Variant report

Variant	rs2542775
Chromosome Location	chr9:86282648-86282649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr9:86282547-86282756	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86237387..86239482-chr9:86281973..86284145,2	K562	blood:
2	chr9:86282376..86284181-chr9:86315940..86318221,2	K562	blood:

Variant related genes	Relation type
UBQLN1	TF binding region
ENSG00000148057	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10115799	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10119344	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10125432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1035274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1044175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746718	0.89[ASN][1000 genomes]
rs10746719	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10746720	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10746721	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10780621	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868036	0.83[ASN][1000 genomes]
rs10868040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10868044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10868045	0.89[ASN][1000 genomes]
rs1333863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1333865	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1360685	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961952	0.81[EUR][1000 genomes]
rs1968216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2042042	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2058912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2542776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2542803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2780995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2780997	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780998	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781000	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2781001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781003	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811919	0.95[ASN][1000 genomes]
rs2811922	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811923	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811924	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2811925	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811926	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811927	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811928	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4146741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4242623	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4877263	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4877798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6559737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6559739	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7023082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7039019	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7469301	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7850944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7865296	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7874980	0.89[ASN][1000 genomes]
rs944946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs961807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr9:86244800-86285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:86252800-86294000	Weak transcription	Small Intestine	intestine
3	chr9:86260600-86300400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:86263400-86298800	Strong transcription	Fetal Thymus	thymus
5	chr9:86264600-86284200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:86264600-86284400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:86264600-86297000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr9:86264800-86294600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:86264800-86295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:86264800-86298200	Strong transcription	Dnd41	blood
11	chr9:86264800-86300200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:86265000-86284400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:86265000-86295200	Strong transcription	HSMM	muscle
14	chr9:86265000-86296800	Strong transcription	Liver	Liver
15	chr9:86265000-86298800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:86265400-86285800	Weak transcription	Gastric	stomach
17	chr9:86266000-86283600	Strong transcription	NHDF-Ad	bronchial
18	chr9:86266200-86296000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:86266400-86298800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr9:86267000-86292000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:86267000-86293800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr9:86267400-86296800	Strong transcription	A549	lung
23	chr9:86267400-86297800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:86267600-86296800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr9:86267800-86295400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:86268000-86295400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:86268000-86298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:86268200-86294800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:86268400-86284000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:86269000-86294200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:86269200-86289000	Strong transcription	Osteobl	bone
32	chr9:86269200-86297800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:86269400-86298600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:86270400-86295400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:86270800-86298000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr9:86271200-86298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:86272800-86294000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:86273400-86286200	Strong transcription	HepG2	liver
39	chr9:86273600-86298600	Weak transcription	Stomach Mucosa	stomach
40	chr9:86273600-86299000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:86273800-86304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:86274200-86287200	Weak transcription	Fetal Brain Male	brain
43	chr9:86274800-86288600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:86275200-86285800	Weak transcription	Psoas Muscle	Psoas
45	chr9:86275400-86285800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:86276200-86295400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:86277400-86285600	Weak transcription	Brain Angular Gyrus	brain
48	chr9:86278400-86283200	Strong transcription	Hela-S3	cervix
49	chr9:86278800-86290400	Weak transcription	Fetal Heart	heart
50	chr9:86279000-86283400	Weak transcription	Brain Inferior Temporal Lobe	brain

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