Variant report

Variant	rs12107730
Chromosome Location	chr3:150311601-150311602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150306459..150312213-chr3:150319876..150323400,9	MCF-7	breast:
2	chr3:150260245..150262283-chr3:150310789..150313742,2	K562	blood:
3	chr3:150297183..150299221-chr3:150310193..150312196,2	K562	blood:

Variant related genes	Relation type
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11548666	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11921309	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922033	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924919	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927998	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11929205	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214539	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214746	0.83[EUR][1000 genomes]
rs17440940	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1915945	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965473	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293150	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293151	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707430	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723846	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56208302	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217437	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885545	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60142519	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61019785	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61667461	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001317	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001332	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001341	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001347	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001362	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001363	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001365	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003042	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7430992	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650013	0.92[EUR][1000 genomes];1.00[ASN][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150294200-150314600	Weak transcription	Psoas Muscle	Psoas
4	chr3:150295600-150318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:150300800-150316200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
7	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:150303000-150316400	Weak transcription	HUVEC	blood vessel
9	chr3:150303400-150316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:150303600-150315600	Weak transcription	HMEC	breast
11	chr3:150303600-150317400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:150303600-150319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:150303800-150313800	Weak transcription	Pancreas	Pancrea
14	chr3:150303800-150315600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:150303800-150316200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:150303800-150316400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:150303800-150316400	Weak transcription	NH-A	brain
18	chr3:150303800-150316800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:150303800-150316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:150303800-150316800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:150303800-150317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:150303800-150317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:150303800-150318000	Weak transcription	NHLF	lung
24	chr3:150303800-150318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:150303800-150318800	Weak transcription	Fetal Lung	lung
26	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
28	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:150303800-150320800	Weak transcription	Lung	lung
30	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
31	chr3:150304000-150316600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:150304000-150316600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:150304000-150316800	Weak transcription	Brain Anterior Caudate	brain
34	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
37	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:150304400-150316400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:150304400-150317600	Weak transcription	HepG2	liver
40	chr3:150304400-150320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:150304400-150320200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr3:150304400-150320600	Weak transcription	Ovary	ovary
43	chr3:150304600-150315600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:150304600-150316400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:150304600-150318600	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:150304800-150315600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:150304800-150315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:150304800-150316200	Weak transcription	HSMM	muscle
49	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:150305000-150315200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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