Variant report

Variant	rs73175873
Chromosome Location	chr3:119701503-119701504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1054190	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11914561	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11915898	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11916594	0.93[EUR][1000 genomes]
rs11919783	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11923782	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11923854	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11927667	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1381841	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17204605	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17205095	0.93[EUR][1000 genomes]
rs17810302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55644728	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55658250	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55910624	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56114552	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6765004	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68194015	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175828	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175830	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73175844	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175849	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175853	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175858	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175860	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175862	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175863	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175877	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175879	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73175880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73175886	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73175888	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73175891	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73175897	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73177904	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73177905	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73177907	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7645180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv3445191	chr3:119697110-119709166	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:119664600-119702400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr3:119665800-119716800	Weak transcription	HSMM	muscle
5	chr3:119666000-119703000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:119681200-119723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:119683600-119701800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:119687200-119716600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:119689000-119710600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:119689000-119711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:119689000-119722600	Weak transcription	Gastric	stomach
12	chr3:119689800-119701600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:119692400-119717000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:119692400-119723200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:119693600-119732200	Weak transcription	A549	lung
16	chr3:119696400-119703400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:119696400-119708800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:119696400-119709200	Weak transcription	HMEC	breast
19	chr3:119696800-119703400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:119697000-119704600	Weak transcription	NHEK	skin
21	chr3:119697200-119702800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:119698000-119703400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:119698400-119701600	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:119698400-119703800	Weak transcription	GM12878-XiMat	blood
25	chr3:119698400-119707400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:119698400-119709400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:119698800-119708400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:119699200-119704000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:119699600-119703800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:119700200-119701600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:119700400-119701800	Strong transcription	Primary B cells from cord blood	blood
32	chr3:119700400-119701800	Strong transcription	Fetal Thymus	thymus
33	chr3:119700600-119701600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr3:119700600-119702200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:119700600-119706000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:119700600-119722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:119700800-119706000	Weak transcription	Spleen	Spleen
38	chr3:119700800-119707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:119700800-119717000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:119701000-119703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:119701000-119705800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:119701000-119720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:119701000-119722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:119701200-119702400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:119701400-119702200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:119701400-119703400	Weak transcription	Primary T cells from cord blood	blood
47	chr3:119701400-119703800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:119701400-119706000	Weak transcription	Thymus	Thymus
49	chr3:119701400-119712400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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