Variant report

Variant	rs73673169
Chromosome Location	chr7:5547084-5547085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5529665..5550961-chr7:5562806..5572698,47	MCF-7	breast:
2	chr7:5545674..5550097-chr7:5550783..5554020,6	K562	blood:
3	chr7:5534430..5537353-chr7:5547005..5549509,2	K562	blood:
4	chr7:5546547..5550988-chr7:5551172..5555472,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207973	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56984603	1.00[AMR][1000 genomes]
rs57926060	1.00[AMR][1000 genomes]
rs58090944	1.00[AMR][1000 genomes]
rs58158005	1.00[AMR][1000 genomes]
rs58464539	1.00[AMR][1000 genomes]
rs60300172	1.00[AMR][1000 genomes]
rs73334470	1.00[AMR][1000 genomes]
rs73334479	1.00[AMR][1000 genomes]
rs73336207	1.00[AMR][1000 genomes]
rs73336224	1.00[AMR][1000 genomes]
rs73336227	1.00[AMR][1000 genomes]
rs73336234	1.00[AMR][1000 genomes]
rs73336241	1.00[AMR][1000 genomes]
rs73338039	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
6	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
8	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
9	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
11	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
12	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
13	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
14	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
15	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
16	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
17	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
18	nsv517558	chr7:5506499-5572132	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	260 gene(s)	inside rSNPs	diseases
19	nsv887410	chr7:5508644-5552436	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
20	nsv887411	chr7:5516940-5568294	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
21	nsv471304	chr7:5516940-5568366	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
22	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
23	nsv530985	chr7:5536846-5570918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	246 gene(s)	inside rSNPs	diseases
24	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5535600-5552200	Weak transcription	NHDF-Ad	bronchial
2	chr7:5535800-5552200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:5536000-5548200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:5536200-5547800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:5536200-5552600	Weak transcription	Right Atrium	heart
6	chr7:5536800-5552000	Weak transcription	Small Intestine	intestine
7	chr7:5537600-5552200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:5537600-5552200	Weak transcription	Fetal Kidney	kidney
9	chr7:5540200-5547200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:5541200-5547400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:5541400-5549000	Weak transcription	HUVEC	blood vessel
12	chr7:5541600-5547200	Strong transcription	Thymus	Thymus
13	chr7:5541600-5552400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:5541600-5552400	Weak transcription	Psoas Muscle	Psoas
15	chr7:5541800-5552000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:5541800-5552000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:5541800-5552000	Weak transcription	Fetal Lung	lung
18	chr7:5541800-5552200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:5542200-5552000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:5542200-5552200	Weak transcription	Brain Substantia Nigra	brain
21	chr7:5542200-5552400	Weak transcription	Right Ventricle	heart
22	chr7:5542600-5552200	Weak transcription	Brain Germinal Matrix	brain
23	chr7:5543000-5552200	Weak transcription	Stomach Mucosa	stomach
24	chr7:5543200-5552000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:5543200-5552200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:5545000-5547400	Strong transcription	Fetal Stomach	stomach
27	chr7:5545200-5548200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:5545200-5548200	Weak transcription	Adipose Nuclei	Adipose
29	chr7:5545200-5548200	Weak transcription	HMEC	breast
30	chr7:5545200-5548400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:5545200-5548400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:5545200-5548400	Weak transcription	K562	blood
33	chr7:5545200-5548600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:5545200-5549400	Weak transcription	Placenta	Placenta
35	chr7:5545200-5549400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:5545200-5549400	Weak transcription	HSMM	muscle
37	chr7:5545200-5552000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:5545200-5552000	Weak transcription	Aorta	Aorta
39	chr7:5545200-5552000	Weak transcription	Fetal Intestine Large	intestine
40	chr7:5545200-5552000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:5545200-5552000	Weak transcription	Fetal Thymus	thymus
42	chr7:5545200-5552000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:5545200-5552200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:5545200-5552200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:5545200-5552200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:5545200-5552200	Weak transcription	Esophagus	oesophagus
47	chr7:5545200-5552200	Weak transcription	Fetal Brain Female	brain
48	chr7:5545200-5552200	Weak transcription	Pancreas	Pancrea
49	chr7:5545200-5552200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:5545400-5548400	Weak transcription	NH-A	brain

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