Variant report

Variant	rs11142378
Chromosome Location	chr9:72972620-72972621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72972401..72973961-chr9:72976176..72979020,2	K562	blood:
2	chr9:72970286..72973007-chr9:72974824..72976368,2	MCF-7	breast:
3	chr9:72972461..72974915-chr9:72975072..72979073,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10868720	0.82[ASN][1000 genomes]
rs10868775	0.87[ASN][1000 genomes]
rs10868797	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10868801	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10868805	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10868806	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12344645	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1927099	0.83[ASN][1000 genomes]
rs1927102	0.85[ASN][1000 genomes]
rs4745000	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4745004	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7019180	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7036205	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7036266	0.87[ASN][1000 genomes]
rs7038061	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
3	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
6	chr9:72944200-72974800	Weak transcription	Lung	lung
7	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
8	chr9:72948400-72980800	Weak transcription	NHEK	skin
9	chr9:72952200-72972800	Weak transcription	A549	lung
10	chr9:72962200-72974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:72963800-72977800	Weak transcription	Esophagus	oesophagus
12	chr9:72964200-72980800	Weak transcription	Pancreas	Pancrea
13	chr9:72964400-72974000	Weak transcription	Fetal Intestine Small	intestine
14	chr9:72964800-72975200	Weak transcription	Primary B cells from cord blood	blood
15	chr9:72965000-72973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:72965400-72975000	Weak transcription	Brain Germinal Matrix	brain
17	chr9:72965600-72974600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:72965800-72974000	Weak transcription	Fetal Brain Female	brain
19	chr9:72965800-72974400	Weak transcription	Brain Substantia Nigra	brain
20	chr9:72965800-72974400	Weak transcription	GM12878-XiMat	blood
21	chr9:72965800-72974600	Weak transcription	Fetal Brain Male	brain
22	chr9:72965800-72976000	Weak transcription	Hela-S3	cervix
23	chr9:72965800-72976400	Weak transcription	Fetal Lung	lung
24	chr9:72965800-72979600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:72966400-72974600	Weak transcription	Fetal Intestine Large	intestine
26	chr9:72966400-72978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:72966600-72974400	Weak transcription	HMEC	breast
28	chr9:72966600-72983000	Weak transcription	NHDF-Ad	bronchial
29	chr9:72966800-72974600	Weak transcription	Right Ventricle	heart
30	chr9:72966800-72978200	Weak transcription	NH-A	brain
31	chr9:72967000-72974200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr9:72967000-72980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:72967200-72972800	Weak transcription	Primary T cells from cord blood	blood
34	chr9:72967200-72977800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:72967200-72979000	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:72967200-72980200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:72967400-72973600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:72967400-72973800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:72967400-72989600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:72967600-72973600	Weak transcription	HUVEC	blood vessel
41	chr9:72967600-72973800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:72967600-72974800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:72967600-72975200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:72967600-72976000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:72967600-72977200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr9:72967600-72979400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:72969000-72975200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr9:72969000-72982800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:72970800-72973400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:72971000-72973200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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