Variant report

Variant	rs4242698
Chromosome Location	chr9:27124745-27124746
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: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10511799	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs12339737	0.87[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12552280	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs12552985	0.83[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs12555409	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13286156	0.83[EUR][1000 genomes]
rs13286157	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13286517	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13292708	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17694837	0.86[EUR][1000 genomes]
rs35243524	0.84[EUR][1000 genomes]
rs4242697	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4879912	0.85[EUR][1000 genomes]
rs71510419	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7855848	0.83[CEU][hapmap];0.90[GIH][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4242698	MOBKL2B	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27122800-27127200	Enhancers	Fetal Muscle Leg	muscle
2	chr9:27122800-27150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:27123000-27124800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:27123000-27124800	Enhancers	NHEK	skin
5	chr9:27123000-27127200	Enhancers	Fetal Stomach	stomach
6	chr9:27123200-27126000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:27123200-27127000	Enhancers	Osteobl	bone
8	chr9:27123600-27129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:27123800-27125200	Enhancers	Psoas Muscle	Psoas
10	chr9:27123800-27127400	Enhancers	Fetal Lung	lung
11	chr9:27124000-27125000	Enhancers	Placenta	Placenta
12	chr9:27124000-27125200	Enhancers	Fetal Muscle Trunk	muscle
13	chr9:27124000-27126200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr9:27124000-27126200	Enhancers	HUVEC	blood vessel
15	chr9:27124000-27126400	Enhancers	NH-A	brain
16	chr9:27124000-27127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:27124000-27127000	Enhancers	NHLF	lung
18	chr9:27124200-27125200	Enhancers	Left Ventricle	heart
19	chr9:27124200-27125200	Enhancers	Lung	lung
20	chr9:27124200-27125200	Enhancers	Spleen	Spleen
21	chr9:27124200-27125600	Enhancers	Adipose Nuclei	Adipose
22	chr9:27124200-27125800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:27124200-27126200	Enhancers	Hela-S3	cervix
24	chr9:27124200-27126400	Enhancers	HSMMtube	muscle
25	chr9:27124200-27126600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:27124200-27126600	Enhancers	HSMM	muscle
27	chr9:27124200-27126800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:27124200-27126800	Enhancers	HMEC	breast
29	chr9:27124200-27127000	Enhancers	Colon Smooth Muscle	Colon
30	chr9:27124400-27124800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:27124400-27124800	Weak transcription	Esophagus	oesophagus
32	chr9:27124400-27125000	Enhancers	Fetal Kidney	kidney
33	chr9:27124400-27125200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:27124400-27125200	Enhancers	Brain Germinal Matrix	brain
35	chr9:27124400-27125200	Enhancers	Pancreas	Pancrea
36	chr9:27124400-27125200	Enhancers	Right Atrium	heart
37	chr9:27124400-27125800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:27124400-27126800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr9:27124400-27126800	Enhancers	A549	lung
40	chr9:27124400-27127000	Enhancers	Ovary	ovary
41	chr9:27124400-27127200	Enhancers	Rectal Smooth Muscle	rectum
42	chr9:27124600-27124800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:27124600-27125600	Enhancers	Brain Hippocampus Middle	brain
44	chr9:27124600-27125600	Enhancers	NHDF-Ad	bronchial
45	chr9:27124600-27125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:27124600-27126200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:27124600-27126200	Enhancers	Stomach Mucosa	stomach
48	chr9:27124600-27126800	Enhancers	Stomach Smooth Muscle	stomach
49	chr9:27124600-27129000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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