Variant report

Variant	rs4745004
Chromosome Location	chr9:72963168-72963169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72961600..72964346-chr9:73026970..73028504,2	MCF-7	breast:
2	chr9:72958849..72960599-chr9:72962750..72964507,2	MCF-7	breast:
3	chr9:72962840..72966479-chr9:72967543..72971409,5	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	0.83[ASN][1000 genomes]
rs10868775	0.88[ASN][1000 genomes]
rs10868797	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10868801	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10868805	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10868806	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11142378	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12344645	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927099	0.83[ASN][1000 genomes]
rs1927102	0.85[ASN][1000 genomes]
rs4745000	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019180	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7036205	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7036266	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7038061	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72926400-72965000	Weak transcription	Fetal Brain Male	brain
2	chr9:72926400-72967000	Weak transcription	Fetal Heart	heart
3	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
4	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:72941200-72965000	Weak transcription	Hela-S3	cervix
6	chr9:72941400-72965200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:72943000-72966400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:72943000-72966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:72943200-72968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:72943400-72963400	Weak transcription	HepG2	liver
11	chr9:72943400-72967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:72943600-72970800	Weak transcription	Gastric	stomach
13	chr9:72944000-72963200	Weak transcription	Pancreas	Pancrea
14	chr9:72944000-72963400	Weak transcription	Small Intestine	intestine
15	chr9:72944000-72963600	Weak transcription	Fetal Brain Female	brain
16	chr9:72944000-72965200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:72944000-72965200	Weak transcription	Colonic Mucosa	Colon
18	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
20	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:72944200-72963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:72944200-72963400	Weak transcription	Esophagus	oesophagus
24	chr9:72944200-72964600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:72944200-72968600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
27	chr9:72944200-72974800	Weak transcription	Lung	lung
28	chr9:72944400-72963200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:72944400-72963800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:72944400-72964000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:72944400-72965200	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:72944400-72965200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:72944400-72966000	Weak transcription	Right Ventricle	heart
34	chr9:72944600-72964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:72945000-72965000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:72945200-72963600	Weak transcription	Thymus	Thymus
37	chr9:72947400-72965400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
39	chr9:72948400-72980800	Weak transcription	NHEK	skin
40	chr9:72951600-72964600	Weak transcription	HMEC	breast
41	chr9:72951600-72966600	Weak transcription	Ovary	ovary
42	chr9:72952200-72963400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:72952200-72964400	Weak transcription	Fetal Kidney	kidney
44	chr9:72952200-72968600	Weak transcription	K562	blood
45	chr9:72952200-72972800	Weak transcription	A549	lung
46	chr9:72952400-72963800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr9:72953000-72964400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:72953200-72963200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:72953200-72965000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr9:72953400-72963200	Weak transcription	Fetal Intestine Small	intestine

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