Variant report

Variant	rs73148996
Chromosome Location	chr3:145874931-145874932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145804083..145806262-chr3:145874178..145876137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152952	Chromatin interaction

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

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

rs_ID	r²[population]
rs11928424	0.87[ASN][1000 genomes]
rs17412259	0.86[EUR][1000 genomes]
rs2864795	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34803917	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762690	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4681295	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4681296	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4681298	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4681300	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6780480	0.83[EUR][1000 genomes]
rs73148913	0.86[EUR][1000 genomes]
rs73148936	0.86[EUR][1000 genomes]
rs73148944	0.83[EUR][1000 genomes]
rs73148974	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73148977	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73148979	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73148981	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73148992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148999	0.96[ASN][1000 genomes]
rs73149001	0.87[ASN][1000 genomes]
rs73150804	0.87[ASN][1000 genomes]
rs73150806	0.87[ASN][1000 genomes]
rs73150808	0.87[ASN][1000 genomes]
rs73150809	0.87[ASN][1000 genomes]
rs73150811	0.87[ASN][1000 genomes]
rs73150812	0.87[ASN][1000 genomes]
rs73150813	0.87[ASN][1000 genomes]
rs73150816	0.87[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	nsv4046	chr3:145693249-145880189	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv877613	chr3:145833232-145912055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1011146	chr3:145859022-145911429	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145856400-145875800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:145860400-145875600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:145861000-145876400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:145870600-145876800	Weak transcription	Hela-S3	cervix
5	chr3:145870800-145876800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:145871400-145877800	Weak transcription	Gastric	stomach
7	chr3:145871600-145876800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:145871600-145877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:145871600-145877600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:145871800-145876600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:145872800-145875800	Enhancers	Fetal Intestine Large	intestine
12	chr3:145873000-145875800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:145873000-145877600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:145873600-145875200	Flanking Active TSS	A549	lung
15	chr3:145873600-145875800	Active TSS	Aorta	Aorta
16	chr3:145873600-145876600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:145873600-145879800	Active TSS	Stomach Smooth Muscle	stomach
18	chr3:145873800-145875000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:145873800-145875000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:145873800-145875000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:145873800-145875000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr3:145873800-145875000	Enhancers	Brain Substantia Nigra	brain
23	chr3:145873800-145875000	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr3:145873800-145875000	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr3:145873800-145875600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:145873800-145875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:145873800-145875600	Enhancers	Fetal Kidney	kidney
28	chr3:145873800-145876000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:145873800-145876000	Enhancers	NH-A	brain
30	chr3:145873800-145876200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:145873800-145876800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:145873800-145876800	Enhancers	Fetal Lung	lung
33	chr3:145873800-145877000	Flanking Active TSS	HUVEC	blood vessel
34	chr3:145874000-145875000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:145874000-145875000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:145874000-145875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr3:145874000-145875000	Enhancers	Fetal Muscle Leg	muscle
38	chr3:145874000-145875000	Active TSS	Psoas Muscle	Psoas
39	chr3:145874000-145875400	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:145874000-145875400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:145874000-145875800	Enhancers	Fetal Stomach	stomach
42	chr3:145874000-145876000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:145874000-145876800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:145874000-145876800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:145874000-145876800	Enhancers	Brain Angular Gyrus	brain
46	chr3:145874000-145877000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:145874000-145877800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:145874200-145876400	Enhancers	HMEC	breast
49	chr3:145874200-145878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:145874200-145880000	Active TSS	Right Ventricle	heart

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