Variant report

Variant	rs7321310
Chromosome Location	chr13:52584872-52584873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52584477..52586900-chr13:52700506..52703372,3	K562	blood:
2	chr13:52025774..52028487-chr13:52584807..52587141,2	K562	blood:
3	chr13:52584551..52590049-chr13:52591418..52597330,6	K562	blood:
4	chr13:52584543..52591722-chr13:52593134..52598355,11	K562	blood:
5	chr13:52584477..52586943-chr13:52701489..52703372,3	K562	blood:

Variant related genes	Relation type
ENSG00000253710	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000197168	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1004576	0.88[ASN][1000 genomes]
rs1055062	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1060631	0.97[ASN][1000 genomes]
rs1134727	0.87[ASN][1000 genomes]
rs12146904	0.88[ASN][1000 genomes]
rs12431310	0.88[ASN][1000 genomes]
rs12560598	0.87[ASN][1000 genomes]
rs1571189	0.81[ASN][1000 genomes]
rs1886538	0.91[ASN][1000 genomes]
rs1886539	0.85[ASN][1000 genomes]
rs1886543	0.88[ASN][1000 genomes]
rs1886544	0.88[ASN][1000 genomes]
rs1886545	0.88[ASN][1000 genomes]
rs1886546	0.88[ASN][1000 genomes]
rs2005182	0.89[ASN][1000 genomes]
rs2147359	0.90[ASN][1000 genomes]
rs2147360	0.90[ASN][1000 genomes]
rs2147361	0.87[ASN][1000 genomes]
rs2277448	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296347	0.85[ASN][1000 genomes]
rs2408546	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2408547	0.92[ASN][1000 genomes]
rs2408548	0.92[ASN][1000 genomes]
rs2408552	0.86[ASN][1000 genomes]
rs2408554	0.88[ASN][1000 genomes]
rs2897964	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2897965	0.84[ASN][1000 genomes]
rs3742289	0.97[ASN][1000 genomes]
rs3742291	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3783242	0.87[ASN][1000 genomes]
rs3818422	0.87[ASN][1000 genomes]
rs4261421	0.91[ASN][1000 genomes]
rs4264295	0.92[ASN][1000 genomes]
rs4600369	0.90[ASN][1000 genomes]
rs4941720	0.90[ASN][1000 genomes]
rs4941723	0.88[ASN][1000 genomes]
rs4941727	0.82[ASN][1000 genomes]
rs4943060	0.84[ASN][1000 genomes]
rs61958804	0.95[ASN][1000 genomes]
rs61958805	0.85[ASN][1000 genomes]
rs6561656	1.00[ASN][1000 genomes]
rs6650384	0.92[ASN][1000 genomes]
rs6650385	0.92[ASN][1000 genomes]
rs66849828	0.82[ASN][1000 genomes]
rs7318287	0.92[ASN][1000 genomes]
rs7319784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320252	0.92[ASN][1000 genomes]
rs7320429	0.92[ASN][1000 genomes]
rs732071	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7320831	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7321120	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321435	0.91[ASN][1000 genomes]
rs7321775	0.90[ASN][1000 genomes]
rs7324458	0.88[ASN][1000 genomes]
rs7332272	0.85[ASN][1000 genomes]
rs7332356	0.88[ASN][1000 genomes]
rs7338131	0.92[ASN][1000 genomes]
rs7998770	0.88[ASN][1000 genomes]
rs9526817	0.90[ASN][1000 genomes]
rs9526823	0.97[ASN][1000 genomes]
rs9526825	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9526826	0.92[ASN][1000 genomes]
rs9526834	0.91[ASN][1000 genomes]
rs9526835	0.84[ASN][1000 genomes]
rs9526836	0.88[ASN][1000 genomes]
rs9526841	0.85[ASN][1000 genomes]
rs9526843	0.85[ASN][1000 genomes]
rs9535813	0.90[ASN][1000 genomes]
rs9535816	0.91[ASN][1000 genomes]
rs9535821	0.89[ASN][1000 genomes]
rs9535824	0.91[ASN][1000 genomes]
rs9535825	0.86[ASN][1000 genomes]
rs9535845	0.92[ASN][1000 genomes]
rs9535853	0.88[ASN][1000 genomes]
rs9535861	0.80[ASN][1000 genomes]
rs9535867	0.86[ASN][1000 genomes]
rs9535871	0.83[ASN][1000 genomes]
rs9535873	0.88[ASN][1000 genomes]
rs9535889	0.81[ASN][1000 genomes]
rs9568682	0.91[ASN][1000 genomes]
rs9568684	0.91[ASN][1000 genomes]
rs9568692	0.92[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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52570800-52585000	Weak transcription	Colonic Mucosa	Colon
2	chr13:52570800-52585200	Weak transcription	Aorta	Aorta
3	chr13:52574200-52585000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:52574400-52585000	Weak transcription	Left Ventricle	heart
5	chr13:52574400-52585200	Weak transcription	Lung	lung
6	chr13:52578400-52585200	Weak transcription	Pancreas	Pancrea
7	chr13:52579200-52585000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr13:52579200-52585000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:52579200-52585200	Weak transcription	Gastric	stomach
10	chr13:52579400-52585000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:52580800-52585000	Weak transcription	Placenta	Placenta
12	chr13:52581000-52585200	Weak transcription	Spleen	Spleen
13	chr13:52581200-52585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:52583600-52587400	Active TSS	Fetal Intestine Small	intestine
15	chr13:52583800-52585000	Enhancers	Brain Germinal Matrix	brain
16	chr13:52584000-52585000	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr13:52584200-52585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:52584200-52585000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:52584200-52585000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:52584200-52585000	Enhancers	Colon Smooth Muscle	Colon
21	chr13:52584200-52585000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr13:52584200-52585200	Active TSS	Duodenum Mucosa	Duodenum
23	chr13:52584200-52585200	Weak transcription	Stomach Mucosa	stomach
24	chr13:52584200-52585600	Flanking Active TSS	Liver	Liver
25	chr13:52584200-52585800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr13:52584400-52585000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:52584400-52585000	Active TSS	Fetal Stomach	stomach
28	chr13:52584400-52585200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:52584400-52585200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr13:52584400-52585400	Active TSS	HepG2	liver
31	chr13:52584400-52585600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:52584400-52587200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr13:52584400-52587400	Active TSS	Brain Anterior Caudate	brain
34	chr13:52584400-52587400	Active TSS	Right Ventricle	heart
35	chr13:52584400-52587600	Active TSS	Right Atrium	heart
36	chr13:52584400-52587800	Active TSS	Brain Angular Gyrus	brain
37	chr13:52584600-52585000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr13:52584600-52585000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:52584600-52585000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:52584600-52585000	Enhancers	Adipose Nuclei	Adipose
41	chr13:52584600-52585000	Flanking Active TSS	Fetal Kidney	kidney
42	chr13:52584600-52585000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:52584600-52585000	Weak transcription	Psoas Muscle	Psoas
44	chr13:52584600-52585000	Enhancers	Rectal Smooth Muscle	rectum
45	chr13:52584600-52585000	Enhancers	HMEC	breast
46	chr13:52584600-52585200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr13:52584600-52585200	Flanking Active TSS	Fetal Heart	heart
48	chr13:52584600-52585400	Flanking Active TSS	Fetal Lung	lung
49	chr13:52584600-52585600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr13:52584600-52587400	Active TSS	Stomach Smooth Muscle	stomach

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