Variant report

Variant	rs73015654
Chromosome Location	chr3:158451654-158451655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:158451448-158451896	MCF-7	breast:	n/a	n/a
2	GATA3	chr3:158451484-158451935	T-47D	breast:	n/a	n/a
3	MYC	chr3:158451607-158451698	MCF-7	breast:	n/a	n/a
4	GATA3	chr3:158451372-158451935	MCF-7	breast:	n/a	n/a
5	CEBPB	chr3:158451495-158451984	MCF-7	breast:	n/a	n/a
6	GATA3	chr3:158451447-158451913	T-47D	breast:	n/a	n/a
7	POLR2A	chr3:158451584-158451784	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

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:

No data

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	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313096	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918529	0.86[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	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61558956	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696028	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441222	0.88[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	1.00[AFR][1000 genomes];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]
rs73015652	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015655	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015657	0.98[AFR][1000 genomes];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	0.93[AFR][1000 genomes];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	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646987	0.94[AFR][1000 genomes];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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158449800-158483000	Weak transcription	Fetal Heart	heart
2	chr3:158450400-158460000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:158450600-158452200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:158450600-158453000	Weak transcription	Primary T cells from cord blood	blood
5	chr3:158450600-158465400	Weak transcription	Left Ventricle	heart
6	chr3:158450800-158452000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:158450800-158452000	Enhancers	Placenta	Placenta
8	chr3:158450800-158452200	Enhancers	Lung	lung
9	chr3:158450800-158452400	Weak transcription	Spleen	Spleen
10	chr3:158450800-158452600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:158450800-158452600	Weak transcription	Brain Angular Gyrus	brain
12	chr3:158450800-158452600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:158450800-158453000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:158450800-158455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:158450800-158460800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:158450800-158464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:158450800-158468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:158450800-158485400	Weak transcription	Psoas Muscle	Psoas
19	chr3:158451000-158451800	Enhancers	Brain Germinal Matrix	brain
20	chr3:158451000-158451800	Enhancers	Fetal Intestine Small	intestine
21	chr3:158451000-158451800	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:158451000-158451800	Weak transcription	Fetal Stomach	stomach
23	chr3:158451000-158452000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:158451000-158452200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:158451000-158452200	Weak transcription	Fetal Brain Female	brain
26	chr3:158451000-158452600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:158451000-158452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:158451000-158452600	Weak transcription	NHLF	lung
29	chr3:158451000-158452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:158451000-158452800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:158451000-158452800	Weak transcription	Ovary	ovary
32	chr3:158451000-158453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:158451000-158455800	Weak transcription	Osteobl	bone
34	chr3:158451000-158457000	Weak transcription	Pancreas	Pancrea
35	chr3:158451000-158458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:158451000-158459800	Weak transcription	Fetal Brain Male	brain
37	chr3:158451000-158459800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:158451000-158460000	Weak transcription	Fetal Intestine Large	intestine
39	chr3:158451000-158462000	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:158451000-158463400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:158451000-158463800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:158451000-158464000	Weak transcription	Colonic Mucosa	Colon
43	chr3:158451000-158464400	Weak transcription	NH-A	brain
44	chr3:158451000-158464800	Weak transcription	Gastric	stomach
45	chr3:158451000-158484200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:158451000-158485800	Weak transcription	Fetal Kidney	kidney
47	chr3:158451200-158452600	Weak transcription	Adipose Nuclei	Adipose
48	chr3:158451200-158452600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:158451400-158451800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:158451400-158451800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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