Variant report

Variant	rs10228089
Chromosome Location	chr7:80546976-80546977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80446232..80448105-chr7:80546951..80549936,2	MCF-7	breast:
2	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:
3	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
4	chr7:80546955..80550718-chr7:80817331..80823169,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226671	Chromatin interaction
ENSG00000237896	Chromatin interaction
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10215069	1.00[EUR][1000 genomes]
rs10215246	1.00[EUR][1000 genomes]
rs10215337	1.00[EUR][1000 genomes]
rs10215451	1.00[EUR][1000 genomes]
rs10215608	1.00[EUR][1000 genomes]
rs10215716	1.00[EUR][1000 genomes]
rs10215723	1.00[EUR][1000 genomes]
rs10215938	1.00[EUR][1000 genomes]
rs10216033	1.00[EUR][1000 genomes]
rs10224258	1.00[EUR][1000 genomes]
rs10245065	1.00[EUR][1000 genomes]
rs10250413	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs10251242	1.00[EUR][1000 genomes]
rs10252612	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10260738	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10261021	1.00[EUR][1000 genomes]
rs13437783	1.00[EUR][1000 genomes]
rs13437839	1.00[EUR][1000 genomes]
rs28376330	1.00[EUR][1000 genomes]
rs28635331	1.00[EUR][1000 genomes]
rs56055586	1.00[EUR][1000 genomes]
rs57516492	1.00[EUR][1000 genomes]
rs58297146	1.00[EUR][1000 genomes]
rs58739233	1.00[EUR][1000 genomes]
rs59251587	1.00[EUR][1000 genomes]
rs60720818	1.00[EUR][1000 genomes]
rs60847825	1.00[EUR][1000 genomes]
rs61124178	1.00[EUR][1000 genomes]
rs73378531	1.00[EUR][1000 genomes]
rs73378533	1.00[EUR][1000 genomes]
rs73378553	1.00[EUR][1000 genomes]
rs73378561	1.00[EUR][1000 genomes]
rs73378563	1.00[EUR][1000 genomes]
rs73378567	1.00[EUR][1000 genomes]
rs73709387	1.00[EUR][1000 genomes]
rs73709388	1.00[EUR][1000 genomes]
rs9655877	1.00[EUR][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80525600-80547600	Weak transcription	Gastric	stomach
2	chr7:80526400-80547800	Weak transcription	Lung	lung
3	chr7:80530000-80547400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:80542200-80548000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:80542800-80547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:80544600-80548000	Active TSS	Fetal Brain Female	brain
7	chr7:80545000-80548000	Transcr. at gene 5' and 3'	A549	lung
8	chr7:80545200-80547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:80545400-80549000	Active TSS	HSMMtube	muscle
10	chr7:80545400-80549600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:80545400-80549600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:80545600-80549000	Active TSS	Fetal Brain Male	brain
13	chr7:80545600-80549000	Active TSS	NHLF	lung
14	chr7:80545800-80547000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:80545800-80549000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:80545800-80549000	Active TSS	Fetal Muscle Trunk	muscle
17	chr7:80545800-80549000	Active TSS	Fetal Muscle Leg	muscle
18	chr7:80545800-80549200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:80545800-80549200	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:80546000-80547400	Active TSS	Fetal Lung	lung
21	chr7:80546000-80549000	Active TSS	Fetal Stomach	stomach
22	chr7:80546000-80549200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:80546000-80549400	Active TSS	Right Atrium	heart
24	chr7:80546000-80549600	Active TSS	Fetal Intestine Large	intestine
25	chr7:80546200-80547200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:80546200-80547400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:80546200-80547800	Active TSS	Adipose Nuclei	Adipose
28	chr7:80546200-80549000	Active TSS	Right Ventricle	heart
29	chr7:80546200-80549200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:80546200-80549400	Active TSS	HSMM	muscle
31	chr7:80546400-80547000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:80546400-80547000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:80546400-80547200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:80546400-80547400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:80546400-80547400	Enhancers	Brain Germinal Matrix	brain
36	chr7:80546400-80547400	Enhancers	Hela-S3	cervix
37	chr7:80546400-80547800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:80546400-80548000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:80546400-80548800	Active TSS	NH-A	brain
40	chr7:80546400-80549000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:80546400-80549000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:80546400-80549000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:80546400-80549000	Active TSS	Left Ventricle	heart
44	chr7:80546400-80549000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr7:80546400-80549200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:80546400-80549200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:80546400-80549200	Active TSS	Colon Smooth Muscle	Colon
48	chr7:80546400-80549400	Active TSS	Psoas Muscle	Psoas
49	chr7:80546400-80549600	Active TSS	Brain Substantia Nigra	brain
50	chr7:80546600-80547000	Enhancers	Brain Cingulate Gyrus	brain

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