Variant report

Variant	rs72953369
Chromosome Location	chr6:74407618-74407619
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	POLR2A	chr6:74404553-74407749	HUVEC	blood vessel:	n/a	n/a
2	GABPA	chr6:74407384-74407764	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74405938..74408265-chr6:74438560..74441116,2	MCF-7	breast:
2	chr6:74399537..74401947-chr6:74407305..74409103,2	MCF-7	breast:
3	chr6:74365580..74367470-chr6:74406292..74408552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231652	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs41265535	1.00[AFR][1000 genomes]
rs45474895	1.00[AFR][1000 genomes]
rs55818648	1.00[AFR][1000 genomes]
rs55860270	1.00[AFR][1000 genomes]
rs55982851	0.94[EUR][1000 genomes]
rs56171536	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56286966	1.00[AFR][1000 genomes]
rs56311419	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72953372	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72953375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72953390	1.00[AFR][1000 genomes]
rs72953401	1.00[AFR][1000 genomes]
rs72955214	1.00[AFR][1000 genomes]
rs72955232	0.83[AFR][1000 genomes]
rs9442946	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442947	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446984	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446986	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446988	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74404600-74407800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:74405000-74408000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr6:74406600-74407800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:74406600-74409200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:74406600-74412800	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr6:74406600-74414000	Weak transcription	Placenta	Placenta
7	chr6:74406800-74407800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:74406800-74407800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:74406800-74408400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:74406800-74408600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:74407000-74407800	Enhancers	Fetal Heart	heart
12	chr6:74407000-74407800	Flanking Active TSS	A549	lung
13	chr6:74407000-74410000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:74407200-74407800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:74407200-74407800	Enhancers	Colon Smooth Muscle	Colon
16	chr6:74407200-74407800	Enhancers	Thymus	Thymus
17	chr6:74407200-74408000	Enhancers	Primary T cells from cord blood	blood
18	chr6:74407200-74408600	Transcr. at gene 5' and 3'	HMEC	breast
19	chr6:74407200-74408600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
20	chr6:74407200-74413000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:74407200-74413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:74407200-74414200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:74407200-74414200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:74407200-74421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:74407200-74422400	Weak transcription	Fetal Lung	lung
26	chr6:74407200-74423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:74407200-74424800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:74407400-74407800	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:74407400-74407800	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr6:74407400-74407800	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr6:74407400-74408000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr6:74407400-74408800	Strong transcription	HSMM	muscle
33	chr6:74407400-74409800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:74407400-74413000	Weak transcription	NH-A	brain
35	chr6:74407400-74414000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:74407400-74414400	Weak transcription	Brain Anterior Caudate	brain
37	chr6:74407400-74423000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:74407600-74407800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:74407600-74407800	Enhancers	Hela-S3	cervix
40	chr6:74407600-74407800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
41	chr6:74407600-74407800	Genic enhancers	Osteobl	bone
42	chr6:74407600-74408000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:74407600-74408000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:74407600-74408000	Enhancers	NHEK	skin
45	chr6:74407600-74409000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:74407600-74412000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:74407600-74412800	Weak transcription	NHLF	lung
48	chr6:74407600-74413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:74407600-74413000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:74407600-74413000	Weak transcription	Placenta Amnion	Placenta Amnion

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