Variant report

Variant	rs73471913
Chromosome Location	chr7:129559563-129559564
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129553929..129555431-chr7:129558253..129560539,2	MCF-7	breast:
2	chr7:129557764..129560612-chr7:129608880..129612426,3	K562	blood:
3	chr7:129559119..129562737-chr7:129563005..129568178,5	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs57085267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57351931	1.00[AMR][1000 genomes]
rs57534840	1.00[AMR][1000 genomes]
rs58432106	1.00[AMR][1000 genomes]
rs59326616	1.00[AMR][1000 genomes]
rs60013811	1.00[AMR][1000 genomes]
rs61192856	1.00[AMR][1000 genomes]
rs6960765	1.00[AMR][1000 genomes]
rs73469704	0.83[AFR][1000 genomes]
rs73469778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469787	1.00[AMR][1000 genomes]
rs73469788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469790	1.00[AMR][1000 genomes]
rs73469802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471916	1.00[AMR][1000 genomes]
rs73471922	1.00[AMR][1000 genomes]
rs73471986	1.00[AMR][1000 genomes]
rs73471988	1.00[AMR][1000 genomes]
rs73471991	1.00[AMR][1000 genomes]
rs73471994	1.00[AMR][1000 genomes]
rs73471997	1.00[AMR][1000 genomes]
rs73472001	1.00[AMR][1000 genomes]
rs73487552	0.83[AFR][1000 genomes]
rs7808364	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
2	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:129547000-129563600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:129547400-129563600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:129548400-129562600	Weak transcription	Hela-S3	cervix
8	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:129549400-129580200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:129549800-129572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:129549800-129577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:129550400-129560800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:129552400-129564600	Weak transcription	HMEC	breast
15	chr7:129552800-129563600	Weak transcription	A549	lung
16	chr7:129553000-129559600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:129553200-129560000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:129553200-129570000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:129553400-129559800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:129553400-129560000	Enhancers	Fetal Heart	heart
21	chr7:129554000-129573800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:129555000-129560200	Weak transcription	Osteobl	bone
23	chr7:129555000-129562600	Weak transcription	Fetal Intestine Large	intestine
24	chr7:129555200-129563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:129555200-129587000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:129555400-129563800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:129555600-129562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:129555600-129563200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:129555600-129563200	Weak transcription	Stomach Mucosa	stomach
30	chr7:129555600-129563600	Weak transcription	HSMM	muscle
31	chr7:129555600-129564600	Weak transcription	K562	blood
32	chr7:129555800-129559600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:129555800-129563400	Weak transcription	Small Intestine	intestine
34	chr7:129555800-129563600	Weak transcription	Placenta	Placenta
35	chr7:129556200-129559600	Enhancers	Psoas Muscle	Psoas
36	chr7:129556400-129562400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:129556400-129563600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:129556400-129563600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:129556600-129563200	Weak transcription	NH-A	brain
40	chr7:129556600-129563200	Weak transcription	NHDF-Ad	bronchial
41	chr7:129556600-129563400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:129556600-129563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:129556600-129563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:129556600-129565200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:129556600-129572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:129556600-129579000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:129557400-129559600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:129557400-129566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:129557400-129587000	Weak transcription	Fetal Lung	lung

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