Variant report

Variant	rs72969159
Chromosome Location	chr3:119739418-119739419
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57147159	1.00[AMR][1000 genomes]
rs72952818	1.00[AMR][1000 genomes]
rs72952850	1.00[AMR][1000 genomes]
rs72952852	1.00[AMR][1000 genomes]
rs72952863	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952877	1.00[AMR][1000 genomes]
rs72952884	1.00[AMR][1000 genomes]
rs72954705	1.00[AMR][1000 genomes]
rs72954727	1.00[AMR][1000 genomes]
rs72954733	1.00[AMR][1000 genomes]
rs72954750	1.00[AMR][1000 genomes]
rs72967200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971057	0.84[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119712600-119745000	Weak transcription	Hela-S3	cervix
2	chr3:119713200-119744400	Weak transcription	Fetal Kidney	kidney
3	chr3:119720200-119741000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:119723600-119740600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:119724000-119741400	Weak transcription	Thymus	Thymus
6	chr3:119730000-119743000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:119730000-119743000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:119730600-119740800	Weak transcription	Left Ventricle	heart
9	chr3:119730600-119741600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:119731000-119741400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:119731400-119752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:119731800-119739800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:119732200-119747200	Weak transcription	Gastric	stomach
14	chr3:119732200-119747600	Weak transcription	Right Ventricle	heart
15	chr3:119732600-119740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:119732600-119741600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:119732600-119748400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:119732600-119748600	Weak transcription	HSMM	muscle
19	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:119732800-119746200	Weak transcription	Fetal Lung	lung
21	chr3:119732800-119749200	Weak transcription	Fetal Stomach	stomach
22	chr3:119733000-119747400	Weak transcription	Right Atrium	heart
23	chr3:119733200-119744200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:119733400-119741600	Weak transcription	Osteobl	bone
25	chr3:119734000-119740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:119734200-119741000	Weak transcription	Primary T cells from cord blood	blood
27	chr3:119734800-119750000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:119735000-119751600	Weak transcription	Primary B cells from cord blood	blood
29	chr3:119735200-119741000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:119735200-119742800	Weak transcription	Fetal Brain Female	brain
31	chr3:119735800-119744400	Weak transcription	HMEC	breast
32	chr3:119736000-119746400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr3:119736600-119744000	Weak transcription	Fetal Intestine Small	intestine
34	chr3:119737000-119741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:119737000-119749400	Weak transcription	Stomach Mucosa	stomach
36	chr3:119737000-119751800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr3:119737200-119740200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:119737200-119740400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:119737400-119739800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:119737400-119739800	Weak transcription	Lung	lung
41	chr3:119737400-119739800	Weak transcription	Psoas Muscle	Psoas
42	chr3:119737400-119741600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:119737400-119741600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:119737400-119744600	Weak transcription	HepG2	liver
45	chr3:119737400-119751800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:119737400-119754000	Weak transcription	Small Intestine	intestine
47	chr3:119737600-119743000	Weak transcription	Spleen	Spleen
48	chr3:119737800-119740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:119737800-119740800	Weak transcription	NHDF-Ad	bronchial
50	chr3:119737800-119757200	Weak transcription	A549	lung

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