Variant report

Variant	rs73291283
Chromosome Location	chr7:16457199-16457200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16302626..16306339-chr7:16456665..16460333,5	K562	blood:
2	chr7:16456001..16461931-chr7:16682283..16687700,6	K562	blood:
3	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
4	chr7:16455152..16459514-chr7:16459744..16463250,7	MCF-7	breast:
5	chr7:16456961..16459582-chr7:16459937..16461767,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214960	Chromatin interaction
ENSG00000106524	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000229688	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28671496	1.00[AMR][1000 genomes]
rs57839487	1.00[AMR][1000 genomes]
rs58774802	1.00[AMR][1000 genomes]
rs59406256	1.00[AMR][1000 genomes]
rs61498161	1.00[AMR][1000 genomes]
rs61540132	1.00[AMR][1000 genomes]
rs73291270	1.00[AFR][1000 genomes]
rs73293109	1.00[AMR][1000 genomes]
rs73293213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293598	1.00[AMR][1000 genomes]
rs73295204	1.00[AMR][1000 genomes]
rs73295214	1.00[AMR][1000 genomes]
rs73295216	1.00[AMR][1000 genomes]
rs73298620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307921	1.00[AMR][1000 genomes]
rs73308339	1.00[AMR][1000 genomes]
rs73308341	1.00[AMR][1000 genomes]
rs73308385	1.00[AMR][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16440400-16459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:16450000-16459600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:16450600-16459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:16452400-16457200	Enhancers	K562	blood
6	chr7:16453000-16458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:16453000-16459600	Weak transcription	Pancreas	Pancrea
8	chr7:16453000-16460400	Weak transcription	Gastric	stomach
9	chr7:16453800-16459400	Weak transcription	Fetal Heart	heart
10	chr7:16455400-16457800	Enhancers	NHDF-Ad	bronchial
11	chr7:16455400-16459600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:16455600-16457800	Enhancers	Osteobl	bone
13	chr7:16455800-16457400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:16455800-16457400	Enhancers	NH-A	brain
15	chr7:16455800-16457800	Enhancers	HSMM	muscle
16	chr7:16455800-16459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:16456000-16457600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:16456000-16457800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:16456200-16457200	Enhancers	HSMMtube	muscle
20	chr7:16456200-16457800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:16456200-16458000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:16456400-16457200	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:16456400-16457200	Enhancers	NHLF	lung
24	chr7:16456400-16457400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:16456400-16457800	Enhancers	HMEC	breast
26	chr7:16456400-16459600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:16456400-16459800	Weak transcription	Lung	lung
28	chr7:16456600-16458400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:16456600-16458600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:16456600-16459800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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