Variant report

Variant	rs73925144
Chromosome Location	chr2:30587278-30587279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30585635..30588631-chr2:30590079..30592633,2	K562	blood:
2	chr2:30581738..30584056-chr2:30585628..30587536,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4356698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55816765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55987207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57076287	1.00[AMR][1000 genomes]
rs57128291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58020576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58426874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59728852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60883034	1.00[AMR][1000 genomes]
rs60893697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61045659	1.00[AMR][1000 genomes]
rs73925136	1.00[AMR][1000 genomes]
rs73925138	1.00[AMR][1000 genomes]
rs73925142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925149	1.00[AMR][1000 genomes]
rs73925154	1.00[AMR][1000 genomes]
rs73925159	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:30582400-30589600	Enhancers	Fetal Heart	heart
3	chr2:30583200-30589400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:30583200-30591400	Weak transcription	Gastric	stomach
5	chr2:30585400-30591200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30585600-30588800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:30585600-30588800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:30585600-30589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:30585600-30589000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:30585600-30589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:30585600-30589000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:30585600-30589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:30585600-30589400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:30586000-30587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:30586000-30588400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:30586000-30588800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:30586000-30588800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:30586000-30589000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:30586000-30589000	Weak transcription	Placenta	Placenta
21	chr2:30586000-30589000	Weak transcription	Fetal Thymus	thymus
22	chr2:30586000-30589400	Weak transcription	Esophagus	oesophagus
23	chr2:30586200-30587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:30586200-30587400	Weak transcription	Pancreas	Pancrea
25	chr2:30586200-30587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:30586200-30587600	Weak transcription	Lung	lung
27	chr2:30586200-30588000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:30586200-30588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:30586200-30588400	Weak transcription	Left Ventricle	heart
30	chr2:30586200-30588400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:30586200-30588400	Weak transcription	Right Ventricle	heart
32	chr2:30586200-30588800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:30586200-30589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:30586200-30589000	Weak transcription	Spleen	Spleen
35	chr2:30586200-30589200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:30586200-30589400	Weak transcription	Right Atrium	heart
37	chr2:30586200-30591000	Weak transcription	Fetal Kidney	kidney
38	chr2:30586200-30594800	Weak transcription	Ovary	ovary
39	chr2:30586400-30587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:30586400-30587600	Weak transcription	Osteobl	bone
41	chr2:30586400-30589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:30586400-30589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:30586400-30589200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:30586400-30590600	Weak transcription	Fetal Lung	lung
45	chr2:30586400-30591000	Weak transcription	HSMM	muscle
46	chr2:30586400-30591400	Weak transcription	Aorta	Aorta
47	chr2:30586600-30587800	Weak transcription	Stomach Mucosa	stomach
48	chr2:30586600-30588000	Weak transcription	Primary T cells from cord blood	blood
49	chr2:30586600-30588800	Weak transcription	NH-A	brain
50	chr2:30586600-30589000	Weak transcription	NHLF	lung

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