Variant report

Variant	rs73781306
Chromosome Location	chr5:107593722-107593723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107578995..107581468-chr5:107593247..107594790,2	MCF-7	breast:
2	chr5:107593297..107597338-chr5:107716343..107718522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs2416527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28513512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28613928	0.89[AFR][1000 genomes]
rs55825519	1.00[AMR][1000 genomes]
rs56024626	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56902538	0.83[AMR][1000 genomes]
rs56929525	0.83[AMR][1000 genomes]
rs57269490	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57354704	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57911118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58040806	0.83[AMR][1000 genomes]
rs58537065	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58899755	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59704928	0.83[AMR][1000 genomes]
rs60212774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60381359	0.83[AMR][1000 genomes]
rs61096927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61201760	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61614616	1.00[AMR][1000 genomes]
rs61651364	0.90[AFR][1000 genomes]
rs6861104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6867893	0.83[AMR][1000 genomes]
rs6879038	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6879616	0.83[AMR][1000 genomes]
rs6883115	0.83[AMR][1000 genomes]
rs73778679	0.83[AMR][1000 genomes]
rs73778680	0.83[AMR][1000 genomes]
rs73778683	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778688	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778698	0.83[AMR][1000 genomes]
rs73781305	0.83[AMR][1000 genomes]
rs73781307	0.83[AMR][1000 genomes]
rs73781308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781309	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781312	0.83[AMR][1000 genomes]
rs73781318	0.90[AFR][1000 genomes]
rs73781319	0.90[AFR][1000 genomes]
rs73781321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781322	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781323	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781324	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781326	0.83[AMR][1000 genomes]
rs73781327	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781331	1.00[AMR][1000 genomes]
rs73781332	0.83[AMR][1000 genomes]
rs73781335	0.83[AMR][1000 genomes]
rs73781336	0.83[AMR][1000 genomes]
rs73781339	1.00[AMR][1000 genomes]
rs73781340	1.00[AMR][1000 genomes]
rs73781344	1.00[AMR][1000 genomes]
rs7700974	0.92[AFR][1000 genomes]
rs7706175	0.90[AFR][1000 genomes]
rs7706235	1.00[AMR][1000 genomes]
rs7709699	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7710598	0.90[AFR][1000 genomes]
rs7713871	0.83[AMR][1000 genomes]
rs7721632	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7722719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7722938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7725340	0.83[AMR][1000 genomes]
rs7726195	0.83[AMR][1000 genomes]
rs7728430	0.83[AMR][1000 genomes]
rs7737425	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs962681	0.87[AFR][1000 genomes];1.00[AMR][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	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882685	chr5:107564746-107695558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv4950	chr5:107587778-107637348	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107561400-107595000	Weak transcription	Psoas Muscle	Psoas
2	chr5:107575200-107596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:107575400-107617600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:107575600-107595000	Weak transcription	Right Ventricle	heart
5	chr5:107576800-107595200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:107577000-107616000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107585000-107617800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:107586200-107595000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:107587800-107595000	Weak transcription	Liver	Liver
10	chr5:107588800-107594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:107589200-107595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:107589400-107595000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:107589400-107595200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:107589600-107595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:107589800-107595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:107591800-107596200	Weak transcription	Ovary	ovary
17	chr5:107592000-107593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:107592000-107593800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:107592000-107595000	Weak transcription	Fetal Intestine Large	intestine
20	chr5:107592000-107595800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:107592000-107596000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:107592800-107595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:107593200-107596400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:107593600-107594000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:107593600-107594000	Enhancers	NHDF-Ad	bronchial
26	chr5:107593600-107595400	Enhancers	HSMM	muscle
27	chr5:107593600-107596400	Enhancers	HSMMtube	muscle
28	chr5:107593600-107596600	Enhancers	Fetal Heart	heart
29	chr5:107593600-107614000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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