Variant report

Variant	rs28422022
Chromosome Location	chr7:11048390-11048391
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	chr7:10978536..10980200-chr7:11047753..11049829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189043	Chromatin interaction
ENSG00000271185	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10227195	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10231114	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10240831	0.94[EUR][1000 genomes]
rs10253375	0.94[EUR][1000 genomes]
rs10256300	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10263193	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10263323	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10263654	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10267002	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10267293	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1026903	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10269354	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10277845	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10279863	0.87[EUR][1000 genomes]
rs12112182	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16876763	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17163856	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17163867	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17163917	0.95[EUR][1000 genomes]
rs2110377	0.92[EUR][1000 genomes]
rs2160059	0.95[EUR][1000 genomes]
rs2353338	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2353343	0.92[EUR][1000 genomes]
rs28378773	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28542277	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28682560	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6943167	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6954256	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6955020	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6965290	0.92[EUR][1000 genomes]
rs6971841	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972430	0.92[EUR][1000 genomes]
rs6974192	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6974846	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6975914	0.81[EUR][1000 genomes]
rs6976070	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs721028	0.94[EUR][1000 genomes]
rs7789137	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7795849	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7810016	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv606194	chr7:11042905-11144078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
2	chr7:11014800-11054200	Weak transcription	NHLF	lung
3	chr7:11014800-11075200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
5	chr7:11015000-11064000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:11016800-11057200	Weak transcription	Fetal Brain Male	brain
8	chr7:11017200-11076000	Weak transcription	HUVEC	blood vessel
9	chr7:11018600-11063800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:11022800-11071000	Weak transcription	Right Ventricle	heart
11	chr7:11023000-11053600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:11023200-11076200	Weak transcription	NH-A	brain
13	chr7:11023600-11053600	Weak transcription	Fetal Kidney	kidney
14	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:11033200-11053600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:11033400-11053600	Weak transcription	HSMM	muscle
17	chr7:11033800-11053600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:11034400-11053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:11034800-11064200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:11035200-11053600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:11035400-11054200	Weak transcription	Pancreas	Pancrea
22	chr7:11035400-11064000	Weak transcription	Brain Germinal Matrix	brain
23	chr7:11035800-11053400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:11035800-11053400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:11035800-11053600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:11035800-11054000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:11035800-11054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:11035800-11057200	Weak transcription	Spleen	Spleen
29	chr7:11035800-11063000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:11035800-11063800	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:11035800-11076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:11035800-11092600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:11035800-11113000	Weak transcription	Esophagus	oesophagus
34	chr7:11035800-11113200	Weak transcription	Lung	lung
35	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:11036000-11053600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:11036000-11101600	Weak transcription	Placenta	Placenta
38	chr7:11036200-11053400	Weak transcription	Fetal Intestine Large	intestine
39	chr7:11036200-11053600	Weak transcription	Adipose Nuclei	Adipose
40	chr7:11036600-11063600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:11036600-11100800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:11036800-11053400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:11036800-11053600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:11036800-11053600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:11037000-11053400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:11037400-11053400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:11037400-11055000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:11038800-11053400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:11038800-11054000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:11038800-11063800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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