Variant report

Variant	rs10052384
Chromosome Location	chr5:43383079-43383080
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43381240..43383719-chr5:43393017..43394767,2	K562	blood:
2	chr5:43311527..43313591-chr5:43382158..43385097,2	MCF-7	breast:
3	chr5:43065772..43068006-chr5:43383021..43385941,2	MCF-7	breast:
4	chr5:43382764..43385350-chr5:43482506..43485216,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10037409	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10038859	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10040897	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10043148	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10054415	0.86[EUR][1000 genomes]
rs10056437	1.00[EUR][1000 genomes]
rs10062031	1.00[EUR][1000 genomes]
rs10062121	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10062598	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10064967	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10067763	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10077324	0.86[EUR][1000 genomes]
rs10079530	0.86[EUR][1000 genomes]
rs10472379	0.86[EUR][1000 genomes]
rs10473306	0.86[EUR][1000 genomes]
rs10473308	1.00[EUR][1000 genomes]
rs11955467	0.86[EUR][1000 genomes]
rs1478436	0.86[EUR][1000 genomes]
rs16874093	0.86[EUR][1000 genomes]
rs16874094	0.83[AFR][1000 genomes]
rs28450849	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28608156	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28856961	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4326149	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs55645370	0.86[EUR][1000 genomes]
rs60520238	0.86[EUR][1000 genomes]
rs6865440	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6884349	0.86[EUR][1000 genomes]
rs6892413	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6893898	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7356654	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751075	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73751078	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751082	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751083	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7710717	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7715267	0.86[EUR][1000 genomes]
rs7729140	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7729145	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7733732	0.86[EUR][1000 genomes]
rs9292869	0.86[EUR][1000 genomes]
rs9292870	0.86[EUR][1000 genomes]
rs9292872	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9292875	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43367200-43386400	Weak transcription	Pancreas	Pancrea
2	chr5:43368600-43389800	Weak transcription	Stomach Mucosa	stomach
3	chr5:43368800-43396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:43369000-43387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:43369200-43386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:43370000-43396200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:43371800-43396800	Weak transcription	Small Intestine	intestine
8	chr5:43372200-43396800	Weak transcription	Gastric	stomach
9	chr5:43373200-43396400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:43374600-43396400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:43375000-43387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:43375000-43396800	Weak transcription	Spleen	Spleen
13	chr5:43375400-43387200	Weak transcription	Thymus	Thymus
14	chr5:43376200-43389800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:43376600-43384800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:43376600-43384800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr5:43376800-43386800	Weak transcription	HMEC	breast
18	chr5:43377000-43387000	Weak transcription	Lung	lung
19	chr5:43377200-43396800	Weak transcription	Colonic Mucosa	Colon
20	chr5:43378600-43396200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:43378800-43396400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:43379000-43384200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:43379000-43396400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:43379200-43395800	Weak transcription	Placenta	Placenta
25	chr5:43379400-43388600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:43379600-43384000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:43379600-43384400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:43379600-43384400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:43380400-43396400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:43380600-43387000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:43381800-43384400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:43381800-43387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:43382200-43386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:43382200-43386400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:43382200-43387000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:43382200-43396400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:43382400-43383400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:43382400-43384800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:43382600-43383600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:43382600-43387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:43382800-43385400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:43382800-43386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:43382800-43386600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:43383000-43386000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:43383000-43386400	Weak transcription	GM12878-XiMat	blood

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