Variant report

Variant	rs73148992
Chromosome Location	chr3:145873895-145873896
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	chr3:145870477..145872332-chr3:145872492..145874567,2	MCF-7	breast:
2	chr3:145872676..145874418-chr3:145880885..145882915,2	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	0.85[AFR][1000 genomes];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]
rs73148994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148997	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145835800-145874000	Weak transcription	Psoas Muscle	Psoas
2	chr3:145840400-145874000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:145856400-145875800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:145860400-145875600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:145860800-145874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:145860800-145874000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:145861000-145876400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:145861800-145874000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:145861800-145874000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:145862400-145874000	Weak transcription	Lung	lung
11	chr3:145868000-145874000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:145870000-145874000	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:145870600-145876800	Weak transcription	Hela-S3	cervix
14	chr3:145870800-145876800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:145871000-145874000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:145871000-145874000	Enhancers	Fetal Intestine Small	intestine
17	chr3:145871000-145874000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:145871000-145874000	Weak transcription	Stomach Mucosa	stomach
19	chr3:145871400-145874000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:145871400-145874000	Weak transcription	Fetal Stomach	stomach
21	chr3:145871400-145874000	Weak transcription	Right Ventricle	heart
22	chr3:145871400-145877800	Weak transcription	Gastric	stomach
23	chr3:145871600-145874000	Weak transcription	Ovary	ovary
24	chr3:145871600-145874000	Weak transcription	Pancreas	Pancrea
25	chr3:145871600-145874000	Weak transcription	Small Intestine	intestine
26	chr3:145871600-145874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:145871600-145874400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:145871600-145876800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:145871600-145877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:145871600-145877600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:145871800-145876600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:145872200-145874000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr3:145872800-145875800	Enhancers	Fetal Intestine Large	intestine
34	chr3:145873000-145875800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:145873000-145877600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:145873400-145874400	Enhancers	Fetal Heart	heart
37	chr3:145873600-145874000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:145873600-145874000	Enhancers	Brain Anterior Caudate	brain
39	chr3:145873600-145874400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr3:145873600-145874400	Active TSS	Right Atrium	heart
41	chr3:145873600-145874400	Flanking Active TSS	Osteobl	bone
42	chr3:145873600-145875200	Flanking Active TSS	A549	lung
43	chr3:145873600-145875800	Active TSS	Aorta	Aorta
44	chr3:145873600-145876600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:145873600-145879800	Active TSS	Stomach Smooth Muscle	stomach
46	chr3:145873800-145874000	Enhancers	Brain Hippocampus Middle	brain
47	chr3:145873800-145874000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:145873800-145874000	Active TSS	Colonic Mucosa	Colon
49	chr3:145873800-145874000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:145873800-145874000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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