Variant report

Variant	rs944172
Chromosome Location	chr9:110517794-110517795
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110517673..110519483-chr9:110556820..110559158,2	MCF-7	breast:
2	chr9:110517453..110520305-chr9:110540902..110543494,2	MCF-7	breast:
3	chr9:110500818..110503086-chr9:110517383..110519685,3	MCF-7	breast:
4	chr9:110250411..110253754-chr9:110517545..110522378,7	MCF-7	breast:
5	chr9:110303652..110304451-chr9:110517319..110518238,3	MCF-7	breast:
6	chr9:110517281..110517920-chr9:110567178..110567695,2	MCF-7	breast:
7	chr9:110515788..110518055-chr9:110572897..110574723,2	MCF-7	breast:
8	chr9:110246450..110254025-chr9:110510483..110522079,28	MCF-7	breast:
9	chr9:110246498..110248989-chr9:110515168..110518438,3	MCF-7	breast:
10	chr9:110517240..110518079-chr9:110567079..110567605,3	MCF-7	breast:
11	chr9:110517535..110518056-chr9:110893068..110893639,2	MCF-7	breast:
12	chr9:110241813..110245896-chr9:110516233..110519941,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244104	Chromatin interaction
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10759258	0.85[ASN][1000 genomes]
rs10979040	0.92[ASN][1000 genomes]
rs1330149	0.85[ASN][1000 genomes]
rs1411357	0.89[CHB][hapmap];0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs1467311	0.94[CHB][hapmap];0.89[CHD][hapmap];0.89[ASN][1000 genomes]
rs1831382	0.88[ASN][1000 genomes]
rs1970014	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2104759	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs2140480	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2140483	0.92[ASN][1000 genomes]
rs4979370	0.89[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]
rs6477599	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv520911	chr9:110504358-110517794	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508561	chr9:110506336-110545367	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110512400-110518000	Weak transcription	Spleen	Spleen
2	chr9:110512400-110520000	Weak transcription	Psoas Muscle	Psoas
3	chr9:110514600-110523200	Weak transcription	K562	blood
4	chr9:110514800-110522600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:110515400-110517800	Weak transcription	Stomach Mucosa	stomach
6	chr9:110515400-110523000	Weak transcription	Left Ventricle	heart
7	chr9:110516200-110518600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:110516800-110518200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:110516800-110518200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:110516800-110518200	Enhancers	HMEC	breast
11	chr9:110516800-110518400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr9:110516800-110518400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:110516800-110518400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr9:110516800-110518400	Enhancers	NHEK	skin
15	chr9:110517000-110517800	Enhancers	Small Intestine	intestine
16	chr9:110517000-110518200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:110517000-110518400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:110517000-110519600	Enhancers	Placenta	Placenta
19	chr9:110517200-110517800	Enhancers	Lung	lung
20	chr9:110517200-110517800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr9:110517200-110518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:110517200-110518000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:110517200-110518200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:110517200-110518200	Enhancers	Fetal Intestine Large	intestine
25	chr9:110517200-110518200	Enhancers	HSMM	muscle
26	chr9:110517200-110518200	Enhancers	HSMMtube	muscle
27	chr9:110517200-110518200	Enhancers	NHLF	lung
28	chr9:110517200-110518400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:110517200-110518400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:110517200-110518400	Enhancers	Duodenum Mucosa	Duodenum
31	chr9:110517200-110518400	Enhancers	Fetal Intestine Small	intestine
32	chr9:110517200-110518400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr9:110517200-110518400	Enhancers	NHDF-Ad	bronchial
34	chr9:110517400-110517800	Enhancers	Fetal Muscle Leg	muscle
35	chr9:110517400-110517800	Flanking Active TSS	HUVEC	blood vessel
36	chr9:110517400-110517800	Flanking Active TSS	Osteobl	bone
37	chr9:110517400-110518000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:110517400-110518000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:110517400-110518000	Enhancers	Adipose Nuclei	Adipose
40	chr9:110517400-110518000	Enhancers	Fetal Brain Male	brain
41	chr9:110517400-110518000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr9:110517400-110518000	Flanking Active TSS	A549	lung
43	chr9:110517400-110518200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:110517400-110518200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr9:110517400-110518200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:110517400-110518200	Enhancers	NH-A	brain
47	chr9:110517600-110518200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:110517600-110518800	Enhancers	Hela-S3	cervix

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