Variant report

Variant	rs72957350
Chromosome Location	chr6:74498753-74498754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr6:74498611-74499015	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr6:74498675-74499164	HUVEC	blood vessel:	n/a	chr6:74498931-74498942
3	FOS	chr6:74498577-74499182	MCF10A-Er-Src	breast:	n/a	chr6:74498931-74498942
4	FOS	chr6:74498726-74499201	MCF10A-Er-Src	breast:	n/a	chr6:74498931-74498942
5	FOS	chr6:74498732-74499145	MCF10A-Er-Src	breast:	n/a	chr6:74498931-74498942
6	FOSL2	chr6:74498665-74499204	SK-N-SH	brain:	n/a	n/a
7	STAT3	chr6:74498647-74499175	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr6:74498729-74499138	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:74498627-74499190	HUVEC	blood vessel:	n/a	n/a
10	JUN	chr6:74498748-74499200	HUVEC	blood vessel:	n/a	n/a
11	STAT3	chr6:74498478-74499183	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr6:74498647-74499180	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CD109	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12192907	0.83[AFR][1000 genomes]
rs1992140	1.00[AFR][1000 genomes]
rs41266753	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45464791	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45474895	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55878103	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56201021	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58789425	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72955232	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72957306	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72957333	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72957339	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72959395	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
6	chr6:74477400-74543400	Weak transcription	Lung	lung
7	chr6:74484400-74505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:74484600-74500200	Weak transcription	Left Ventricle	heart
9	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
12	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
13	chr6:74484800-74512600	Weak transcription	HSMM	muscle
14	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
18	chr6:74490600-74503600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:74490800-74500200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:74491000-74499800	Weak transcription	Primary T cells from cord blood	blood
23	chr6:74491600-74508000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:74492400-74510800	Weak transcription	A549	lung
25	chr6:74492600-74504600	Weak transcription	Stomach Mucosa	stomach
26	chr6:74494000-74505400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:74494400-74502800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
29	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
31	chr6:74495600-74500200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:74495800-74500400	Weak transcription	Fetal Brain Male	brain
33	chr6:74496000-74500000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:74496800-74528800	Weak transcription	Dnd41	blood
35	chr6:74497000-74505200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr6:74497200-74500000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:74497600-74499000	Genic enhancers	HUVEC	blood vessel
38	chr6:74497600-74499200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:74497800-74498800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:74497800-74498800	Strong transcription	Adipose Nuclei	Adipose
41	chr6:74497800-74500000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:74497800-74500200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:74497800-74500200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:74498000-74498800	Genic enhancers	NHDF-Ad	bronchial
45	chr6:74498000-74499200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:74498000-74499200	Genic enhancers	HMEC	breast
47	chr6:74498200-74498800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:74498200-74499000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr6:74498200-74499000	Genic enhancers	NHEK	skin
50	chr6:74498200-74499200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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