle	heart
48	chr5:74965400-74968400	Weak transcription	Adipose Nuclei	Adipose
49	chr5:74965400-74968400	Weak transcription	Fetal Stomach	stomach
50	chr5:74965400-74968400	Weak transcription	Fetal Thymus	thymus

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