Variant report

Variant	rs4242697
Chromosome Location	chr9:27123922-27123923
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:27114695..27116230-chr9:27123425..27125646,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10511799	0.86[EUR][1000 genomes]
rs12339737	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12552280	0.86[EUR][1000 genomes]
rs12552985	0.83[EUR][1000 genomes]
rs12555409	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13286517	0.81[EUR][1000 genomes]
rs13292708	0.82[EUR][1000 genomes]
rs17694837	0.83[EUR][1000 genomes]
rs35243524	0.81[EUR][1000 genomes]
rs4242698	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4879912	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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
2	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv613945	chr9:27121906-27148475	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27111400-27124200	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:27112400-27124200	Weak transcription	Spleen	Spleen
3	chr9:27118600-27124000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:27118600-27124200	Weak transcription	Esophagus	oesophagus
5	chr9:27118800-27124000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:27119000-27124600	Weak transcription	NHDF-Ad	bronchial
7	chr9:27119400-27124000	Weak transcription	NHLF	lung
8	chr9:27119400-27124200	Weak transcription	HMEC	breast
9	chr9:27119600-27124200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:27119600-27124200	Weak transcription	Hela-S3	cervix
11	chr9:27119600-27124400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:27119600-27124400	Weak transcription	A549	lung
13	chr9:27119600-27124600	Weak transcription	Stomach Mucosa	stomach
14	chr9:27119800-27124000	Weak transcription	NH-A	brain
15	chr9:27120000-27124200	Weak transcription	HSMM	muscle
16	chr9:27120600-27124000	Weak transcription	HUVEC	blood vessel
17	chr9:27120600-27124200	Weak transcription	Left Ventricle	heart
18	chr9:27120600-27124400	Weak transcription	Right Atrium	heart
19	chr9:27120800-27124000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:27120800-27124200	Weak transcription	Lung	lung
21	chr9:27122800-27127200	Enhancers	Fetal Muscle Leg	muscle
22	chr9:27122800-27150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:27123000-27124800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:27123000-27124800	Enhancers	NHEK	skin
25	chr9:27123000-27127200	Enhancers	Fetal Stomach	stomach
26	chr9:27123200-27124000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:27123200-27124400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:27123200-27126000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:27123200-27127000	Enhancers	Osteobl	bone
30	chr9:27123400-27124000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:27123400-27124200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:27123400-27124200	Weak transcription	HSMMtube	muscle
33	chr9:27123600-27124600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:27123600-27129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:27123800-27124200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:27123800-27124200	Weak transcription	Adipose Nuclei	Adipose
37	chr9:27123800-27124400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:27123800-27125200	Enhancers	Psoas Muscle	Psoas
39	chr9:27123800-27127400	Enhancers	Fetal Lung	lung

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