Variant report

Variant	rs73599271
Chromosome Location	chr19:36147727-36147728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36110588..36113129-chr19:36146475..36149115,2	K562	blood:
2	chr19:36141764..36144285-chr19:36146929..36148660,2	K562	blood:
3	chr19:36133838..36136832-chr19:36145196..36147862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105672	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000126267	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11546662	0.83[EUR][1000 genomes]
rs11546665	0.83[EUR][1000 genomes]
rs12459935	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17776834	0.83[EUR][1000 genomes]
rs2227278	0.85[EUR][1000 genomes]
rs2234360	0.85[EUR][1000 genomes]
rs2234375	0.83[EUR][1000 genomes]
rs2267585	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267586	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2285420	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2311873	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2871893	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2871894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34562867	0.82[EUR][1000 genomes]
rs3817622	0.83[EUR][1000 genomes]
rs3893069	0.83[EUR][1000 genomes]
rs41361648	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4580318	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4992668	0.83[EUR][1000 genomes]
rs56849855	0.84[EUR][1000 genomes]
rs57180990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58255615	0.83[EUR][1000 genomes]
rs58496446	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58952294	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60264154	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61220012	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61254015	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61375471	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73590543	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73590544	0.80[AMR][1000 genomes]
rs73590559	0.84[EUR][1000 genomes]
rs73590564	0.82[EUR][1000 genomes]
rs73590568	0.85[EUR][1000 genomes]
rs73590576	0.83[EUR][1000 genomes]
rs73590585	0.82[EUR][1000 genomes]
rs73590591	0.82[EUR][1000 genomes]
rs73590598	0.83[EUR][1000 genomes]
rs73592416	0.83[EUR][1000 genomes]
rs73592448	0.83[EUR][1000 genomes]
rs73592461	0.83[EUR][1000 genomes]
rs73599272	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73599274	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73599279	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73599281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73599286	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73599289	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73600880	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73600881	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73600885	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73600892	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73600893	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73600899	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73602803	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73602804	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73602806	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73602823	0.84[EUR][1000 genomes]
rs73602827	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73602832	0.84[EUR][1000 genomes]
rs73602833	0.83[AMR][1000 genomes];0.84[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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140000-36147800	Weak transcription	Aorta	Aorta
2	chr19:36140000-36148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36140000-36154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36140200-36152800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36140400-36149200	Weak transcription	Small Intestine	intestine
6	chr19:36140400-36151600	Weak transcription	Stomach Mucosa	stomach
7	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
8	chr19:36140600-36150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:36140600-36153800	Strong transcription	Fetal Intestine Small	intestine
10	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
11	chr19:36140800-36153800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:36141000-36155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
15	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:36141600-36151200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:36141600-36152600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:36141800-36150200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:36141800-36151200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:36141800-36152800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:36141800-36153000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr19:36141800-36154000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
24	chr19:36142000-36151200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:36142000-36151400	Strong transcription	Lung	lung
26	chr19:36142000-36152200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:36142200-36151200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
30	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
31	chr19:36142400-36152800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:36142800-36152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:36143000-36153800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:36143600-36156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr19:36144600-36149600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:36144600-36149800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr19:36144600-36150200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:36144600-36150200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:36144600-36150200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:36144600-36150800	Strong transcription	Liver	Liver
43	chr19:36144600-36151000	Strong transcription	Dnd41	blood
44	chr19:36144600-36151200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:36144600-36151200	Strong transcription	Adipose Nuclei	Adipose
46	chr19:36144600-36151200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr19:36144600-36151200	Strong transcription	A549	lung
48	chr19:36144600-36152200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:36144600-36152600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr19:36144600-36152800	Strong transcription	Monocytes-CD14+_RO01746	blood

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