Variant report

Variant	rs56808429
Chromosome Location	chr10:52363935-52363936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52361423..52364078-chr10:52378639..52381362,2	K562	blood:
2	chr10:52356810..52366659-chr10:52378806..52385975,25	MCF-7	breast:
3	chr10:52363840..52365627-chr10:52371839..52373893,2	K562	blood:
4	chr10:52358660..52367648-chr10:52378481..52386533,25	MCF-7	breast:
5	chr10:52342671..52345197-chr10:52362617..52364673,2	MCF-7	breast:
6	chr10:52342059..52344112-chr10:52362150..52364434,3	K562	blood:
7	chr10:52362637..52365036-chr10:52365893..52368621,2	K562	blood:
8	chr10:52361922..52364870-chr10:52374462..52376104,2	MCF-7	breast:
9	chr10:52361957..52364109-chr10:52372914..52375707,2	K562	blood:
10	chr10:52352956..52355914-chr10:52362254..52364953,3	K562	blood:
11	chr10:52352876..52355415-chr10:52360770..52364645,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000230036	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10218880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10218927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12241613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261465	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262564	1.00[EUR][1000 genomes]
rs16937874	1.00[EUR][1000 genomes]
rs58158894	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58493447	1.00[EUR][1000 genomes]
rs61595381	1.00[EUR][1000 genomes]
rs66936815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67025766	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67114363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67414877	1.00[EUR][1000 genomes]
rs72803714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911643	1.00[EUR][1000 genomes];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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
2	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:52349600-52364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:52349600-52364800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:52358400-52367000	Enhancers	Fetal Lung	lung
6	chr10:52358800-52367800	Enhancers	Brain Hippocampus Middle	brain
7	chr10:52359400-52369200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:52360000-52366200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr10:52360200-52375600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:52360400-52366000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:52360600-52364000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:52361000-52364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:52361200-52364800	Enhancers	Liver	Liver
14	chr10:52361400-52364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:52361600-52364400	Enhancers	Pancreas	Pancrea
16	chr10:52361600-52369000	Enhancers	Brain Anterior Caudate	brain
17	chr10:52362000-52364400	Enhancers	Left Ventricle	heart
18	chr10:52362000-52365400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:52362000-52365400	Enhancers	Ovary	ovary
20	chr10:52362000-52368400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr10:52362000-52368400	Enhancers	Brain Substantia Nigra	brain
22	chr10:52362200-52364000	Enhancers	HSMMtube	muscle
23	chr10:52362200-52364600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:52362200-52367400	Enhancers	Brain Cingulate Gyrus	brain
25	chr10:52362200-52372400	Weak transcription	Esophagus	oesophagus
26	chr10:52362400-52367200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:52362600-52364200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:52362600-52364800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr10:52362600-52364800	Enhancers	HSMM	muscle
30	chr10:52362600-52365800	Enhancers	Fetal Intestine Small	intestine
31	chr10:52362600-52366800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr10:52362600-52368800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:52362800-52364000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:52362800-52364000	Weak transcription	Right Ventricle	heart
35	chr10:52362800-52364000	Enhancers	GM12878-XiMat	blood
36	chr10:52362800-52364600	Enhancers	HMEC	breast
37	chr10:52362800-52364800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:52362800-52365000	Flanking Active TSS	Fetal Heart	heart
39	chr10:52362800-52365200	Enhancers	Brain Germinal Matrix	brain
40	chr10:52362800-52365400	Enhancers	Fetal Brain Male	brain
41	chr10:52362800-52365800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:52362800-52366000	Enhancers	Fetal Intestine Large	intestine
43	chr10:52362800-52366200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr10:52362800-52366200	Enhancers	Brain Angular Gyrus	brain
45	chr10:52362800-52366400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:52362800-52368000	Enhancers	HepG2	liver
47	chr10:52363000-52364200	Flanking Active TSS	K562	blood
48	chr10:52363000-52364400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:52363000-52364400	Enhancers	Right Atrium	heart
50	chr10:52363000-52364600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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