Variant report

Variant	rs58383805
Chromosome Location	chr10:52189642-52189643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52187426..52191274-chr10:52192997..52195335,3	MCF-7	breast:
2	chr10:52189329..52191710-chr10:52192789..52194916,2	K562	blood:
3	chr10:52181748..52183434-chr10:52188510..52191185,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1028534	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12569801	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12569909	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12571095	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12573520	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16937491	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16937722	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16937771	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16937775	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16937786	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17179881	0.90[ASN][1000 genomes]
rs1880071	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2064760	0.87[ASN][1000 genomes]
rs2983346	0.84[ASN][1000 genomes]
rs2983349	0.87[ASN][1000 genomes]
rs3739990	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41427847	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57015168	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57748270	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57999700	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58642196	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59510112	0.81[ASN][1000 genomes]
rs59512026	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66546375	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67761241	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs910818	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv521273	chr10:52051645-52197847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52178400-52220000	Weak transcription	Pancreas	Pancrea
2	chr10:52178600-52217200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:52178600-52219400	Weak transcription	Left Ventricle	heart
4	chr10:52178800-52191200	Weak transcription	HSMMtube	muscle
5	chr10:52178800-52198000	Weak transcription	Fetal Thymus	thymus
6	chr10:52178800-52202800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:52179000-52191000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:52179000-52191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:52179000-52191400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:52179000-52191600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:52179000-52205800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:52179000-52207600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr10:52179000-52209000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:52179200-52196600	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:52180000-52189800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:52180000-52190800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:52180200-52201200	Weak transcription	Fetal Heart	heart
18	chr10:52180600-52194000	Weak transcription	Fetal Intestine Large	intestine
19	chr10:52181400-52191000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:52181600-52189800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:52181600-52190800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:52181600-52219400	Weak transcription	Placenta	Placenta
23	chr10:52181800-52206200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:52182000-52191200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:52182200-52191000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:52182200-52191400	Weak transcription	Psoas Muscle	Psoas
27	chr10:52182200-52220000	Weak transcription	Fetal Stomach	stomach
28	chr10:52182400-52189800	Weak transcription	Adipose Nuclei	Adipose
29	chr10:52182600-52191000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr10:52182600-52191000	Weak transcription	Fetal Lung	lung
31	chr10:52182600-52200600	Weak transcription	Fetal Brain Male	brain
32	chr10:52183000-52191200	Weak transcription	Brain Angular Gyrus	brain
33	chr10:52183400-52190000	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:52183400-52190600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:52183400-52191400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:52184000-52191200	Weak transcription	Liver	Liver
37	chr10:52184200-52189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:52184200-52191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:52184400-52191200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:52185600-52191600	Weak transcription	Primary B cells from cord blood	blood
41	chr10:52186600-52189800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr10:52186600-52189800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr10:52186600-52190600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:52186600-52190600	Weak transcription	GM12878-XiMat	blood
45	chr10:52186600-52191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:52188400-52191000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:52188600-52191600	Weak transcription	Primary T cells from cord blood	blood
48	chr10:52188600-52192200	Weak transcription	K562	blood
49	chr10:52189000-52190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:52189600-52190000	Enhancers	Brain Substantia Nigra	brain

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