Variant report

Variant	rs72948495
Chromosome Location	chr3:112531505-112531506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112524734..112528848-chr3:112531352..112536071,5	MCF-7	breast:
2	chr3:112451598..112455262-chr3:112529642..112532611,4	MCF-7	breast:
3	chr3:112527413..112529549-chr3:112531085..112533830,2	MCF-7	breast:
4	chr3:112355777..112361345-chr3:112530635..112535712,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11918463	1.00[EUR][1000 genomes]
rs11919852	1.00[EUR][1000 genomes]
rs56874152	1.00[EUR][1000 genomes]
rs58317173	1.00[EUR][1000 genomes]
rs59235825	1.00[EUR][1000 genomes]
rs59242272	1.00[EUR][1000 genomes]
rs60293452	1.00[EUR][1000 genomes]
rs60556260	1.00[EUR][1000 genomes]
rs6787825	1.00[EUR][1000 genomes]
rs6799989	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6805160	1.00[EUR][1000 genomes]
rs6809039	0.81[AFR][1000 genomes]
rs72942070	1.00[EUR][1000 genomes]
rs72948480	1.00[EUR][1000 genomes]
rs72950317	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950381	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950401	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112521600-112531600	Weak transcription	Stomach Mucosa	stomach
2	chr3:112527400-112532600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:112528800-112533600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:112529200-112533200	Enhancers	Colon Smooth Muscle	Colon
5	chr3:112529200-112533600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:112529400-112533200	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:112529400-112533200	Enhancers	NHLF	lung
8	chr3:112529400-112533400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:112529600-112531600	Enhancers	Fetal Stomach	stomach
10	chr3:112529600-112533600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:112529800-112533200	Enhancers	HSMMtube	muscle
12	chr3:112529800-112534000	Enhancers	A549	lung
13	chr3:112530000-112533000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:112530000-112533000	Enhancers	K562	blood
15	chr3:112530200-112533600	Enhancers	NHDF-Ad	bronchial
16	chr3:112530200-112533800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:112530200-112538800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:112530400-112532200	Weak transcription	Aorta	Aorta
19	chr3:112530400-112532800	Enhancers	Primary B cells from cord blood	blood
20	chr3:112530400-112534000	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:112530600-112532000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr3:112530600-112533600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:112530800-112531600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:112530800-112532800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:112531000-112532000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:112531000-112532200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:112531000-112532200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:112531000-112532400	Weak transcription	Fetal Kidney	kidney
29	chr3:112531000-112532400	Weak transcription	Ovary	ovary
30	chr3:112531000-112532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:112531000-112533000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:112531000-112533200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:112531000-112533400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:112531200-112532000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:112531200-112532200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:112531200-112532200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:112531200-112532200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:112531200-112532200	Weak transcription	Right Atrium	heart
39	chr3:112531200-112532200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:112531200-112532200	Weak transcription	HSMM	muscle
41	chr3:112531200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr3:112531200-112532400	Weak transcription	NH-A	brain
43	chr3:112531200-112532600	Enhancers	Stomach Smooth Muscle	stomach
44	chr3:112531200-112533200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:112531200-112533200	Enhancers	Primary T cells from cord blood	blood
46	chr3:112531200-112533200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:112531400-112531800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:112531400-112531800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:112531400-112531800	Weak transcription	Osteobl	bone
50	chr3:112531400-112533000	Enhancers	Adipose Nuclei	Adipose

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