Variant report

Variant	rs2722645
Chromosome Location	chr19:44896917-44896918
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	chr19:44895650..44897507-chr2:133068550..133071124,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10404357	1.00[EUR][1000 genomes]
rs10406704	1.00[EUR][1000 genomes]
rs10415104	1.00[EUR][1000 genomes]
rs10416624	1.00[EUR][1000 genomes]
rs13345528	1.00[EUR][1000 genomes]
rs2437021	1.00[EUR][1000 genomes]
rs2571156	1.00[AMR][1000 genomes]
rs2698807	1.00[AMR][1000 genomes]
rs2722649	1.00[EUR][1000 genomes]
rs61744740	1.00[EUR][1000 genomes]
rs73553212	1.00[EUR][1000 genomes]
rs73553217	1.00[EUR][1000 genomes]
rs73553253	1.00[EUR][1000 genomes]
rs73555119	1.00[EUR][1000 genomes]
rs73567972	1.00[EUR][1000 genomes]
rs73567974	1.00[EUR][1000 genomes]
rs73569942	1.00[EUR][1000 genomes]
rs8113493	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	5 gene(s)	inside rSNPs	diseases
5	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1062330	chr19:44863939-44938277	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv960889	chr19:44877441-44913480	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv960852	chr19:44890187-44921203	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3318557	chr19:44892181-44938875	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3318558	chr19:44892356-44938748	Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv15098	chr19:44892380-44913200	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv9734	chr19:44892761-44940023	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv2756827	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv2758764	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1065783	chr19:44894164-44930803	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1055278	chr19:44896386-44907795	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1063780	chr19:44896386-44930803	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1059267	chr19:44896386-44938277	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv1055870	chr19:44896386-44938779	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv2421963	chr19:44896398-44938791	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv442465	chr19:44896398-44938791	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1058295	chr19:44896888-44938779	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
2	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
3	chr19:44889600-44897600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:44889600-44899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:44889800-44897800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44889800-44904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:44890000-44897600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:44890200-44904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44890200-44904800	Weak transcription	HSMMtube	muscle
10	chr19:44890600-44898800	Weak transcription	Colonic Mucosa	Colon
11	chr19:44890600-44905000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:44890800-44899000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:44891400-44905200	Weak transcription	Gastric	stomach
14	chr19:44891800-44899800	Weak transcription	Pancreas	Pancrea
15	chr19:44892200-44905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44892400-44900400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:44892400-44901400	Weak transcription	A549	lung
18	chr19:44892400-44905000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:44892600-44899200	Weak transcription	Psoas Muscle	Psoas
20	chr19:44893200-44905000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:44893400-44897000	Strong transcription	Fetal Lung	lung
22	chr19:44893400-44899800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:44893600-44897400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr19:44893600-44905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:44893800-44897400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:44893800-44905200	Weak transcription	Thymus	Thymus
27	chr19:44894000-44897000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr19:44894000-44897000	Strong transcription	Left Ventricle	heart
29	chr19:44894000-44897400	Strong transcription	Brain Germinal Matrix	brain
30	chr19:44894200-44897000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:44894200-44898800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:44894400-44897000	Strong transcription	Brain Substantia Nigra	brain
33	chr19:44894600-44899000	Weak transcription	Brain Angular Gyrus	brain
34	chr19:44894600-44905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:44894800-44899400	Weak transcription	Fetal Kidney	kidney
36	chr19:44895000-44905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:44895200-44904800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:44895600-44897000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
39	chr19:44895800-44899400	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:44895800-44899800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:44896000-44897000	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr19:44896000-44897400	Weak transcription	Fetal Intestine Small	intestine
43	chr19:44896000-44905000	Weak transcription	Osteobl	bone
44	chr19:44896200-44897000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:44896200-44897200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr19:44896200-44899000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:44896400-44899000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:44896400-44899000	Weak transcription	Adipose Nuclei	Adipose
49	chr19:44896400-44899000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:44896400-44899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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