Variant report

Variant	rs73469802
Chromosome Location	chr7:129547171-129547172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129537252..129539888-chr7:129546780..129548970,2	K562	blood:
2	chr7:129537252..129539282-chr7:129546661..129548280,2	K562	blood:
3	chr7:129542390..129544026-chr7:129545338..129548140,2	MCF-7	breast:
4	chr7:129544543..129549195-chr7:129554830..129557453,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRF1-2	chr7:129546220-129548631	NONHSAT123319

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]
rs73471913	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
3	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
6	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:129531600-129548400	Weak transcription	Fetal Brain Female	brain
14	chr7:129536200-129548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
16	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:129539600-129554800	Weak transcription	Dnd41	blood
18	chr7:129541000-129547400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:129541000-129552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:129541200-129548000	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr7:129541400-129547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:129541400-129547200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:129541400-129548600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:129541400-129551800	Weak transcription	NHLF	lung
25	chr7:129541600-129547800	Weak transcription	HMEC	breast
26	chr7:129541600-129548400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:129541800-129559200	Weak transcription	Esophagus	oesophagus
28	chr7:129542400-129547200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:129543000-129548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:129543000-129549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:129543000-129553600	Weak transcription	Gastric	stomach
32	chr7:129543600-129547400	Enhancers	Spleen	Spleen
33	chr7:129544000-129547200	Weak transcription	Aorta	Aorta
34	chr7:129544000-129547200	Weak transcription	K562	blood
35	chr7:129544000-129548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:129544000-129548200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:129544400-129549200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:129544600-129547400	Genic enhancers	Primary B cells from cord blood	blood
39	chr7:129544600-129551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:129544800-129547200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:129544800-129547200	Weak transcription	Left Ventricle	heart
42	chr7:129544800-129547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:129544800-129547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:129544800-129548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:129544800-129549000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:129544800-129549000	Weak transcription	Fetal Stomach	stomach
47	chr7:129544800-129559400	Weak transcription	Lung	lung
48	chr7:129545400-129547200	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:129545400-129547400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:129545400-129548400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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