Variant report

Variant	rs757317
Chromosome Location	chr19:18819984-18819985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18805952..18808937-chr19:18819749..18821987,2	MCF-7	breast:
2	chr19:18818727..18820395-chr19:18861333..18863526,2	MCF-7	breast:
3	chr19:18818633..18820154-chr19:18823817..18825970,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10423674	0.81[ASN][1000 genomes]
rs11085240	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11085241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668545	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668587	0.81[ASN][1000 genomes]
rs11880800	0.92[EUR][1000 genomes]
rs12460629	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12462498	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003475	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2023878	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240012	0.83[EUR][1000 genomes]
rs34482977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60021783	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8113096	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 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	chr19:18797200-18822400	Weak transcription	HepG2	liver
2	chr19:18812000-18844200	Weak transcription	Fetal Kidney	kidney
3	chr19:18812200-18823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:18812400-18820000	Weak transcription	Right Ventricle	heart
5	chr19:18812400-18820400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:18812400-18821000	Weak transcription	Fetal Lung	lung
7	chr19:18812400-18821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:18812400-18821800	Weak transcription	Fetal Intestine Small	intestine
9	chr19:18812400-18824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:18812400-18824000	Weak transcription	Fetal Brain Female	brain
11	chr19:18812400-18827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:18812400-18827800	Weak transcription	Brain Germinal Matrix	brain
13	chr19:18812600-18820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:18812600-18821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:18812600-18825800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:18812600-18828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:18813400-18820800	Weak transcription	Primary B cells from cord blood	blood
18	chr19:18818000-18836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:18818600-18822400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr19:18818800-18821200	Enhancers	Lung	lung
21	chr19:18818800-18821200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:18818800-18821400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr19:18818800-18821800	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:18818800-18823600	Enhancers	Fetal Muscle Trunk	muscle
25	chr19:18819000-18820200	Enhancers	Brain Hippocampus Middle	brain
26	chr19:18819000-18824000	Enhancers	Fetal Muscle Leg	muscle
27	chr19:18819000-18844000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:18819200-18820000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:18819200-18821200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:18819400-18820000	Enhancers	Placenta	Placenta
31	chr19:18819400-18820000	Weak transcription	Fetal Stomach	stomach
32	chr19:18819400-18820400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:18819400-18820600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr19:18819400-18821400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:18819400-18821400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:18819600-18820000	Enhancers	Thymus	Thymus
37	chr19:18819600-18820200	Enhancers	Brain Anterior Caudate	brain
38	chr19:18819600-18820400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr19:18819600-18820400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr19:18819600-18820400	Enhancers	Stomach Smooth Muscle	stomach
41	chr19:18819600-18821200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr19:18819600-18821200	Enhancers	Colonic Mucosa	Colon
43	chr19:18819600-18821400	Enhancers	Primary B cells from peripheral blood	blood
44	chr19:18819600-18821400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:18819600-18824400	Weak transcription	Aorta	Aorta
46	chr19:18819800-18820000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:18819800-18820200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:18819800-18820400	Enhancers	Brain Angular Gyrus	brain
49	chr19:18819800-18820400	Weak transcription	Esophagus	oesophagus
50	chr19:18819800-18820400	Enhancers	Fetal Thymus	thymus

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