Variant report

Variant	rs7372667
Chromosome Location	chr3:139096278-139096279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:139095204..139096886-chr3:139101729..139104066,2	K562	blood:
2	chr3:139091608..139097785-chr3:139099918..139103332,6	K562	blood:
3	chr3:139061874..139064173-chr3:139096150..139098745,2	K562	blood:
4	chr3:139089698..139093980-chr3:139094699..139097879,5	K562	blood:
5	chr3:139090377..139093980-chr3:139095333..139098984,3	K562	blood:
6	chr3:139095835..139098675-chr3:139105863..139109182,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248932	Chromatin interaction
ENSG00000175110	Chromatin interaction
ENSG00000184432	Chromatin interaction
ENSG00000252245	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10804665	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371340	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1599744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs167186	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16849065	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16849083	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176986	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176988	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs176989	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1873668	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs211583	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs295491	1.00[JPT][hapmap]
rs4243399	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525826	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55735000	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56265838	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60144275	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61525084	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6439851	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7372737	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73868351	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7621965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7636369	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824044	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824195	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838015	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864352	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139064400-139097200	Strong transcription	Fetal Muscle Leg	muscle
2	chr3:139065000-139101200	Strong transcription	Primary T cells from cord blood	blood
3	chr3:139065000-139103800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:139065000-139103800	Strong transcription	HSMM	muscle
5	chr3:139065000-139104000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:139065200-139096800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:139065200-139098000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:139065200-139102000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:139065200-139102200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr3:139065400-139097600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:139065400-139102200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:139065400-139102400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr3:139065400-139102600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:139065400-139102600	Strong transcription	Osteobl	bone
15	chr3:139065400-139103600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:139065400-139103800	Strong transcription	Fetal Thymus	thymus
17	chr3:139065600-139100200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:139065600-139101800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:139065600-139102400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:139065600-139102400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:139065600-139102400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr3:139065600-139103600	Strong transcription	HUVEC	blood vessel
23	chr3:139065600-139103600	Strong transcription	NH-A	brain
24	chr3:139065600-139103800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:139065600-139103800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:139065800-139098200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr3:139065800-139098200	Strong transcription	HMEC	breast
28	chr3:139065800-139101600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:139065800-139101600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr3:139065800-139102400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:139065800-139102400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:139065800-139102600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:139065800-139102800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:139065800-139103200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr3:139065800-139103600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:139065800-139104400	Strong transcription	Dnd41	blood
37	chr3:139066000-139098200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:139066000-139098200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:139066000-139101800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:139066000-139103600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr3:139066200-139099600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:139066200-139102400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:139066200-139103800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:139066400-139102400	Strong transcription	Placenta	Placenta
45	chr3:139067000-139098000	Strong transcription	Fetal Kidney	kidney
46	chr3:139067000-139098000	Strong transcription	Ovary	ovary
47	chr3:139069200-139096400	Strong transcription	Thymus	Thymus
48	chr3:139071200-139102200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:139072800-139101600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr3:139073000-139101400	Strong transcription	Left Ventricle	heart

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