Variant report

Variant	rs71358880
Chromosome Location	chr19:53032502-53032503
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	chr19:53031656..53034156-chr19:53037494..53039065,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs35687753	0.87[EUR][1000 genomes]
rs55680236	0.96[AFR][1000 genomes]
rs55930753	0.85[AFR][1000 genomes]
rs57498384	0.85[AFR][1000 genomes]
rs57798377	0.96[AFR][1000 genomes]
rs71358882	0.81[EUR][1000 genomes]
rs73934553	1.00[AFR][1000 genomes]
rs73934554	0.96[AFR][1000 genomes]
rs73934561	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3404701	chr19:52986895-53035152	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3440535	chr19:52993529-53035203	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1066717	chr19:52993620-53041995	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1064342	chr19:52996710-53041119	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1055825	chr19:53001299-53037378	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1055859	chr19:53001299-53041119	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic 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	4 gene(s)	inside rSNPs	diseases
13	nsv1060656	chr19:53001299-53041995	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53030000-53032600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:53030200-53032600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:53030400-53032600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:53030600-53032600	Active TSS	GM12878-XiMat	blood
5	chr19:53031400-53032600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr19:53031400-53032600	Flanking Active TSS	Dnd41	blood
7	chr19:53031600-53032600	Enhancers	Spleen	Spleen
8	chr19:53031600-53033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:53031800-53032600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:53031800-53032600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:53031800-53032600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:53031800-53032600	Enhancers	Placenta	Placenta
13	chr19:53031800-53032600	Enhancers	Lung	lung
14	chr19:53031800-53032600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr19:53031800-53032800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:53031800-53032800	Enhancers	Thymus	Thymus
17	chr19:53031800-53038600	Weak transcription	Aorta	Aorta
18	chr19:53031800-53038800	Weak transcription	Ovary	ovary
19	chr19:53032000-53032600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:53032000-53032600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:53032000-53032600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr19:53032000-53032600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:53032000-53032600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:53032000-53032600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:53032000-53032600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:53032000-53032600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:53032000-53032600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:53032000-53032600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:53032000-53032600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:53032000-53032600	Enhancers	Adipose Nuclei	Adipose
31	chr19:53032000-53032600	Enhancers	Brain Anterior Caudate	brain
32	chr19:53032000-53032600	Active TSS	Brain Substantia Nigra	brain
33	chr19:53032000-53032600	Enhancers	Esophagus	oesophagus
34	chr19:53032000-53032600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr19:53032000-53032600	Enhancers	Fetal Muscle Leg	muscle
36	chr19:53032000-53032600	Enhancers	Fetal Stomach	stomach
37	chr19:53032000-53032600	Enhancers	Fetal Thymus	thymus
38	chr19:53032000-53032600	Enhancers	Gastric	stomach
39	chr19:53032000-53032600	Enhancers	Left Ventricle	heart
40	chr19:53032000-53032600	Enhancers	Pancreas	Pancrea
41	chr19:53032000-53032600	Enhancers	Psoas Muscle	Psoas
42	chr19:53032000-53032600	Enhancers	Right Ventricle	heart
43	chr19:53032000-53033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:53032000-53036000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:53032000-53037000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:53032000-53037200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:53032000-53038000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:53032000-53038200	Weak transcription	Fetal Lung	lung
49	chr19:53032000-53038400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:53032000-53038400	Weak transcription	Brain Inferior Temporal Lobe	brain

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