Variant report

Variant	rs73273994
Chromosome Location	chr8:99478749-99478750
allele	C/T
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	chr8:99478601-99479019	U87	brain:	n/a	n/a
2	CTCF	chr8:99478740-99478890	HCPEpiC	choroid plexus:	n/a	n/a
3	FOS	chr8:99478701-99479057	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr8:99478559-99479002	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr8:99478600-99478750	AG09319	gingival:	n/a	n/a
6	CEBPB	chr8:99478680-99479038	IMR90	lung:	n/a	n/a
7	CTCF	chr8:99478680-99478830	SAEC	small airway:	n/a	n/a
8	FOS	chr8:99478696-99479066	MCF10A-Er-Src	breast:	n/a	n/a
9	SP1	chr8:99478600-99479160	HCT-116	colon:	n/a	n/a
10	FOS	chr8:99478696-99479054	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr8:99478678-99479014	IMR90	lung:	n/a	n/a
12	STAT3	chr8:99478686-99478979	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr8:99478714-99478993	T-47D	breast:	n/a	n/a
14	CTCF	chr8:99478740-99478890	HPAF	blood vessel:	n/a	n/a
15	POU2F2	chr8:99478719-99478956	GM12891	blood:	n/a	chr8:99478852-99478862 chr8:99478851-99478864 chr8:99478851-99478862
16	CTCF	chr8:99478740-99478890	HMF	breast:	n/a	n/a
17	RUNX3	chr8:99478615-99479170	GM12878	blood:	n/a	n/a
18	CTCF	chr8:99478740-99478890	AG10803	skin:	n/a	n/a
19	POLR2A	chr8:99478667-99479045	U87	brain:	n/a	n/a
20	RUNX3	chr8:99478711-99479102	GM12878	blood:	n/a	n/a
21	FOS	chr8:99478673-99479059	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr8:99478720-99478870	HCFaa	heart:	n/a	n/a
23	POU2F2	chr8:99478675-99479053	GM12891	blood:	n/a	chr8:99478852-99478862 chr8:99478851-99478864 chr8:99478851-99478862
24	CTCF	chr8:99478660-99478810	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99476761..99480533-chr8:99480952..99484066,4	MCF-7	breast:
2	chr8:99432219..99434824-chr8:99476981..99478885,2	MCF-7	breast:
3	chr8:99343429..99346182-chr8:99476403..99480248,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-748P	TF binding region

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16892235	1.00[AMR][1000 genomes]
rs60727708	0.85[AFR][1000 genomes]
rs6993159	0.85[AFR][1000 genomes]
rs73273972	0.88[AFR][1000 genomes]
rs73273977	0.88[AFR][1000 genomes]
rs73273979	0.88[AFR][1000 genomes]
rs73273980	0.91[AFR][1000 genomes]
rs73273984	0.91[AFR][1000 genomes]
rs73274001	1.00[AMR][1000 genomes]
rs73275810	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275819	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275823	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275840	0.88[AFR][1000 genomes]
rs73275849	0.85[AFR][1000 genomes]
rs73275851	0.85[AFR][1000 genomes]
rs7831149	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99465200-99478800	Weak transcription	A549	lung
3	chr8:99472000-99479200	Weak transcription	HSMMtube	muscle
4	chr8:99472400-99479000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:99472400-99479000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:99474000-99479200	Weak transcription	Fetal Lung	lung
7	chr8:99474600-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:99475200-99481000	Enhancers	NHDF-Ad	bronchial
9	chr8:99476600-99480000	Enhancers	Osteobl	bone
10	chr8:99477000-99478800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:99477000-99482400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:99477400-99479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:99477400-99479200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:99477400-99485600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:99477400-99491400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:99477600-99478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:99477600-99478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:99477600-99482000	Weak transcription	Fetal Heart	heart
19	chr8:99477600-99482600	Weak transcription	Ovary	ovary
20	chr8:99478000-99479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:99478000-99479800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:99478400-99480400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:99478600-99479200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:99478600-99479400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:99478600-99479400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:99478600-99479400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:99478600-99479400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:99478600-99479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:99478600-99479400	Enhancers	Stomach Mucosa	stomach
30	chr8:99478600-99479400	Enhancers	HSMM	muscle
31	chr8:99478600-99479400	Enhancers	NH-A	brain
32	chr8:99478600-99479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:99478600-99479600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:99478600-99479600	Enhancers	HUVEC	blood vessel
35	chr8:99478600-99479600	Enhancers	NHEK	skin
36	chr8:99478600-99479800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:99478600-99480000	Enhancers	NHLF	lung
38	chr8:99478600-99480400	Enhancers	GM12878-XiMat	blood

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