Variant report

Variant	rs73015652
Chromosome Location	chr3:158451383-158451384
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	GATA3	chr3:158451372-158451935	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:158450862..158452910-chr3:158453728..158455529,2	K562	blood:
2	chr3:158387127..158389095-chr3:158450464..158453049,2	MCF-7	breast:
3	chr3:158449938..158451943-chr3:158452978..158454973,2	K562	blood:

Variant related genes	Relation type
RARRES1	TF binding region
ENSG00000240207	TF binding region
ENSG00000240207	Chromatin interaction
ENSG00000079257	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs4264773	0.86[ASN][1000 genomes]
rs55835802	0.86[ASN][1000 genomes]
rs58152433	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59217052	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313096	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918529	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59957986	1.00[ASN][1000 genomes]
rs61080878	0.86[ASN][1000 genomes]
rs61387735	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61558956	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696028	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67301795	0.86[ASN][1000 genomes]
rs67305172	0.86[ASN][1000 genomes]
rs67446837	0.86[ASN][1000 genomes]
rs6775607	0.86[ASN][1000 genomes]
rs6788069	1.00[ASN][1000 genomes]
rs73015629	0.80[EUR][1000 genomes]
rs73015644	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015649	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73015651	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015654	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015665	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015669	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73017536	1.00[ASN][1000 genomes]
rs73017539	1.00[ASN][1000 genomes]
rs73017540	1.00[ASN][1000 genomes]
rs73017541	1.00[ASN][1000 genomes]
rs73158333	0.86[ASN][1000 genomes]
rs73158334	0.86[ASN][1000 genomes]
rs7609656	0.87[EUR][1000 genomes]
rs7617304	0.86[ASN][1000 genomes]
rs7621322	0.93[EUR][1000 genomes]
rs7624161	1.00[ASN][1000 genomes]
rs7636023	1.00[ASN][1000 genomes]
rs7646881	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646987	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864589	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158449600-158451600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr3:158449800-158451400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:158449800-158483000	Weak transcription	Fetal Heart	heart
4	chr3:158450400-158451400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:158450400-158451600	Weak transcription	HSMMtube	muscle
6	chr3:158450400-158460000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:158450600-158452200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:158450600-158453000	Weak transcription	Primary T cells from cord blood	blood
9	chr3:158450600-158465400	Weak transcription	Left Ventricle	heart
10	chr3:158450800-158451400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:158450800-158451600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:158450800-158452000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:158450800-158452000	Enhancers	Placenta	Placenta
14	chr3:158450800-158452200	Enhancers	Lung	lung
15	chr3:158450800-158452400	Weak transcription	Spleen	Spleen
16	chr3:158450800-158452600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:158450800-158452600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:158450800-158452600	Weak transcription	Brain Substantia Nigra	brain
19	chr3:158450800-158453000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:158450800-158455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:158450800-158460800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:158450800-158464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:158450800-158468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:158450800-158485400	Weak transcription	Psoas Muscle	Psoas
25	chr3:158451000-158451400	Active TSS	Fetal Lung	lung
26	chr3:158451000-158451400	Enhancers	Stomach Smooth Muscle	stomach
27	chr3:158451000-158451600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:158451000-158451600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:158451000-158451600	Enhancers	Esophagus	oesophagus
30	chr3:158451000-158451600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:158451000-158451600	Weak transcription	A549	lung
32	chr3:158451000-158451800	Enhancers	Brain Germinal Matrix	brain
33	chr3:158451000-158451800	Enhancers	Fetal Intestine Small	intestine
34	chr3:158451000-158451800	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:158451000-158451800	Weak transcription	Fetal Stomach	stomach
36	chr3:158451000-158452000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:158451000-158452200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:158451000-158452200	Weak transcription	Fetal Brain Female	brain
39	chr3:158451000-158452600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:158451000-158452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:158451000-158452600	Weak transcription	NHLF	lung
42	chr3:158451000-158452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:158451000-158452800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:158451000-158452800	Weak transcription	Ovary	ovary
45	chr3:158451000-158453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:158451000-158455800	Weak transcription	Osteobl	bone
47	chr3:158451000-158457000	Weak transcription	Pancreas	Pancrea
48	chr3:158451000-158458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:158451000-158459800	Weak transcription	Fetal Brain Male	brain
50	chr3:158451000-158459800	Weak transcription	Rectal Mucosa Donor 29	rectum

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