Variant report

Variant	rs60187216
Chromosome Location	chr9:116393993-116393994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116392305..116395161-chr9:116397306..116400059,2	MCF-7	breast:
2	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
3	chr9:116379738..116382118-chr9:116392822..116396167,3	MCF-7	breast:
4	chr9:116387727..116389592-chr9:116393862..116395666,2	K562	blood:
5	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
6	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233817	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12683088	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv466511	chr9:116374990-116397397	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615219	chr9:116374990-116397397	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv893749	chr9:116378759-116439749	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116384200-116396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:116385000-116396400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:116385800-116394200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:116385800-116402600	Weak transcription	Stomach Mucosa	stomach
5	chr9:116386000-116395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:116387200-116395000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:116387400-116394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:116387600-116396200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:116387800-116396800	Weak transcription	Right Ventricle	heart
10	chr9:116388200-116394000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:116389600-116396400	Weak transcription	Left Ventricle	heart
12	chr9:116389800-116394800	Weak transcription	HUVEC	blood vessel
13	chr9:116389800-116395400	Weak transcription	Psoas Muscle	Psoas
14	chr9:116389800-116402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:116390200-116394400	Weak transcription	Fetal Heart	heart
16	chr9:116390400-116394000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:116392600-116399000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:116392800-116394800	Enhancers	Fetal Lung	lung
19	chr9:116393000-116395600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:116393000-116396600	Enhancers	NHDF-Ad	bronchial
21	chr9:116393400-116394200	Bivalent Enhancer	Placenta	Placenta
22	chr9:116393400-116394800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:116393400-116395200	Enhancers	Adipose Nuclei	Adipose
24	chr9:116393400-116397400	Enhancers	NHLF	lung
25	chr9:116393400-116399400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:116393600-116394400	Enhancers	Colon Smooth Muscle	Colon
27	chr9:116393600-116395000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:116393600-116395000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:116393600-116395000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr9:116393600-116395400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:116393600-116395800	Enhancers	HSMMtube	muscle
32	chr9:116393600-116396600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr9:116393600-116398400	Enhancers	Osteobl	bone
34	chr9:116393600-116399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:116393800-116394000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:116393800-116394000	Enhancers	Spleen	Spleen
37	chr9:116393800-116394400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr9:116393800-116395000	Enhancers	HSMM	muscle
39	chr9:116393800-116395200	Enhancers	Right Atrium	heart
40	chr9:116393800-116398800	Enhancers	Fetal Stomach	stomach

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