Variant report

Variant	rs7020575
Chromosome Location	chr9:72750027-72750028
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72748535..72750686-chr9:72751248..72753868,2	MCF-7	breast:
2	chr9:72748007..72750453-chr9:72808216..72811141,2	MCF-7	breast:
3	chr9:72738878..72740762-chr9:72748344..72751164,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10114223	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10511981	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735584	0.90[EUR][1000 genomes]
rs10868800	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11142348	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs11142364	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11142372	1.00[CEU][hapmap]
rs11142377	0.81[EUR][1000 genomes]
rs11521805	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11795149	0.86[EUR][1000 genomes]
rs1180080	0.86[EUR][1000 genomes]
rs1180084	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1180089	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1180097	0.86[EUR][1000 genomes]
rs1180100	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs1180113	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1180119	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1180134	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1183311	0.86[EUR][1000 genomes]
rs17052678	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1888155	0.81[EUR][1000 genomes]
rs1927094	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1927097	0.81[EUR][1000 genomes]
rs1927108	0.90[EUR][1000 genomes]
rs1927109	0.93[EUR][1000 genomes]
rs1927112	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1927114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927123	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927138	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927140	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1927141	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927145	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927146	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1998972	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2148854	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2148855	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2148860	0.90[EUR][1000 genomes]
rs2182733	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2209781	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2225128	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309601	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2309637	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309641	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309645	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs2309646	0.81[EUR][1000 genomes]
rs2871297	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2997683	0.84[GIH][hapmap]
rs3015215	0.84[GIH][hapmap]
rs4744587	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4744980	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4744985	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66756859	0.82[EUR][1000 genomes]
rs7042675	0.83[EUR][1000 genomes]
rs72712293	0.86[EUR][1000 genomes]
rs72712300	0.81[EUR][1000 genomes]
rs7341691	0.86[EUR][1000 genomes]
rs7848955	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7857325	0.93[EUR][1000 genomes]
rs7865289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9410662	0.86[EUR][1000 genomes]
rs943532	0.81[EUR][1000 genomes]
rs943533	0.81[EUR][1000 genomes]
rs943535	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs943538	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:72738200-72750400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:72741000-72758600	Weak transcription	Colonic Mucosa	Colon
12	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
13	chr9:72741600-72751600	Weak transcription	NHLF	lung
14	chr9:72741600-72755000	Weak transcription	Left Ventricle	heart
15	chr9:72741600-72757400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
17	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
18	chr9:72743000-72754800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:72746200-72755000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:72746600-72750600	Weak transcription	HMEC	breast
21	chr9:72746600-72762600	Weak transcription	Psoas Muscle	Psoas
22	chr9:72746800-72750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:72746800-72750200	Weak transcription	NHEK	skin
24	chr9:72746800-72750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:72747400-72752600	Enhancers	HSMM	muscle
26	chr9:72747800-72753400	Enhancers	NHDF-Ad	bronchial
27	chr9:72748000-72750200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:72748000-72750400	Enhancers	Fetal Muscle Leg	muscle
29	chr9:72748000-72751400	Enhancers	Osteobl	bone
30	chr9:72748000-72752800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:72748200-72750200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:72748200-72751600	Genic enhancers	HSMMtube	muscle
33	chr9:72748200-72752000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:72748200-72752800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:72748400-72750400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:72748400-72753800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:72748600-72750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:72748600-72762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:72748800-72751600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:72749000-72750800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:72749200-72750200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:72749200-72750600	Strong transcription	Colon Smooth Muscle	Colon
43	chr9:72749400-72750200	Weak transcription	Aorta	Aorta
44	chr9:72749400-72758400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr9:72749600-72751000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:72749600-72755000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:72749800-72751200	Weak transcription	Ovary	ovary
48	chr9:72749800-72752000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr9:72749800-72762600	Weak transcription	Fetal Stomach	stomach
50	chr9:72749800-72763000	Weak transcription	Lung	lung

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