Variant report

Variant	rs7252317
Chromosome Location	chr19:52890847-52890848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52875265..52876916-chr19:52889763..52892567,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56370398	0.81[AMR][1000 genomes]
rs7256723	0.81[AMR][1000 genomes]
rs7256752	0.81[AMR][1000 genomes]
rs7260092	0.91[AMR][1000 genomes]
rs73934439	0.81[AMR][1000 genomes]
rs73934440	0.81[AMR][1000 genomes]
rs8109180	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv3372061	chr19:52877189-52902218	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv521079	chr19:52886137-52917626	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv3511780	chr19:52887690-52892388	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv511613	chr19:52888071-52895166	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3511776	chr19:52888090-52892388	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3394429	chr19:52888140-52892538	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3511778	chr19:52888454-52893799	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv512590	chr19:52888580-52891406	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3318189	chr19:52888677-52891614	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3511779	chr19:52888688-52891541	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3511781	chr19:52888700-52891517	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3318188	chr19:52888708-52891501	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3318190	chr19:52888725-52891481	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3318191	chr19:52888737-52891467	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3511777	chr19:52888744-52891471	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv17108	chr19:52888750-52891129	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3318187	chr19:52888750-52891428	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv828613	chr19:52888767-52891260	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv828614	chr19:52888767-52891450	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv828615	chr19:52888767-52936555	ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	esv3318192	chr19:52888817-52891387	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv3511782	chr19:52888817-52891387	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv32843	chr19:52889022-52891109	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv580025	chr19:52890176-52895885	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52876200-52893400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:52876200-52893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:52876200-52894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52876200-52894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:52876200-52894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:52876200-52895000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:52876400-52891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:52877400-52893800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:52877800-52894200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:52880400-52893800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
11	chr19:52886000-52893400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:52888000-52897600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:52888600-52891200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:52888600-52891400	Weak transcription	Thymus	Thymus
15	chr19:52888600-52892800	Weak transcription	Right Ventricle	heart
16	chr19:52888600-52898600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:52888800-52891200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:52888800-52891800	Weak transcription	NH-A	brain
19	chr19:52888800-52894600	ZNF genes & repeats	Fetal Stomach	stomach
20	chr19:52889000-52891200	Weak transcription	Placenta	Placenta
21	chr19:52889000-52891400	Weak transcription	HSMMtube	muscle
22	chr19:52889000-52891600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:52889000-52891800	Weak transcription	Brain Substantia Nigra	brain
24	chr19:52889000-52891800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:52889000-52892600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:52889000-52892800	Weak transcription	HSMM	muscle
27	chr19:52889000-52897600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:52889000-52898200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:52889000-52898200	Weak transcription	Brain Anterior Caudate	brain
30	chr19:52889200-52900800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:52889400-52892600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:52889600-52891800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:52889600-52891800	Weak transcription	Fetal Kidney	kidney
34	chr19:52889800-52891400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:52889800-52891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:52889800-52891600	Weak transcription	Left Ventricle	heart
37	chr19:52889800-52892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:52889800-52892600	Weak transcription	Pancreas	Pancrea
39	chr19:52889800-52898600	Weak transcription	Fetal Heart	heart
40	chr19:52890000-52892000	Strong transcription	Ovary	ovary
41	chr19:52890600-52891600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:52890600-52891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:52890600-52891800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:52890600-52891800	Weak transcription	Dnd41	blood
45	chr19:52890600-52892000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:52890600-52892400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:52890600-52897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:52890600-52898600	Weak transcription	NHDF-Ad	bronchial
49	chr19:52890800-52891800	Weak transcription	Liver	Liver
50	chr19:52890800-52897600	Weak transcription	Brain Hippocampus Middle	brain

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