Variant report

Variant	rs10992248
Chromosome Location	chr9:94897051-94897052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94896262..94897893-chr9:95004270..95006052,2	K562	blood:
2	chr1:202153829..202154405-chr9:94896628..94897556,2	MCF-7	breast:
3	chr9:94877231..94877871-chr9:94896353..94897283,2	MCF-7	breast:
4	chr1:202153463..202154431-chr9:94896000..94897129,6	MCF-7	breast:
5	chr9:94896533..94899071-chr9:94912382..94914127,2	MCF-7	breast:
6	chr9:94894716..94897374-chr9:94969241..94971639,2	K562	blood:
7	chr9:94895102..94897917-chr9:95001636..95003511,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPP-9	chr9:94897025-94897245	NONHSAT133157

No data

Variant related genes	Relation type
ENSG00000090054	Chromatin interaction
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10992235	0.85[AMR][1000 genomes]
rs10992236	0.85[AMR][1000 genomes]
rs10992242	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10992246	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12683519	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076912	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59232045	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94895000-94900200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94896000-94897200	Enhancers	Ovary	ovary
3	chr9:94896000-94898000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94896200-94897600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:94896400-94902400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:94896600-94898000	Weak transcription	K562	blood
7	chr9:94896600-94899800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr9:94896600-94902400	Weak transcription	Spleen	Spleen
9	chr9:94896600-94902800	Weak transcription	Gastric	stomach
10	chr9:94896800-94897200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:94896800-94897200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:94896800-94897200	Active TSS	HepG2	liver
13	chr9:94896800-94897200	Enhancers	HSMM	muscle
14	chr9:94896800-94897200	Enhancers	HUVEC	blood vessel
15	chr9:94896800-94897200	Enhancers	NHLF	lung
16	chr9:94896800-94897400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:94896800-94897400	Enhancers	NHDF-Ad	bronchial
18	chr9:94896800-94897400	Enhancers	Osteobl	bone
19	chr9:94896800-94897600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:94896800-94897600	Enhancers	HMEC	breast
21	chr9:94896800-94898200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:94896800-94899000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:94896800-94900200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:94896800-94900200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr9:94896800-94900200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:94896800-94900200	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:94896800-94900800	Weak transcription	HSMMtube	muscle
28	chr9:94896800-94902600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr9:94896800-94902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:94896800-94902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:94896800-94902800	Weak transcription	Esophagus	oesophagus
32	chr9:94896800-94902800	Weak transcription	Right Atrium	heart
33	chr9:94896800-94902800	Weak transcription	A549	lung
34	chr9:94897000-94897200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:94897000-94897200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:94897000-94897200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:94897000-94897200	Enhancers	Stomach Smooth Muscle	stomach
38	chr9:94897000-94897400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:94897000-94897400	Bivalent Enhancer	NHEK	skin
40	chr9:94897000-94897600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:94897000-94897600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:94897000-94897600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:94897000-94897600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:94897000-94898000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:94897000-94900800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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