Variant report

Variant	rs72751535
Chromosome Location	chr9:100338278-100338279
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	chr9:100315064..100317144-chr9:100338038..100339669,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10114427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10120837	0.82[EUR][1000 genomes]
rs10982895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12345701	0.97[EUR][1000 genomes]
rs12346614	0.86[EUR][1000 genomes]
rs12349752	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12349848	0.97[EUR][1000 genomes]
rs12353111	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16922319	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28368170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66475733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751529	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751532	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72751538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9777684	0.90[AFR][1000 genomes];0.97[EUR][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	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
3	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
4	chr9:100333400-100338400	Strong transcription	Ovary	ovary
5	chr9:100333400-100340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:100333600-100339400	Weak transcription	Pancreas	Pancrea
7	chr9:100333600-100341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:100333600-100361800	Weak transcription	Gastric	stomach
9	chr9:100334200-100340800	Weak transcription	Psoas Muscle	Psoas
10	chr9:100334200-100356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:100334400-100338600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr9:100334400-100356000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:100334400-100356400	Weak transcription	HSMMtube	muscle
14	chr9:100334600-100339400	Weak transcription	Lung	lung
15	chr9:100334600-100353600	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:100334800-100338600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:100334800-100355600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:100335000-100341800	Weak transcription	Fetal Heart	heart
19	chr9:100335400-100338400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:100335400-100341000	Weak transcription	Right Ventricle	heart
21	chr9:100335600-100338600	Weak transcription	Liver	Liver
22	chr9:100335600-100356600	Weak transcription	Brain Angular Gyrus	brain
23	chr9:100336200-100340200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:100336200-100349200	Weak transcription	K562	blood
25	chr9:100336200-100356200	Weak transcription	Aorta	Aorta
26	chr9:100336200-100360000	Weak transcription	Brain Substantia Nigra	brain
27	chr9:100337000-100338600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr9:100337200-100338400	Strong transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:100337600-100338400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr9:100337600-100338400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr9:100337800-100338600	Strong transcription	Fetal Muscle Leg	muscle
32	chr9:100337800-100341400	Weak transcription	Fetal Brain Female	brain
33	chr9:100338000-100338400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:100338000-100338400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr9:100338000-100338400	Genic enhancers	Brain Anterior Caudate	brain
36	chr9:100338000-100338600	Enhancers	Primary B cells from cord blood	blood
37	chr9:100338000-100338600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:100338000-100339200	Weak transcription	Adipose Nuclei	Adipose
39	chr9:100338200-100338400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr9:100338200-100338400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr9:100338200-100338400	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr9:100338200-100338400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:100338200-100338400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:100338200-100338400	Enhancers	GM12878-XiMat	blood
45	chr9:100338200-100338600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:100338200-100338600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:100338200-100338600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:100338200-100338600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:100338200-100338800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr9:100338200-100340800	Weak transcription	Brain Hippocampus Middle	brain

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