Variant report

Variant	rs4744968
Chromosome Location	chr9:72665229-72665230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72625560..72627184-chr9:72663529..72666454,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1007127	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481740	0.91[ASN][1000 genomes]
rs10481741	0.91[ASN][1000 genomes]
rs10735583	0.91[ASN][1000 genomes]
rs10780811	0.91[ASN][1000 genomes]
rs1927106	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1927115	0.85[ASN][1000 genomes]
rs2148861	0.85[ASN][1000 genomes]
rs2209779	0.89[ASN][1000 genomes]
rs2281935	0.80[ASN][1000 genomes]
rs2975862	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2975890	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2975907	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975908	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2975910	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975915	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975917	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2997652	0.89[ASN][1000 genomes]
rs2997664	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2997676	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2997677	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2997678	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015168	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015224	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3015232	0.94[ASN][1000 genomes]
rs3015238	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015242	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744977	0.91[ASN][1000 genomes]
rs4744978	0.91[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	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72660000-72668400	Weak transcription	HUVEC	blood vessel
2	chr9:72660200-72668200	Weak transcription	Pancreas	Pancrea
3	chr9:72660200-72668400	Weak transcription	Gastric	stomach
4	chr9:72661600-72671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:72661600-72672000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:72661800-72665400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:72661800-72665800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:72661800-72671600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:72663000-72666400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:72663200-72666400	Enhancers	Ovary	ovary
11	chr9:72663400-72665400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
12	chr9:72663600-72665400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:72663600-72666600	Enhancers	Adipose Nuclei	Adipose
14	chr9:72663800-72665400	Enhancers	Fetal Lung	lung
15	chr9:72664000-72667400	Enhancers	Colon Smooth Muscle	Colon
16	chr9:72664200-72666200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:72664400-72666200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:72664400-72668400	Weak transcription	Spleen	Spleen
19	chr9:72664600-72665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:72664600-72667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:72664800-72665400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:72664800-72665400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:72664800-72665600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:72664800-72666200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:72664800-72667000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:72664800-72667000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:72664800-72667200	Weak transcription	Liver	Liver
28	chr9:72664800-72667400	Weak transcription	Psoas Muscle	Psoas
29	chr9:72664800-72668400	Weak transcription	Esophagus	oesophagus
30	chr9:72664800-72668600	Weak transcription	Brain Germinal Matrix	brain
31	chr9:72664800-72668600	Weak transcription	NH-A	brain
32	chr9:72664800-72670400	Weak transcription	Left Ventricle	heart
33	chr9:72664800-72670400	Weak transcription	Right Ventricle	heart
34	chr9:72665000-72665800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:72665000-72665800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr9:72665000-72666000	Weak transcription	Right Atrium	heart
37	chr9:72665000-72667000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:72665000-72667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:72665000-72667000	Weak transcription	Aorta	Aorta
40	chr9:72665000-72667200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:72665000-72667600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:72665000-72667800	Weak transcription	NHEK	skin
43	chr9:72665000-72668000	Enhancers	Rectal Smooth Muscle	rectum
44	chr9:72665000-72668400	Weak transcription	NHDF-Ad	bronchial
45	chr9:72665000-72669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:72665000-72670200	Weak transcription	Lung	lung
47	chr9:72665200-72665800	Weak transcription	HMEC	breast
48	chr9:72665200-72666200	Strong transcription	HSMM	muscle
49	chr9:72665200-72666400	Genic enhancers	HSMMtube	muscle
50	chr9:72665200-72667200	Weak transcription	Muscle Satellite Cultured Cells	--

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