Variant report

Variant	rs10114717
Chromosome Location	chr9:86281745-86281746
allele	A/G
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	CTCF	chr9:86281680-86281830	AG04449	skin:	n/a	n/a
2	POLR2A	chr9:86281569-86282549	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:86281364-86281804	K562	blood:	n/a	n/a
4	STAT3	chr9:86281581-86281816	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
UBQLN1	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10115073	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10116424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121045	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121882	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122131	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122134	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123002	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125987	0.85[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481738	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140184	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140193	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140196	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140201	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140213	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335711	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340935	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342901	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344615	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345514	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351677	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13284999	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13289229	1.00[ASN][1000 genomes]
rs13291631	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13292088	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13294533	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13301956	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780983	1.00[ASN][1000 genomes]
rs2780987	1.00[ASN][1000 genomes]
rs2780988	1.00[ASN][1000 genomes]
rs2780989	1.00[ASN][1000 genomes]
rs2811898	1.00[ASN][1000 genomes]
rs28555298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3447	1.00[ASN][1000 genomes]
rs34778713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34891935	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35378833	1.00[ASN][1000 genomes]
rs35535452	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364707	1.00[ASN][1000 genomes]
rs7045761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314722	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944947	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	chr9:86264800-86281800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:86264800-86294600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:86264800-86295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:86264800-86298200	Strong transcription	Dnd41	blood
12	chr9:86264800-86300200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:86265000-86282000	Strong transcription	Placenta	Placenta
14	chr9:86265000-86284400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:86265000-86295200	Strong transcription	HSMM	muscle
16	chr9:86265000-86296800	Strong transcription	Liver	Liver
17	chr9:86265000-86298800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:86265400-86285800	Weak transcription	Gastric	stomach
19	chr9:86266000-86283600	Strong transcription	NHDF-Ad	bronchial
20	chr9:86266200-86296000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:86266400-86281800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:86266400-86298800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr9:86267000-86282200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:86267000-86292000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr9:86267000-86293800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr9:86267400-86296800	Strong transcription	A549	lung
27	chr9:86267400-86297800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:86267600-86282000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr9:86267600-86296800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr9:86267800-86295400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:86268000-86282000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:86268000-86295400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:86268000-86298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:86268200-86294800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr9:86268400-86284000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:86269000-86294200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:86269200-86289000	Strong transcription	Osteobl	bone
38	chr9:86269200-86297800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:86269400-86298600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:86270400-86295400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:86270800-86281800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr9:86270800-86298000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:86271200-86298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:86271600-86282000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:86272800-86294000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:86273400-86286200	Strong transcription	HepG2	liver
47	chr9:86273600-86298600	Weak transcription	Stomach Mucosa	stomach
48	chr9:86273600-86299000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:86273800-86304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:86274200-86287200	Weak transcription	Fetal Brain Male	brain

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