Variant report

Variant	rs73599281
Chromosome Location	chr19:36151961-36151962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36150261-36152652	K562	blood:	n/a	n/a
2	FOXA1	chr19:36151908-36152746	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:36151116-36152536	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:36151716-36151981	K562	blood:	n/a	n/a
5	FOXA2	chr19:36151942-36152644	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36137102..36140091-chr19:36148183..36153903,5	MCF-7	breast:

Variant related genes	Relation type
RN7SL765P	TF binding region
ENSG00000126267	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11546662	0.81[EUR][1000 genomes]
rs11546665	0.81[EUR][1000 genomes]
rs12459935	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2227278	0.84[EUR][1000 genomes]
rs2234360	0.84[EUR][1000 genomes]
rs2234375	0.81[EUR][1000 genomes]
rs2267585	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267586	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2285420	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2311873	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2871893	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2871894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34562867	0.81[EUR][1000 genomes]
rs3817622	0.82[EUR][1000 genomes]
rs3893069	0.82[EUR][1000 genomes]
rs41361648	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4580318	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4992668	0.82[EUR][1000 genomes]
rs56849855	0.83[EUR][1000 genomes]
rs57180990	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58255615	0.82[EUR][1000 genomes]
rs58496446	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58952294	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60264154	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61220012	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61254015	0.85[AMR][1000 genomes]
rs61375471	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73590543	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73590544	0.80[AMR][1000 genomes]
rs73590559	0.83[EUR][1000 genomes]
rs73590564	0.81[EUR][1000 genomes]
rs73590568	0.84[EUR][1000 genomes]
rs73590576	0.81[EUR][1000 genomes]
rs73590585	0.81[EUR][1000 genomes]
rs73590591	0.81[EUR][1000 genomes]
rs73590598	0.82[EUR][1000 genomes]
rs73592416	0.82[EUR][1000 genomes]
rs73592448	0.81[EUR][1000 genomes]
rs73592461	0.81[EUR][1000 genomes]
rs73599271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73599272	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73599274	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73599279	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73599286	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73599289	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73600880	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73600881	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73600885	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73600892	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73600893	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73600899	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73602803	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73602804	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73602806	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73602823	0.83[EUR][1000 genomes]
rs73602827	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73602832	0.83[EUR][1000 genomes]
rs73602833	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140000-36154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36140200-36152800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
4	chr19:36140600-36153800	Strong transcription	Fetal Intestine Small	intestine
5	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
6	chr19:36140800-36153800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:36141000-36155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
10	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:36141600-36152600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:36141800-36152800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:36141800-36153000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr19:36141800-36154000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
16	chr19:36142000-36152200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
19	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
20	chr19:36142400-36152800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:36142800-36152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:36143000-36153800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:36143600-36156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr19:36144600-36152200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:36144600-36152600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:36144600-36152800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:36144600-36153800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:36144600-36155000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:36144600-36155400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:36144600-36156400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:36144600-36156600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:36144600-36156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:36144600-36156800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr19:36144600-36157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:36144600-36157600	Strong transcription	Thymus	Thymus
38	chr19:36144800-36152600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr19:36144800-36152600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr19:36144800-36152600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:36144800-36153600	Strong transcription	Brain Angular Gyrus	brain
42	chr19:36144800-36156600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr19:36144800-36156600	Strong transcription	Gastric	stomach
44	chr19:36144800-36156800	Strong transcription	Brain Anterior Caudate	brain
45	chr19:36144800-36157000	Strong transcription	Fetal Muscle Leg	muscle
46	chr19:36145200-36152600	Strong transcription	Esophagus	oesophagus
47	chr19:36145400-36152800	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr19:36145800-36157200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr19:36147800-36152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:36147800-36152600	Strong transcription	Aorta	Aorta

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