Variant report

Variant	rs1007127
Chromosome Location	chr9:72663950-72663951
allele	C/T
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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
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	0.80[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[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2975890	0.91[ASN][1000 genomes]
rs2975907	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975908	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2975910	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975915	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975917	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2997652	0.89[ASN][1000 genomes]
rs2997664	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2997676	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2997677	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2997678	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015168	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015224	0.87[ASN][1000 genomes]
rs3015232	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3015238	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015239	0.81[AFR][1000 genomes]
rs3015242	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744968	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72659800-72664200	Weak transcription	Brain Germinal Matrix	brain
2	chr9:72660000-72664600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:72660000-72665200	Transcr. at gene 5' and 3'	HSMMtube	muscle
4	chr9:72660000-72668400	Weak transcription	HUVEC	blood vessel
5	chr9:72660200-72664000	Weak transcription	Right Ventricle	heart
6	chr9:72660200-72668200	Weak transcription	Pancreas	Pancrea
7	chr9:72660200-72668400	Weak transcription	Gastric	stomach
8	chr9:72660600-72664000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:72661000-72665000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:72661400-72664000	Weak transcription	Fetal Brain Female	brain
11	chr9:72661600-72664000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:72661600-72671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:72661600-72672000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:72661800-72664000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:72661800-72664000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:72661800-72664000	Weak transcription	Aorta	Aorta
17	chr9:72661800-72664400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:72661800-72665000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:72661800-72665400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:72661800-72665800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:72661800-72671600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:72662000-72664000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:72662000-72665000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:72662200-72664000	Enhancers	Rectal Smooth Muscle	rectum
25	chr9:72662200-72665000	Enhancers	NHEK	skin
26	chr9:72662200-72665200	Enhancers	HMEC	breast
27	chr9:72662600-72664800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:72662800-72664000	Genic enhancers	Colon Smooth Muscle	Colon
29	chr9:72662800-72664200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:72662800-72665000	Enhancers	Right Atrium	heart
31	chr9:72663000-72666400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:72663200-72664800	Enhancers	Left Ventricle	heart
33	chr9:72663200-72665000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:72663200-72665000	Enhancers	Lung	lung
35	chr9:72663200-72666400	Enhancers	Ovary	ovary
36	chr9:72663400-72664400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:72663400-72664400	Enhancers	Spleen	Spleen
38	chr9:72663400-72665000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr9:72663400-72665400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
40	chr9:72663600-72664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:72663600-72664000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:72663600-72664200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:72663600-72664200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:72663600-72664400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:72663600-72664800	Enhancers	Brain Hippocampus Middle	brain
46	chr9:72663600-72664800	Enhancers	Esophagus	oesophagus
47	chr9:72663600-72664800	Enhancers	Psoas Muscle	Psoas
48	chr9:72663600-72665000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:72663600-72665000	Bivalent Enhancer	Placenta	Placenta
50	chr9:72663600-72665000	Enhancers	NHDF-Ad	bronchial

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