Variant report

Variant	rs56275379
Chromosome Location	chr10:43933977-43933978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43889891..43893674-chr10:43930869..43934431,5	MCF-7	breast:
2	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
3	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
4	chr10:43761779..43764546-chr10:43932522..43934779,2	K562	blood:
5	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
6	chr10:43915062..43917461-chr10:43933933..43935575,2	MCF-7	breast:
7	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221400	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000230555	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1106215	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238575	1.00[ASN][1000 genomes]
rs17153601	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366781	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856400	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879311	1.00[ASN][1000 genomes]
rs2248807	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253260	1.00[ASN][1000 genomes]
rs2261637	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2264603	1.00[ASN][1000 genomes]
rs2265955	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812798	0.97[EUR][1000 genomes]
rs2819025	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999222	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999288	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2999290	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3006393	1.00[ASN][1000 genomes]
rs3006410	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3124211	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948727	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55765722	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037308	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087058	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234785	1.00[ASN][1000 genomes]
rs56237566	1.00[ASN][1000 genomes]
rs56252639	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072967	1.00[ASN][1000 genomes]
rs7073345	1.00[ASN][1000 genomes]
rs7084621	1.00[ASN][1000 genomes]
rs7085670	1.00[ASN][1000 genomes]
rs72785234	1.00[ASN][1000 genomes]
rs72785236	1.00[ASN][1000 genomes]
rs72785237	1.00[ASN][1000 genomes]
rs72785243	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785246	1.00[ASN][1000 genomes]
rs72785248	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785255	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785256	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785266	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916718	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422365	0.97[AMR][1000 genomes];1.00[EUR][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	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43933000-43940200	Weak transcription	Pancreas	Pancrea
2	chr10:43933000-43947200	Weak transcription	Spleen	Spleen
3	chr10:43933000-43949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:43933000-43950200	Weak transcription	Lung	lung
5	chr10:43933200-43934000	Weak transcription	Fetal Lung	lung
6	chr10:43933200-43934200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:43933200-43934200	Enhancers	Colon Smooth Muscle	Colon
8	chr10:43933200-43934400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr10:43933200-43935000	Weak transcription	GM12878-XiMat	blood
10	chr10:43933200-43935600	Weak transcription	Fetal Stomach	stomach
11	chr10:43933200-43936000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:43933200-43936800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr10:43933200-43936800	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:43933200-43937600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:43933200-43938600	Weak transcription	Fetal Intestine Small	intestine
16	chr10:43933200-43939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:43933200-43940600	Weak transcription	Primary T cells from cord blood	blood
18	chr10:43933200-43947600	Weak transcription	Brain Anterior Caudate	brain
19	chr10:43933200-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:43933200-43950000	Weak transcription	Brain Substantia Nigra	brain
21	chr10:43933200-43950200	Weak transcription	Brain Angular Gyrus	brain
22	chr10:43933200-43950200	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:43933200-43950200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:43933200-43950200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:43933400-43934000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:43933400-43934000	Weak transcription	Colonic Mucosa	Colon
27	chr10:43933400-43934200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:43933400-43936600	Enhancers	Primary B cells from cord blood	blood
29	chr10:43933400-43939800	Weak transcription	Fetal Intestine Large	intestine
30	chr10:43933400-43940600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:43933400-43948000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:43933600-43934000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:43933600-43934200	Enhancers	Dnd41	blood
34	chr10:43933600-43935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:43933600-43935800	Weak transcription	HepG2	liver
36	chr10:43933600-43936400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr10:43933600-43937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:43933600-43940000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:43933600-43947200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:43933600-43947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:43933600-43948200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:43933600-43948200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:43933600-43949800	Weak transcription	Adipose Nuclei	Adipose
44	chr10:43933800-43934400	Enhancers	Thymus	Thymus
45	chr10:43933800-43936800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr10:43933800-43939400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:43933800-43946600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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