Variant report

Variant	rs10780923
Chromosome Location	chr9:72878824-72878825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72877983..72879807-chr9:72885567..72887477,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10119662	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1052684	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10868720	0.80[EUR][1000 genomes]
rs10868752	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10868757	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10868775	0.84[EUR][1000 genomes]
rs10868799	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11142350	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1536956	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927099	0.81[EUR][1000 genomes]
rs1927102	0.81[EUR][1000 genomes]
rs1927128	0.81[ASN][1000 genomes]
rs1927139	0.81[ASN][1000 genomes]
rs2026136	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2182736	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2182739	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2210086	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2309611	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2309612	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309633	0.81[ASN][1000 genomes]
rs2309642	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2309647	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3847321	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3858107	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375070	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4744990	0.81[ASN][1000 genomes]
rs6560019	0.81[ASN][1000 genomes]
rs6560127	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7021420	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7027209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7043043	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7469211	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7866915	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9650766	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72874800-72879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:72875000-72879200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:72875000-72879400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:72875200-72901400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:72875400-72879200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:72875400-72879400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:72875400-72906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:72875600-72879200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:72875800-72879200	Weak transcription	Fetal Kidney	kidney
11	chr9:72875800-72884200	Weak transcription	Lung	lung
12	chr9:72876000-72879800	Weak transcription	Left Ventricle	heart
13	chr9:72876000-72882400	Weak transcription	Fetal Intestine Small	intestine
14	chr9:72876000-72882400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr9:72876000-72883200	Strong transcription	Placenta	Placenta
16	chr9:72876000-72887600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:72876000-72898200	Weak transcription	Fetal Brain Male	brain
18	chr9:72876000-72906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72876200-72879200	Weak transcription	Adipose Nuclei	Adipose
20	chr9:72876200-72880200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr9:72876400-72879000	Weak transcription	Right Atrium	heart
22	chr9:72876400-72879200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:72876400-72879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:72876400-72879400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:72876400-72879600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:72876400-72879800	Weak transcription	Pancreas	Pancrea
27	chr9:72876400-72880400	Strong transcription	Fetal Intestine Large	intestine
28	chr9:72876400-72884200	Weak transcription	Esophagus	oesophagus
29	chr9:72876400-72884200	Weak transcription	Fetal Stomach	stomach
30	chr9:72876400-72886200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:72876400-72886600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr9:72876400-72889200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:72876400-72916800	Weak transcription	Colonic Mucosa	Colon
34	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
35	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
37	chr9:72876600-72879400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:72876600-72879400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr9:72876600-72885800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:72876600-72888200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr9:72876800-72879200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:72876800-72900200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:72877000-72879000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:72877000-72879200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr9:72877000-72886000	Strong transcription	Fetal Thymus	thymus
46	chr9:72877000-72895400	Weak transcription	Right Ventricle	heart
47	chr9:72877000-72904800	Weak transcription	Brain Germinal Matrix	brain
48	chr9:72877000-72939800	Weak transcription	Gastric	stomach
49	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:72877200-72879200	Weak transcription	Primary B cells from peripheral blood	blood

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