Variant report

Variant	rs10988731
Chromosome Location	chr9:101911201-101911202
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	chr9:101907167..101909352-chr9:101910696..101913205,3	K562	blood:
2	chr9:101910109..101913329-chr9:101915349..101919610,4	K562	blood:

Variant related genes	Relation type
ENSG00000252942	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10988712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10988724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11466457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918338	1.00[AMR][1000 genomes]
rs9282874	1.00[AFR][1000 genomes];1.00[AMR][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	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101890000-101914200	Weak transcription	Pancreas	Pancrea
2	chr9:101892600-101914200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:101892800-101921000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:101895000-101914200	Weak transcription	Esophagus	oesophagus
5	chr9:101897600-101913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:101897600-101915400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:101898000-101912200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:101898000-101919400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:101899000-101913000	Strong transcription	HSMM	muscle
10	chr9:101899400-101913000	Weak transcription	Thymus	Thymus
11	chr9:101900200-101914800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr9:101900200-101915200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:101900800-101916800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr9:101901800-101912000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:101902800-101914200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:101902800-101915400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr9:101903000-101911800	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:101903000-101915200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:101903000-101921800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr9:101903200-101912000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:101903200-101912000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:101903200-101912600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:101903200-101913200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr9:101903200-101915000	Strong transcription	Osteobl	bone
25	chr9:101903400-101911400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:101903400-101911400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:101903400-101914200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:101903400-101915400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:101903600-101911400	Strong transcription	Dnd41	blood
30	chr9:101903600-101912200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:101903600-101915000	Strong transcription	HSMMtube	muscle
32	chr9:101903600-101915200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:101903800-101911400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:101903800-101911600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:101903800-101912000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr9:101903800-101913000	Strong transcription	Adipose Nuclei	Adipose
37	chr9:101904000-101911800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:101904000-101911800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr9:101904000-101912200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:101904000-101912200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr9:101904000-101912400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:101904000-101913400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:101904000-101915800	Strong transcription	Placenta	Placenta
44	chr9:101904000-101916400	Strong transcription	Primary B cells from cord blood	blood
45	chr9:101904000-101917200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:101904200-101911400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr9:101904200-101911600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:101904200-101912200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:101904200-101913200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:101904200-101914800	Strong transcription	Liver	Liver

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