Variant report

Variant	rs72699024
Chromosome Location	chr9:3269832-3269833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:3218527..3221399-chr9:3268473..3270542,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72699016	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72699049	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892086	chr9:3012276-3410838	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1032921	chr9:3139007-3502815	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539940	chr9:3139007-3502815	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv466090	chr9:3237378-3349487	Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv613145	chr9:3237378-3349487	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1032529	chr9:3254763-3319778	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv539941	chr9:3254763-3319778	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3220400-3287400	Weak transcription	Psoas Muscle	Psoas
2	chr9:3223200-3277000	Weak transcription	HSMMtube	muscle
3	chr9:3223400-3270200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:3223600-3271600	Weak transcription	Lung	lung
5	chr9:3223600-3284800	Weak transcription	Spleen	Spleen
6	chr9:3224000-3275800	Weak transcription	Gastric	stomach
7	chr9:3226600-3289600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:3233600-3292600	Weak transcription	Pancreas	Pancrea
9	chr9:3234800-3294400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:3236200-3271600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:3238000-3276800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:3241400-3278000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr9:3241600-3276800	Weak transcription	Placenta	Placenta
14	chr9:3241800-3271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:3242000-3278000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:3242200-3287800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:3243800-3279200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:3244200-3338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:3245000-3275000	Weak transcription	HSMM	muscle
20	chr9:3245600-3277200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:3246800-3287000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:3250200-3276400	Weak transcription	HepG2	liver
23	chr9:3251600-3292600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:3252800-3278600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:3254200-3285600	Weak transcription	Fetal Heart	heart
26	chr9:3254800-3272000	Weak transcription	NH-A	brain
27	chr9:3255000-3293000	Weak transcription	Small Intestine	intestine
28	chr9:3255800-3292800	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:3256800-3293400	Weak transcription	Right Ventricle	heart
30	chr9:3257000-3289000	Weak transcription	Fetal Brain Male	brain
31	chr9:3257200-3270200	Weak transcription	Thymus	Thymus
32	chr9:3257200-3274200	Weak transcription	Fetal Brain Female	brain
33	chr9:3257200-3275000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr9:3257200-3290200	Weak transcription	Brain Germinal Matrix	brain
35	chr9:3257200-3290200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:3257200-3290200	Weak transcription	Brain Substantia Nigra	brain
37	chr9:3257200-3294000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:3257200-3294400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:3257400-3270400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:3257400-3279000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:3257400-3289000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:3257800-3285800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:3258000-3277400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr9:3260000-3276200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:3261400-3272600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:3261400-3281400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:3262200-3270200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:3263000-3276200	Weak transcription	Fetal Kidney	kidney
49	chr9:3263000-3286800	Weak transcription	Liver	Liver
50	chr9:3263200-3275000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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