Variant report

Variant	rs73854767
Chromosome Location	chr3:119754400-119754401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119748542..119750844-chr3:119754043..119755748,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55695126	1.00[AMR][1000 genomes]
rs55954491	1.00[AMR][1000 genomes]
rs56198526	1.00[AMR][1000 genomes]
rs58540702	1.00[AMR][1000 genomes]
rs6771503	1.00[AMR][1000 genomes]
rs6804704	1.00[AMR][1000 genomes]
rs73854728	1.00[AMR][1000 genomes]
rs73854729	1.00[AMR][1000 genomes]
rs73854739	1.00[AMR][1000 genomes]
rs73854744	1.00[AMR][1000 genomes]
rs73854747	1.00[AMR][1000 genomes]
rs73854749	1.00[AMR][1000 genomes]
rs73854751	1.00[AMR][1000 genomes]
rs73854753	1.00[AMR][1000 genomes]
rs73854755	1.00[AMR][1000 genomes]
rs73854757	1.00[AMR][1000 genomes]
rs73854762	1.00[AMR][1000 genomes]
rs73854765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7626888	1.00[AFR][1000 genomes];1.00[AMR][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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:119737800-119757200	Weak transcription	A549	lung
3	chr3:119739400-119756000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:119740000-119758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:119741000-119758000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:119741200-119758400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:119742000-119754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:119742000-119758000	Weak transcription	NHDF-Ad	bronchial
9	chr3:119742600-119757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:119744200-119758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:119744400-119758400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:119744800-119758000	Weak transcription	NHEK	skin
13	chr3:119745000-119757000	Weak transcription	Dnd41	blood
14	chr3:119745200-119758400	Weak transcription	HepG2	liver
15	chr3:119745400-119758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:119747400-119756200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:119747600-119758400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:119747800-119757000	Weak transcription	Lung	lung
19	chr3:119747800-119757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:119747800-119757200	Weak transcription	Ovary	ovary
21	chr3:119747800-119758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:119748000-119758000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:119748400-119756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:119748600-119755800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:119748800-119754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:119748800-119756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:119748800-119757800	Weak transcription	Right Ventricle	heart
28	chr3:119749000-119758400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:119749400-119755200	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:119749600-119758000	Weak transcription	HSMM	muscle
31	chr3:119750200-119757000	Weak transcription	Esophagus	oesophagus
32	chr3:119750400-119754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:119750400-119758400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:119750600-119755200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:119750600-119757800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:119750600-119758000	Weak transcription	Fetal Lung	lung
37	chr3:119751800-119766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:119752200-119757200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:119753200-119757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:119753400-119754800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:119753400-119755000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:119753400-119758200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:119753600-119754600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:119753600-119754600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:119753800-119754800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:119754000-119757000	Weak transcription	Left Ventricle	heart
47	chr3:119754200-119755000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:119754200-119757000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:119754200-119757000	Weak transcription	Psoas Muscle	Psoas
50	chr3:119754200-119758400	Weak transcription	Thymus	Thymus

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