Variant report

Variant	rs60305372
Chromosome Location	chr19:45691882-45691883
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	chr19:45681420..45684587-chr19:45687242..45692393,7	MCF-7	breast:
2	chr19:45680559..45684359-chr19:45688843..45692525,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189114	Chromatin interaction
ENSG00000007255	Chromatin interaction
ENSG00000267545	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41275760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504789	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv2422482	chr19:45676705-45769805	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv833844	chr19:45684309-45887406	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45683400-45693200	Weak transcription	Aorta	Aorta
2	chr19:45684000-45695200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:45684800-45696000	Weak transcription	Fetal Intestine Large	intestine
4	chr19:45684800-45697600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:45684800-45701000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:45684800-45715000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:45685000-45695000	Weak transcription	Ovary	ovary
8	chr19:45685000-45698600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:45685000-45699000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:45685000-45704600	Weak transcription	Esophagus	oesophagus
11	chr19:45685000-45705600	Weak transcription	Lung	lung
12	chr19:45685000-45705800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:45685200-45698800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:45685600-45694800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:45685600-45696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:45686400-45694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:45686400-45694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:45686400-45694800	Weak transcription	NHEK	skin
19	chr19:45686600-45699000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:45687000-45692800	Weak transcription	Fetal Intestine Small	intestine
21	chr19:45687600-45695400	Weak transcription	K562	blood
22	chr19:45690800-45714000	Weak transcription	Liver	Liver
23	chr19:45691000-45692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:45691000-45694400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:45691000-45694400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:45691000-45695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:45691000-45695200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:45691000-45695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:45691000-45696200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:45691000-45702800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:45691000-45705600	Weak transcription	Gastric	stomach
32	chr19:45691000-45705600	Weak transcription	Spleen	Spleen

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