Variant report

Variant	rs61958801
Chromosome Location	chr13:52592718-52592719
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52592255..52594860-chr13:52597501..52600884,3	K562	blood:
2	chr13:52585406..52587915-chr13:52591588..52593688,3	MCF-7	breast:
3	chr13:52584551..52590049-chr13:52591418..52597330,6	K562	blood:
4	chr13:52585156..52588231-chr13:52590491..52594410,3	MCF-7	breast:
5	chr13:52584551..52589100-chr13:52590922..52592918,4	K562	blood:

Variant related genes	Relation type
ENSG00000123191	Chromatin interaction
ENSG00000253710	Chromatin interaction
ENSG00000253797	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1122934	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4091568	1.00[ASN][1000 genomes]
rs4941729	1.00[ASN][1000 genomes]
rs55667430	0.87[ASN][1000 genomes]
rs55715265	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57345934	1.00[ASN][1000 genomes]
rs61957231	1.00[ASN][1000 genomes]
rs61957232	1.00[ASN][1000 genomes]
rs61957233	1.00[ASN][1000 genomes]
rs61957238	1.00[ASN][1000 genomes]
rs61957248	1.00[ASN][1000 genomes]
rs61957249	1.00[ASN][1000 genomes]
rs61957252	1.00[ASN][1000 genomes]
rs61957253	1.00[ASN][1000 genomes]
rs61957254	1.00[ASN][1000 genomes]
rs61957255	1.00[ASN][1000 genomes]
rs61957256	1.00[ASN][1000 genomes]
rs61957258	1.00[ASN][1000 genomes]
rs61957297	1.00[ASN][1000 genomes]
rs61958782	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958784	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958786	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958788	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958800	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958802	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958803	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958806	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958807	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958860	1.00[ASN][1000 genomes]
rs61958863	1.00[ASN][1000 genomes]
rs61958865	1.00[ASN][1000 genomes]
rs719349	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333070	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73502305	1.00[ASN][1000 genomes]
rs73502307	1.00[ASN][1000 genomes]
rs9526818	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526840	1.00[ASN][1000 genomes]
rs9535814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535818	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535831	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535838	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535850	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535852	1.00[ASN][1000 genomes]
rs9535859	1.00[ASN][1000 genomes]
rs9535869	1.00[ASN][1000 genomes]
rs9535870	1.00[ASN][1000 genomes]
rs9535875	1.00[ASN][1000 genomes]
rs9535881	1.00[ASN][1000 genomes]
rs9535886	1.00[ASN][1000 genomes]
rs9535890	1.00[ASN][1000 genomes]
rs9535892	1.00[ASN][1000 genomes]
rs9535893	1.00[ASN][1000 genomes]
rs9535894	1.00[ASN][1000 genomes]
rs9535897	1.00[ASN][1000 genomes]
rs9535900	1.00[ASN][1000 genomes]
rs9535901	1.00[ASN][1000 genomes]
rs9535902	1.00[ASN][1000 genomes]
rs9535903	1.00[ASN][1000 genomes]
rs9535906	1.00[ASN][1000 genomes]
rs9535909	1.00[ASN][1000 genomes]
rs9535910	1.00[ASN][1000 genomes]
rs9535911	1.00[ASN][1000 genomes]
rs9535913	1.00[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52587000-52593800	Weak transcription	Left Ventricle	heart
2	chr13:52587000-52593800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:52587000-52594800	Weak transcription	Lung	lung
4	chr13:52587000-52598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:52587000-52598800	Weak transcription	Small Intestine	intestine
6	chr13:52587000-52600000	Weak transcription	Esophagus	oesophagus
7	chr13:52587200-52594600	Weak transcription	Colonic Mucosa	Colon
8	chr13:52587200-52600000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:52587400-52593600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr13:52587400-52593600	Weak transcription	Ovary	ovary
11	chr13:52587400-52593800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr13:52587400-52594000	Weak transcription	Brain Germinal Matrix	brain
13	chr13:52587400-52594400	Weak transcription	Psoas Muscle	Psoas
14	chr13:52587400-52595600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:52587400-52598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:52587400-52598200	Weak transcription	Right Ventricle	heart
17	chr13:52587400-52598400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr13:52587400-52598800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:52587400-52600000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:52587600-52592800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:52587600-52593800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:52587600-52593800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:52587600-52598000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr13:52587600-52598000	Weak transcription	Fetal Kidney	kidney
25	chr13:52587600-52598400	Weak transcription	Brain Substantia Nigra	brain
26	chr13:52587600-52599400	Weak transcription	Stomach Mucosa	stomach
27	chr13:52587800-52593600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:52587800-52593600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:52587800-52593800	Weak transcription	Brain Angular Gyrus	brain
30	chr13:52587800-52593800	Weak transcription	NHLF	lung
31	chr13:52587800-52598200	Weak transcription	Fetal Heart	heart
32	chr13:52588000-52593600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr13:52588000-52593600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:52588000-52593600	Weak transcription	HMEC	breast
35	chr13:52588000-52593800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:52588000-52593800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:52588000-52593800	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:52588000-52593800	Weak transcription	K562	blood
39	chr13:52588000-52593800	Weak transcription	NHEK	skin
40	chr13:52588000-52594000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr13:52588000-52594000	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:52588000-52594000	Weak transcription	NH-A	brain
43	chr13:52588000-52594400	Weak transcription	Fetal Brain Male	brain
44	chr13:52588000-52594400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr13:52588000-52595400	Weak transcription	HUVEC	blood vessel
46	chr13:52588000-52597000	Weak transcription	HSMMtube	muscle
47	chr13:52588000-52598000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr13:52588000-52609200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr13:52588000-52617400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:52588200-52593600	Weak transcription	GM12878-XiMat	blood

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