Variant report

Variant	rs56403030
Chromosome Location	chr10:52298434-52298435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52289138..52291213-chr10:52296905..52299166,2	K562	blood:
2	chr10:52297940..52300313-chr10:52383188..52385616,2	K562	blood:

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10490964	0.90[AMR][1000 genomes]
rs10763585	0.84[ASN][1000 genomes]
rs10826234	0.82[ASN][1000 genomes]
rs11005959	0.80[AMR][1000 genomes]
rs11006102	1.00[ASN][1000 genomes]
rs11006119	1.00[ASN][1000 genomes]
rs11006155	0.86[ASN][1000 genomes]
rs12257419	0.81[AMR][1000 genomes]
rs12358162	1.00[ASN][1000 genomes]
rs17438825	0.87[AMR][1000 genomes]
rs17440448	0.85[AMR][1000 genomes]
rs17518471	0.92[AMR][1000 genomes]
rs17519121	0.85[AMR][1000 genomes]
rs17519380	0.85[AMR][1000 genomes]
rs1884571	1.00[ASN][1000 genomes]
rs1916569	0.87[AMR][1000 genomes]
rs1916571	0.87[AMR][1000 genomes]
rs2064759	0.85[AMR][1000 genomes]
rs2208036	0.86[ASN][1000 genomes]
rs2860472	0.87[ASN][1000 genomes]
rs2983360	0.94[ASN][1000 genomes]
rs2983364	0.86[ASN][1000 genomes]
rs3011707	0.91[ASN][1000 genomes]
rs3011802	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34928652	0.85[AMR][1000 genomes]
rs3802537	0.86[AMR][1000 genomes]
rs4935703	0.81[AMR][1000 genomes]
rs4935729	0.82[AMR][1000 genomes]
rs4935731	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669848	1.00[ASN][1000 genomes]
rs55735989	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56078228	0.81[AMR][1000 genomes]
rs56133398	0.86[AMR][1000 genomes]
rs56277433	0.83[AMR][1000 genomes]
rs61741330	0.87[AMR][1000 genomes]
rs61856788	0.85[AMR][1000 genomes]
rs61856793	0.85[AMR][1000 genomes]
rs61856794	0.89[AMR][1000 genomes]
rs61856795	0.89[AMR][1000 genomes]
rs61856828	0.87[AMR][1000 genomes]
rs61856832	0.89[AMR][1000 genomes]
rs61858062	0.85[AMR][1000 genomes]
rs61858064	0.85[AMR][1000 genomes]
rs61858065	0.84[AMR][1000 genomes]
rs61858068	0.81[AMR][1000 genomes]
rs61858069	0.92[AMR][1000 genomes]
rs61858108	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6481433	0.84[ASN][1000 genomes]
rs7068430	0.84[AMR][1000 genomes]
rs7074405	0.87[ASN][1000 genomes]
rs7088807	0.83[ASN][1000 genomes]
rs72801768	0.89[AMR][1000 genomes]
rs72801775	0.86[AMR][1000 genomes]
rs72801776	0.87[AMR][1000 genomes]
rs72801781	0.89[AMR][1000 genomes]
rs7898315	0.86[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52271600-52300600	Weak transcription	Aorta	Aorta
2	chr10:52272600-52302800	Weak transcription	Fetal Stomach	stomach
3	chr10:52273600-52299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:52279600-52298800	Weak transcription	Lung	lung
5	chr10:52279800-52298600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:52282800-52301200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:52283000-52300400	Weak transcription	Psoas Muscle	Psoas
9	chr10:52286400-52304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:52287800-52302800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:52288200-52298600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:52288600-52300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:52289400-52300000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:52291600-52298600	Weak transcription	Pancreas	Pancrea
15	chr10:52291800-52298600	Weak transcription	Gastric	stomach
16	chr10:52293600-52298600	Enhancers	K562	blood
17	chr10:52294600-52298600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:52295200-52298600	Weak transcription	NHEK	skin
19	chr10:52295800-52298600	Enhancers	Brain Hippocampus Middle	brain
20	chr10:52296600-52298600	Enhancers	Brain Substantia Nigra	brain
21	chr10:52296600-52298800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr10:52296600-52300600	Enhancers	Brain Anterior Caudate	brain
23	chr10:52296800-52302800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:52296800-52306000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr10:52297000-52300400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:52297000-52300400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:52297000-52302800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:52297000-52304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr10:52297000-52304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:52297200-52298600	Weak transcription	NHDF-Ad	bronchial
31	chr10:52297200-52301400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:52297400-52299400	Enhancers	Placenta	Placenta
33	chr10:52297400-52306000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr10:52297600-52299200	Enhancers	Stomach Mucosa	stomach
35	chr10:52297800-52298600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:52297800-52298600	Weak transcription	Spleen	Spleen
37	chr10:52297800-52302800	Weak transcription	Thymus	Thymus
38	chr10:52298200-52298600	Enhancers	GM12878-XiMat	blood
39	chr10:52298200-52298600	Enhancers	HepG2	liver
40	chr10:52298200-52299000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:52298200-52299000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:52298200-52299000	Enhancers	Fetal Intestine Large	intestine
43	chr10:52298200-52299000	Enhancers	Left Ventricle	heart
44	chr10:52298200-52299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr10:52298200-52299200	Enhancers	Fetal Intestine Small	intestine
46	chr10:52298200-52299800	Enhancers	Brain Angular Gyrus	brain
47	chr10:52298200-52301600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr10:52298200-52301800	Enhancers	Fetal Heart	heart
49	chr10:52298200-52302200	Enhancers	Brain Cingulate Gyrus	brain
50	chr10:52298400-52298600	Enhancers	Duodenum Mucosa	Duodenum

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