Variant report

Variant	rs7260609
Chromosome Location	chr19:36585589-36585590
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	chr19:36580223..36582667-chr19:36584445..36586410,2	MCF-7	breast:
2	chr19:36583233..36586201-chr19:36617082..36618818,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10407011	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10414877	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10420353	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10421966	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10423651	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10425692	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12462432	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12462632	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12462674	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12972490	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12976505	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12976812	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12977814	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12978482	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12981654	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17639286	0.86[EUR][1000 genomes]
rs2023865	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239510	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35125548	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35875194	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3826995	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4461192	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56034793	0.88[ASN][1000 genomes]
rs62109743	0.88[ASN][1000 genomes]
rs71337524	0.85[EUR][1000 genomes]
rs721542	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7245762	0.92[ASN][1000 genomes]
rs7257383	0.92[ASN][1000 genomes]
rs7259592	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103569	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
2	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:36546800-36588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:36548200-36596400	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr19:36555000-36593000	Weak transcription	Fetal Lung	lung
8	chr19:36556000-36601600	Weak transcription	Pancreas	Pancrea
9	chr19:36561200-36587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:36561200-36597600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:36561200-36597600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:36561200-36597600	Strong transcription	Dnd41	blood
13	chr19:36561200-36598200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:36561200-36598400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:36561400-36587800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:36561400-36596400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:36561400-36596600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:36562000-36588600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:36563000-36594200	Weak transcription	HSMM	muscle
20	chr19:36566000-36592000	Weak transcription	HMEC	breast
21	chr19:36568600-36598000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:36568800-36594800	Strong transcription	A549	lung
23	chr19:36568800-36601400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:36570000-36598000	Strong transcription	Fetal Thymus	thymus
25	chr19:36571600-36586400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:36571600-36596600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr19:36571800-36588400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:36571800-36588600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:36571800-36591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:36571800-36598400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:36571800-36600000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:36571800-36600600	Strong transcription	Fetal Stomach	stomach
33	chr19:36572000-36598000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:36572200-36586400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:36572200-36586600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:36572200-36588200	Strong transcription	Fetal Muscle Leg	muscle
37	chr19:36572400-36585800	Strong transcription	Fetal Intestine Small	intestine
38	chr19:36572400-36588400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:36572400-36588400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:36572400-36602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:36572800-36586000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:36573800-36602400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:36574200-36593600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:36574200-36602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:36574400-36592600	Weak transcription	HUVEC	blood vessel
46	chr19:36574600-36604400	Weak transcription	NHDF-Ad	bronchial
47	chr19:36574800-36587800	Weak transcription	NH-A	brain
48	chr19:36575400-36604200	Weak transcription	Primary B cells from cord blood	blood
49	chr19:36578800-36586600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:36580000-36590400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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